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
PDZRN3	23024	broad.mit.edu	37	3	73433842	73433842	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:73433842G>A	uc003dpl.1	-	9	1971	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	PDZRN3_uc011bgh.1_Silent_p.F282F|PDZRN3_uc010hoe.1_Silent_p.F323F|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Silent_p.F342F|PDZRN3_uc011bgg.1_Silent_p.F345F	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	625							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGCCGAAATGAAAGACTCGT	0.662000														87			5		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4645307	4645307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4645307C>T	uc002fyu.2	+	2	955	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.R309C|ZMYND15_uc002fyt.2_Missense_Mutation_p.R309C	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	309							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGCTTCCCTTCGTGCTCGAAC	0.577000														83			4		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132258	57132258	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57132258G>A	uc003dil.3	-	11	1562	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	IL17RD_uc003dik.3_Silent_p.I467I|IL17RD_uc010hna.3_Silent_p.I347I|IL17RD_uc011bex.1_Silent_p.I347I	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	491	SEFIR.					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)		TCAGGTCTAGGATACCGGGGA	0.582000														26			4		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778717	110778717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:110778717C>T	uc001tqk.4	+	13	2578	c.2015C>T	c.(2014-2016)gCc>gTc	p.A672V	ATP2A2_uc001tql.4_Missense_Mutation_p.A672V|ATP2A2_uc021rdt.1_Missense_Mutation_p.A520V	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	672					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						TGCCTGAACGCCCGCTGTTTT	0.507000														31			4		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42424830	42424830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:42424830C>T	uc003gwr.2	-	34	3531	c.3299G>A	c.(3298-3300)gGa>gAa	p.G1100E	ATP8A1_uc003gwq.2_Missense_Mutation_p.G326E|ATP8A1_uc003gws.2_Missense_Mutation_p.G1085E	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1100					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)	TTACCTTTTTCCAAGTACAAC	0.343000														101			20		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44079696	44079696	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44079696G>A	uc003bdy.2	-	11	1496	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	EFCAB6_uc003bdz.2_Silent_p.I242I|EFCAB6_uc010gzi.2_Silent_p.I242I|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.I391I	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.I393S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATAACTTTGTGATGATGTTTT	0.348000														88			6		0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533450	29533450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29533450C>T	uc011akm.1	+	5	805	c.752C>T	c.(751-753)gCc>gTc	p.A251V	KREMEN1_uc003ael.3_Missense_Mutation_p.A251V|KREMEN1_uc011akn.2_Missense_Mutation_p.A134V	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	249	CUB.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GTTCCGGGGGCCTCCCACATC	0.602000														76			9		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31690883	31690883	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31690883G>A	uc011kae.2	+	12	2801	c.2789_splice	c.e12+1	p.R930_splice	CCDC129_uc011kad.1_Splice_Site_p.R914_splice|CCDC129_uc003tcj.1_Splice_Site_p.R904_splice|CCDC129_uc003tci.1_Splice_Site_p.R755_splice|CCDC129_uc003tck.1_Splice_Site_p.R812_splice	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	904										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAGGAGGAAAGGTAATTACCT	0.483000														18			3		0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31829215	31829215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31829215G>A	uc003nxq.4	-	2	521	c.365C>T	c.(364-366)tCt>tTt	p.S122F		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	122						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CGCTGTAGGAGACCATGTGCT	0.488000														209			18		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026704	182026704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182026704C>T	uc001goz.3	-	1	650	c.442G>A	c.(442-444)Ggt>Agt	p.G148S	ZNF648_uc021pfu.1_Missense_Mutation_p.G148S	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A147A(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCATCATCACCCGCAGGTAGT	0.562000														60			11		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272223	44272223	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44272223G>A	uc010jza.1	-	12	1803	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	600					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)		L-Alanine(DB00160)	CCTCATGCAGGATGAAACCTC	0.602000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			7		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151788957	151788957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151788957G>A	uc010ipj.3	-	21	2876	c.2632C>T	c.(2632-2634)Cct>Tct	p.P878S	LRBA_uc003ilu.4_Missense_Mutation_p.P878S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	878						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAATTCTTAGGATTAAAATAG	0.388000														44			4		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861114	111861114	+	Splice_Site	SNP	G	A	A	rs144676218		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111861114G>A	uc001eas.3	+	9	887	c.730_splice	c.e9-1	p.D244_splice	CHIA_uc001ear.3_Splice_Site_p.D136_splice|CHIA_uc001eaq.3_Splice_Site_p.D136_splice|CHIA_uc009wgc.3_Splice_Site_p.D136_splice|CHIA_uc001eat.3_Splice_Site_p.D83_splice|CHIA_uc001eav.3_Splice_Site_p.D83_splice|CHIA_uc001eau.3_Splice_Site_p.D83_splice|CHIA_uc009wgd.3_Splice_Site_p.D83_splice	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	244					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			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)		TGACATTGCAGGATTATGTCA	0.463000														55			5		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125514272	125514272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125514272G>A	uc001lhk.1	-	12	2249	c.1924C>T	c.(1924-1926)Cgt>Tgt	p.R642C	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	642					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTAATGCCACGATGAACCTGC	0.517000														93			9		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207648364	207648364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207648364G>A	uc001hfw.3	+	12	2461	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	CR2_uc001hfv.3_Missense_Mutation_p.R840Q|CR2_uc009xch.3_Missense_Mutation_p.R781Q	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	781	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGTGCTTACGATCTCCTCCT	0.453000														11			5		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119445065	119445065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119445065G>A	uc003ede.4	+	6	807	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	C3orf15_uc010hqy.2_Missense_Mutation_p.A244T|C3orf15_uc010hqz.3_Missense_Mutation_p.A182T|C3orf15_uc011bjd.2_Missense_Mutation_p.A118T|C3orf15_uc011bje.2_Missense_Mutation_p.A224T|C3orf15_uc010hra.2_Missense_Mutation_p.A5T	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	244						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GATAGAAAGAGCCCGCGAGAA	0.547000														9			3		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954770	30954770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30954770C>T	uc003nsh.2	+	1	1069	c.818C>T	c.(817-819)tCt>tTt	p.S273F	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S257F	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	273	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.617000														143			19		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836173	47836173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:47836173C>T	uc002zji.4	+	29	6448	c.6341C>T	c.(6340-6342)tCc>tTc	p.S2114F	PCNT_uc002zjj.3_Missense_Mutation_p.S1996F	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2114					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTGATGATTCCTGTGACGGA	0.507000														39			4		0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768670	24768670	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24768670C>T	uc001bjh.3	+	3	695	c.288C>T	c.(286-288)ttC>ttT	p.F96F	NIPAL3_uc010oek.2_Silent_p.F96F|NIPAL3_uc009vrc.3_Silent_p.F14F	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	96						integral to membrane		p.A95A(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTACGCCTTCGCGCCGCTGT	0.632000														105			25		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4741596	4741596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:4741596C>T	uc003bqc.3	+	33	4812	c.4462C>T	c.(4462-4464)Ccc>Tcc	p.P1488S	ITPR1_uc021wsi.1_Missense_Mutation_p.P1494S|ITPR1_uc021wsj.1_Missense_Mutation_p.P1479S|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.	1503					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)		CTTCAGCTCTCCCTTCTCAGA	0.438000														37			6		0	0	1	0	0
HNRNPC	3183	broad.mit.edu	37	14	21681206	21681206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21681206G>A	uc001vzy.3	-	5	719	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	HNRNPC_uc001vzw.3_Nonsense_Mutation_p.Q146*|HNRNPC_uc001wad.3_Nonsense_Mutation_p.Q79*|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Nonsense_Mutation_p.Q146*|HNRNPC_uc001waa.3_Nonsense_Mutation_p.Q159*|HNRNPC_uc010ail.3_Nonsense_Mutation_p.Q159*|HNRNPC_uc010tlq.2_Intron|HNRNPC_uc001wac.3_Intron|HNRNPC_uc010tlr.2_Nonsense_Mutation_p.Q24*|HNRNPC_uc001wae.3_Nonsense_Mutation_p.Q146*	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	159						catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GATACACGCTGACGTTTCGAG	0.463000														29			4		0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89503276	89503276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:89503276G>A	uc001kex.3	+	9	1617	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	PAPSS2_uc001kew.3_Missense_Mutation_p.D457N	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	452					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAAGGATGACGATGTGCCTCT	0.602000														36			4		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42485724	42485724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42485724G>A	uc002osh.3	-	10	1521	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	ATP1A3_uc010xwf.2_Missense_Mutation_p.S467F|ATP1A3_uc010xwg.2_Missense_Mutation_p.S426F|ATP1A3_uc002osg.3_Missense_Mutation_p.S456F|ATP1A3_uc010xwh.2_Missense_Mutation_p.S469F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	456					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						CAGCTTCACGGAGCCAGAGGA	0.552000														44			9		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64875094	64875095	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64875094_64875095GG>AA	uc010wqi.2	+	2	438_439	c.201_202GG>AA	c.(199-204)gaggag>gaAAag	p.E68K	CACNG5_uc010wqj.2_Missense_Mutation_p.E68K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCACAGGTGAGGAGCGGGGGCG	0.465000														83			8		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701193	81701193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:81701193G>A	uc001kbh.3	-	5	671	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	210	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTGTCTCCAGGAATGCCTTTG	0.617000														66			4		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3543884	3543884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3543884C>T	uc002wim.2	+	9	1750	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	ATRN_uc002wil.2_Missense_Mutation_p.R554C|ATRN_uc021vzz.1_Missense_Mutation_p.R438C	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	554					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGATTTTTCCGTTACTTGCA	0.378000														44			10		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647226	54647226	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54647226C>T	uc002qdj.2	+	3	466	c.142C>T	c.(142-144)Cta>Tta	p.L48L	CNOT3_uc010yel.2_Silent_p.L48L|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Silent_p.L48L|CNOT3_uc010ere.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	48					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGCTGACCTAAAGAAGGA	0.547000														58			12		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293292	27293292	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27293292C>T	uc010jqt.3	+	0	753	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		TTCACAGTATCAGTCTGTCTC	0.398000														131			17		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39688533	39688533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39688533G>A	uc003oot.2	-	1	216	c.121C>T	c.(121-123)Cca>Tca	p.P41S	KIF6_uc011dua.1_Missense_Mutation_p.P41S|KIF6_uc010jxb.1_Missense_Mutation_p.P41S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	41	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAATCACGTGGTAAGATGATT	0.299000														51			4		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155561736	155561736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155561736G>A	uc003qqb.3	+	17	4514	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	TIAM2_uc003qqe.3_Missense_Mutation_p.E1081K|TIAM2_uc010kjj.3_Missense_Mutation_p.E614K|TIAM2_uc003qqf.3_Missense_Mutation_p.E457K|TIAM2_uc011efl.1_Missense_Mutation_p.E417K|TIAM2_uc003qqg.3_Missense_Mutation_p.E393K|TIAM2_uc003qqh.3_Missense_Mutation_p.E6K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1081					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGACCGCGGGAGAATCAGGA	0.557000														57			6		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792596	143792596	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143792596C>T	uc011kty.2	+	0	396	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGCAATACACCCTCATTATGA	0.438000														71			7		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88722522	88722522	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:88722522G>A	uc002flg.1	-	4	601	c.594C>T	c.(592-594)ctC>ctT	p.L198L	MVD_uc002flf.1_Silent_p.L67L	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	198					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACAAGGATGAGCACGCGGA	0.677000														36			5		0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1466554	1466554	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1466554G>A	uc001ltm.3	+	9	1234	c.981G>A	c.(979-981)caG>caA	p.Q327Q	BRSK2_uc009ycv.1_Silent_p.Q281Q|BRSK2_uc001lth.1_Silent_p.Q281Q|BRSK2_uc001lti.3_Silent_p.Q281Q|BRSK2_uc001ltl.3_Silent_p.Q281Q|BRSK2_uc001ltj.3_Silent_p.Q281Q|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	281	UBA.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AACCAGAGCAGCCCATTCCTC	0.682000														27			7		0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009145	5009145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5009145G>A	uc002gat.3	-	4	1964	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	ZNF232_uc002gar.1_Missense_Mutation_p.H428Y	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	410					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTTCTGGCATGAACTCTCCGA	0.428000														125			9		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046156	201046156	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201046156G>A	uc001gvv.3	-	11	1946	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	573					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)	CCAGGAGGGCGAAGATGACGA	0.567000														64			4		0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70497632	70497632	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70497632C>T	uc010cft.3	+	2	247	c.189C>T	c.(187-189)gcC>gcT	p.A63A	FUK_uc010vmb.1_Silent_p.A63A|FUK_uc002eyy.3_Silent_p.A63A|FUK_uc002eyz.3_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	63						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCCTCAACGCCCTGCTGGTGG	0.652000														21			7		0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206785	130206785	+	Missense_Mutation	SNP	G	A	A	rs148604589	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130206785G>A	uc004bqw.4	+	4	1220	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	ZNF79_uc011maf.2_Missense_Mutation_p.R245Q|ZNF79_uc011mag.2_Missense_Mutation_p.R245Q	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AAACACCAGCGAACCCACACC	0.522000														63			8		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486454	133486454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133486454C>T	uc002ttp.3	-	17	5889	c.5515G>A	c.(5515-5517)Gaa>Aaa	p.E1839K	NCKAP5_uc002ttq.3_Missense_Mutation_p.E520K	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1839							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						ATTGGGTCTTCAGCATATCCG	0.547000														114			9		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328275	243328275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:243328275G>A	uc021plo.1	-	12	3395	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	CEP170_uc021plp.1_Missense_Mutation_p.S898F|CEP170_uc021plq.1_Missense_Mutation_p.S898F|CEP170_uc001hzv.1_Missense_Mutation_p.S374F	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	996	Targeting to microtubules.					centriole|microtubule|spindle		p.R995C(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACATCTGTGGAACGACTTTT	0.403000														48			4		0	0	1	0	0
C2orf66	401027	broad.mit.edu	37	2	197672262	197672262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197672262G>A	uc002utv.3	-	1	1148	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	Homo sapiens chromosome 2 open reading frame 66 (C2orf66), mRNA.	87						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						AGAGGTCTAGGATTTTCATTC	0.393000														96			6		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65237848	65237848	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65237848C>T	uc001xht.3	-	26	5605	c.5554_splice	c.e26-1	p.V1852_splice	SPTB_uc001xhr.3_Splice_Site_p.V1852_splice|SPTB_uc001xhs.3_Splice_Site_p.V1852_splice|SPTB_uc001xhu.3_Splice_Site_p.V1852_splice|SPTB_uc010aqi.3_Splice_Site_p.V513_splice	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1852					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTGCACCTGTGGTCAGG	0.607000														104			11		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6512052	6512052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6512052C>T	uc001amy.3	+	9	2389	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	ESPN_uc001amz.3_Missense_Mutation_p.P175S	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	741					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTCATCCCCACGCACGA	0.662000														17			3		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54952870	54952870	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:54952870C>T	uc004dtq.3	+	7	1712	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	TRO_uc004dts.3_Silent_p.L535L|TRO_uc004dtr.3_Silent_p.L535L|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.L138L|TRO_uc011mok.2_Silent_p.L66L|TRO_uc004dtw.3_Silent_p.L138L|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	535	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCTGGGTCTCCTCATGGTGA	0.493000														10			4		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093438	143093438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:143093438G>A	uc003qjd.3	-	4	3181	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	813					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)		CCTTTCAAATGAATTGGGTCG	0.498000														52			7		0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99279639	99279639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:99279639G>A	uc002sze.3	-	4	721	c.407C>T	c.(406-408)tCa>tTa	p.S136L	MGAT4A_uc010yvm.2_Missense_Mutation_p.S8L|MGAT4A_uc010fil.3_5'UTR|MGAT4A_uc010fim.1_Missense_Mutation_p.S8L	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	136					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CATGACTATTGAAACTGGaaa	0.313000														89			5		0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40717139	40717139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:40717139G>A	uc002yxo.3	-	4	392	c.188C>T	c.(187-189)gCc>gTc	p.A63V	HMGN1_uc021wjh.1_Non-coding_Transcript	NM_004965	NP_004956	P05114	HMGN1_HUMAN	Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA.	63					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				AGCCACTTCGGCCTGTTTTCC	0.403000														16			3		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860808	860808	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:860808G>A	uc003gbm.4	-	20	3007	c.2808C>T	c.(2806-2808)ctC>ctT	p.L936L	GAK_uc003gbn.4_Silent_p.L857L|GAK_uc010ibk.1_Silent_p.L830L|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.L800L	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	936					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGCTTGCCAGGAGCAGCGGGT	0.697000														53			6		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088167	86088168	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:86088167_86088168CC>TT	uc021rxf.1	+	0	309_310	c.309_310CC>TT	c.(307-312)ttcccc>ttTTcc	p.P104S	FLRT2_uc001xvr.3_Missense_Mutation_p.P104S|FLRT2_uc010atd.3_Missense_Mutation_p.P104S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	104					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.P104S(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGACGAATTCCCCATGAACCT	0.460000														67			9		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55350983	55350983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55350983G>A	uc002qhm.1	+	4	515	c.469G>A	c.(469-471)Gag>Aag	p.E157K	KIR3DL2_uc010yfj.2_Silent_p.G150G|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.G157G|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	260	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGAAGGGGAGGCCCATGA	0.597000														153			6		0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558820	9558820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9558820G>A	uc002qzj.3	-	1	184	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Missense_Mutation_p.R3C|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Intron|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.R3C	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	3					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTGCCCTTGCGAAACATTTTT	0.373000														151			27		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94396969	94396969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:94396969C>T	uc001kic.3	+	14	2212	c.1904C>T	c.(1903-1905)tCa>tTa	p.S635L		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	635					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCTAAGTTCACTGGAAATG	0.323000														277			39		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42204950	42204950	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:42204950C>T	uc002xkv.3	+	9	1179	c.960C>T	c.(958-960)gcC>gcT	p.A320A	SGK2_uc002xkr.3_Silent_p.A260A|SGK2_uc010ggm.3_Silent_p.A260A|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.A260A	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	320	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGACAGTGGCCGCCTGTGACC	0.607000														72			5		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153665653	153665653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153665653C>T	uc001fcs.4	+	20	3524	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	NPR1_uc010pdz.2_Nonsense_Mutation_p.R781*|NPR1_uc010pea.2_Nonsense_Mutation_p.R513*	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	1035					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTGGAGCTTCGAGGGGATGT	0.562000														66			14		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896664	31896664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31896664G>A	uc003nyf.3	+	2	676	c.412G>A	c.(412-414)Gat>Aat	p.D138N	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.D138N|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.D109N|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	152	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGGCATGTGGGATGGAGAAAC	0.607000														239			32		0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80445839	80445839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80445839G>A	uc010dit.3	+	12	1452	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N	NARF_uc002kff.4_Missense_Mutation_p.D334N|NARF_uc002kfg.4_Missense_Mutation_p.D393N|NARF_uc002kfj.4_Missense_Mutation_p.D345N	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	393						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGGACATGCGGATAAGGCCCT	0.562000														66			19		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769359	88769359	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88769359C>T	uc001kee.2	+	11	2554	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	450					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGAGCTGTCCCTGGGCCAGC	0.592000														140			13		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81536943	81536943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81536943G>A	uc001szl.1	+	4	929	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	ACSS3_uc001szm.1_Missense_Mutation_p.A279T	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	280						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GATGGCAAAAGCCCAGTCACA	0.443000														28			4		0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109540670	109540670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109540670C>T	uc001tnz.2	+	4	646	c.560C>T	c.(559-561)tCt>tTt	p.S187F	UNG_uc001toa.2_Missense_Mutation_p.S178F	NM_080911	NP_550433	P13051	UNG_HUMAN	Homo sapiens uracil-DNA glycosylase (UNG), transcript variant 2, mRNA.	187					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	p.H186Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAAGAGTTGTCTACAGACATA	0.363000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM					59			5		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054611	67054611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:67054611C>T	uc003dmy.3	+	2	1273	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	407										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGAGAAACTCACTAAAATCT	0.438000														59			6		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49059569	49059569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:49059569G>A	uc001zwz.3	-	15	2303	c.2110C>T	c.(2110-2112)Ctc>Ttc	p.L704F	CEP152_uc001zwy.3_Missense_Mutation_p.L704F|CEP152_uc001zxa.2_Missense_Mutation_p.L611F	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	704					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCTCAAAGAGCTGCTGCTTC	0.413000														28			5		0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127683504	127683504	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127683504A>T	uc004bpc.3	-	9	1089	c.747T>A	c.(745-747)gcT>gcA	p.A249A	GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Silent_p.A224A	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	249						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CTGTTTTTGAAGCTATCACAT	0.373000														85			5		0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287742	79287742	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79287742G>A	uc002kad.2	-	2	649	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	33						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			ACCAGGTAAGGAGATAAATCA	0.587000														76			23		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13338323	13338323	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13338323C>T	uc002mwy.3	-	36	5783	c.5547G>A	c.(5545-5547)ctG>ctA	p.L1849L	CACNA1A_uc002mwx.3_Silent_p.L555L|CACNA1A_uc010dzc.2_Intron|CACNA1A_uc010xnd.2_Silent_p.L1852L|CACNA1A_uc021ups.1_Silent_p.L1849L|CACNA1A_uc010xne.2_Silent_p.L1852L|CACNA1A_uc010dze.2_Intron|CACNA1A_uc021upt.1_Intron|CACNA1A_uc002mwv.3_Intron	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1850					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GATACATGTCCAGGTAAGGCA	0.498000														79			8		0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082516	62082516	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62082516G>A	uc002jdu.4	-	1	511	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ICAM2_uc002jdw.4_Silent_p.F93F|ICAM2_uc010ded.3_Silent_p.F93F|ICAM2_uc002jdx.4_Silent_p.F93F|ICAM2_uc002jdv.4_Silent_p.F93F|ICAM2_uc010wpx.1_Silent_p.F93F	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	93	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGGAGCAGGTGAAGTGGCATT	0.552000														49			5		0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101114268	101114268	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:101114268G>A	uc002bwg.3	-	4	1033	c.810C>T	c.(808-810)ttC>ttT	p.F270F	LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_Silent_p.F151F|LINS_uc002bwi.3_Silent_p.F270F	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	270										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTGGCAAGTGAAATGTAACT	0.393000														24			6		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3846791	3846791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3846791C>T	uc002fwy.2	-	10	1486	c.1313G>A	c.(1312-1314)gGa>gAa	p.G438E	ATP2A3_uc002fwz.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxa.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxb.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxc.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxd.2_Missense_Mutation_p.G438E|ATP2A3_uc002fwx.2_Missense_Mutation_p.G438E	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	438					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGTGGCCTCTCCCACCTTCTC	0.637000														112			8		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152529286	152529286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152529286G>A	uc021zhb.1	-	122	22868	c.22645C>T	c.(22645-22647)Cgc>Tgc	p.R7549C	SYNE1_uc003qos.4_Missense_Mutation_p.R2073C|SYNE1_uc003qot.4_Missense_Mutation_p.R7478C|SYNE1_uc003qou.4_Missense_Mutation_p.R7549C|SYNE1_uc003qor.4_Missense_Mutation_p.R449C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7549					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGGCCCTGCGAATCACTCCC	0.468000										HNSCC(10;0.0054)				41			4		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9484673	9484673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9484673C>T	uc002qzh.2	+	9	1202	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ASAP2_uc002qzi.2_Missense_Mutation_p.R288C	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	288					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTCCCAAATTCGTCAGAGCAC	0.443000														47			4		0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61018652	61018652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61018652G>A	uc001nqz.3	+	8	1121	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	356					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CGTCCCCACCGAATCTGGAGA	0.557000														175			15		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629498	129629498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129629498G>A	uc010nrh.3	+	0	584	c.366G>A	c.(364-366)atG>atA	p.M122I	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	122										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CAGTTAAAATGATGGAGAGTT	0.443000														62			9		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379844	145379844	+	Missense_Mutation	SNP	G	A	A	rs35453884	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:145379844G>A	uc003lnt.3	+	2	840	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SH3RF2_uc011dbl.1_Missense_Mutation_p.R201Q	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	201	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R201*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGACCTACGAGGCAAGGAC	0.592000														23			5		0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46723068	46723068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46723068C>T	uc001nde.2	+	1	453	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	ARHGAP1_uc001ndd.3_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.2_Missense_Mutation_p.P50S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAGAGCCTTCCCCGGGGCTT	0.667000														77			7		0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57651864	57651864	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57651864G>A	uc009zpm.1	-	18	2351	c.2316C>T	c.(2314-2316)ccC>ccT	p.P772P	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.P467P|R3HDM2_uc001snr.2_Silent_p.P499P|R3HDM2_uc001sns.2_Silent_p.P772P|R3HDM2_uc001snt.2_Silent_p.P786P	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	772						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGACAGGAGAGGGTGCTGGAG	0.577000														20			4		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139793202	139793202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139793202G>A	uc003yvd.3	-	12	2065	c.1618C>T	c.(1618-1620)Ccc>Tcc	p.P540S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	540	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCCCAGGGGGGCCGGGCAGG	0.532000										HNSCC(7;0.00092)				113			9		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8995744	8995744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8995744G>A	uc001quz.4	+	11	1361	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	A2ML1_uc001qva.1_Missense_Mutation_p.M1I|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	265						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTTCAAATGGAAGACTTAG	0.453000														68			5		0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370400	50370400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50370400G>A	uc002pqj.3	-	1	172	c.62C>T	c.(61-63)cCc>cTc	p.P21L	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Missense_Mutation_p.P21L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	21					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CAGGAAGATGGGGGGCGCTCC	0.711000								Other BER factors						41			11		0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71630223	71630223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71630223C>T	uc003hfr.3	+	3	1097	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RUFY3_uc003hfp.4_Missense_Mutation_p.R228C|RUFY3_uc003hfq.3_Missense_Mutation_p.R168C|RUFY3_uc011cax.2_Missense_Mutation_p.R186C|RUFY3_uc011cay.2_Missense_Mutation_p.R104C	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	168	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGCCTGGCTTCGTTTGGCATT	0.368000														74			6		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461798	5461798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5461798C>T	uc002gci.3	-	3	2773	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	NLRP1_uc002gcg.1_Missense_Mutation_p.E740K|NLRP1_uc002gch.4_Missense_Mutation_p.E740K|NLRP1_uc002gck.3_Missense_Mutation_p.E740K|NLRP1_uc002gcj.3_Missense_Mutation_p.E740K|NLRP1_uc002gcl.3_Missense_Mutation_p.E740K|NLRP1_uc010clh.3_Missense_Mutation_p.E740K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	740					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.E739K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATGCCCATTTCTTCGAAATGG	0.512000														85			9		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37514927	37514927	+	Silent	SNP	G	A	A	rs5848002		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37514927G>A	uc003chd.3	+	2	449	c.396G>A	c.(394-396)caG>caA	p.Q132Q	ITGA9_uc003chc.3_Silent_p.Q132Q	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	132					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGCCCGACAGCCCAAGGCTG	0.602000														37			5		0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335726	140335726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140335726C>T	uc004fbk.3	-	1	274	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	73						cytoplasm|nucleus		p.R73R(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCTGTTCTCTCGGGCGTGGTC	0.443000														71			4		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779583	142779583	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:142779583G>A	uc003lnd.3	-	1	1816	c.822C>T	c.(820-822)ccC>ccT	p.P274P	NR3C1_uc003lmy.3_Silent_p.P274P|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Silent_p.P274P|NR3C1_uc003lnb.3_Silent_p.P274P|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Silent_p.P274P|NR3C1_uc003lne.3_Silent_p.P274P|NR3C1_uc003lnc.3_Silent_p.P274P|NR3C1_uc021yfa.1_Silent_p.P274P|NR3C1_uc021yfb.1_Silent_p.P274P|NR3C1_uc003lng.2_Silent_p.P274P|NR3C1_uc003lni.2_Silent_p.P274P	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	274	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTTTCACTTGGGGCAGTGTTA	0.443000														79			15		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276445	63276445	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63276445C>T	uc001nxc.2	+	2	764	c.423C>T	c.(421-423)ttC>ttT	p.F141F	LGALS12_uc001nxa.2_Silent_p.F140F|LGALS12_uc001nxb.2_Silent_p.F140F|LGALS12_uc001nxd.2_Silent_p.F79F|LGALS12_uc001nxe.2_Silent_p.F79F|LGALS12_uc009yot.2_Silent_p.F100F	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	140	Galectin 1.				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						TCTTTCTCTTCGGGAATGAGG	0.597000														25			8		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757680	17757680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17757680G>A	uc009yhc.1	+	0	186	c.131G>A	c.(130-132)aGc>aAc	p.S44N	KCNC1_uc001mnk.4_Missense_Mutation_p.S44N	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	44						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.H43P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GACGCCCACAGCCACTTCGAC	0.687000														28			4		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568713	61568713	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61568713C>T	uc002jau.2	+	18	2917	c.2883C>T	c.(2881-2883)gcC>gcT	p.A961A	ACE_uc010wpj.2_Silent_p.A387A|ACE_uc010ddv.2_Silent_p.A188A|ACE_uc002jav.2_Silent_p.A387A|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.A207A	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	961	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)	ACGCCTCGGCCTGGGACTTCT	0.622000														86			10		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779044	36779044	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779044G>A	uc003cgi.2	-	1	1598	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	369	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.V369V(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACTCCTTCACGACAGCAAAGT	0.572000														36			4		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957790	74957790	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:74957790C>A	uc001dge.2	+	24	2561	c.2494C>A	c.(2494-2496)Cct>Act	p.P832T	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P731T	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	731						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GCTGATGTCTCCTGCATCAAG	0.453000														66			14		4.7546e-09	4.81843e-09	1	1	0
OR1S1	219959	broad.mit.edu	37	11	57982297	57982297	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57982297C>T	uc010rkc.2	+	0	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AATTCATTCTCCTGGGATTTT	0.418000														26			4		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122176207	122176207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:122176207G>A	uc002tnc.3	-	22	2701	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	CLASP1_uc002tmz.3_5'UTR|CLASP1_uc002tna.3_Intron|CLASP1_uc010yyw.2_Intron|CLASP1_uc002tnb.3_Intron|CLASP1_uc010yyx.2_Intron|CLASP1_uc010yyy.2_Intron|CLASP1_uc010yyz.2_Intron|CLASP1_uc010yza.2_Intron|CLASP1_uc021vnl.1_Intron|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Intron	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	771	Interaction with microtubules, MAPRE1 and MAPRE3.				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)					CCAAGTGGAGGAAAGCCCCGA	0.597000														62			9		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77708372	77708372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:77708372C>T	uc003ugx.3	-	20	3852	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K	MAGI2_uc003ugy.3_Missense_Mutation_p.E1186K|MAGI2_uc010ldx.1_Missense_Mutation_p.E793K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1200	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTTGTGCTTTCCCCATTGATT	0.428000														107			8		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103997	53103997	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:53103997G>A	uc003tpz.3	+	0	649	c.633G>A	c.(631-633)caG>caA	p.Q211Q		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	211										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGAACCTGCAGCCCCGGCCCT	0.672000														76			16		0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28605449	28605449	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:28605449C>T	uc001riq.3	+	9	977	c.963C>T	c.(961-963)gtC>gtT	p.V321V	CCDC91_uc001rio.3_Silent_p.V291V|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Silent_p.V321V|CCDC91_uc009zjl.3_Silent_p.V123V	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	321	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTTTAAAAGTCGTAGAAGAAG	0.313000														24			7		0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7026767	7026767	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7026767C>T	uc001qru.1	+	5	555	c.333C>T	c.(331-333)atC>atT	p.I111I	ENO2_uc009zfi.1_Silent_p.I111I|ENO2_uc010sfq.1_Silent_p.I68I|ENO2_uc001qrv.1_Silent_p.I111I	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	111					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCAATGCCATCCTGGGTGTGT	0.572000														94			19		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908473	2908473	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:2908473C>A	uc003bpc.3	+	7	831	c.492C>A	c.(490-492)tcC>tcA	p.S164S	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.S164S|CNTN4_uc003bpd.1_Silent_p.S164S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	164	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATACCCTTCCTATCAGGATA	0.378000														28			7		2.17888e-05	2.20395e-05	1	1	0
SIX2	10736	broad.mit.edu	37	2	45233511	45233511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:45233511G>A	uc002ruo.3	-	1	967	c.674C>T	c.(673-675)tCa>tTa	p.S225L		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	225						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGGATGATGAGTGGTCTGG	0.667000														120			16		0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118783993	118783993	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:118783993G>A	uc004erv.3	-	4	862	c.597C>T	c.(595-597)atC>atT	p.I199I	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.I199I|SEPT6_uc004ert.3_Silent_p.I199I|SEPT6_uc004eru.3_Silent_p.I199I|SEPT6_uc004erw.3_Silent_p.I141I|SEPT6_uc011mtv.1_Silent_p.I141I|SEPT6_uc011mtw.1_Silent_p.I229I	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	199					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGGTGATTTTGATTTTGAACT	0.478000			T	MLL	AML									60			27		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213734	9213734	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9213734G>A	uc010xkk.2	-	0	249	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GATTGGAGAGGAAGAAGTACA	0.502000														85			12		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4356465	4356465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4356465C>T	uc002fxt.3	+	7	1122	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F	SPNS3_uc002fxu.3_Missense_Mutation_p.L233F	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	360					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTACCTGGCTCTCGTCCTGGC	0.627000														135			10		0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217688185	217688185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:217688185G>A	uc001hlf.1	-	5	1241	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	382						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGAATCCGGGGAAAAATGAAC	0.358000														16			4		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855766	189855766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:189855766G>A	uc002uqj.1	+	10	952	c.835G>A	c.(835-837)Ggt>Agt	p.G279S	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	279	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGTGAAACAGGTGCTCCTGG	0.289000														21			3		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471438	76471438	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76471438G>A	uc010dhp.2	-	53	8558	c.8433C>T	c.(8431-8433)tcC>tcT	p.S2811S	DNAH17_uc002jvs.3_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGCCAGGCGGGAGAGGCTCT	0.602000														86			19		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42782999	42782999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42782999G>A	uc003bcn.4	-	4	787	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	250					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GTGTACCTGGGAGAGGGGGCT	0.627000														108			11		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084260	13084260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13084260C>T	uc002mwc.1	+	1	533	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	128	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GTGCTTTGGTCATTGCTCCTC	0.627000														95			12		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918460	31918460	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31918460G>A	uc003nyj.4	+	12	1967	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	CFB_uc011dor.2_Silent_p.G1065G	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	563	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACATTAATGGGAAAAAAGAAG	0.458000														328			18		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625320	73625320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73625320G>A	uc010dgl.3	-	15	2392	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	RECQL5_uc010dgk.3_Missense_Mutation_p.P701L|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	728					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTCTTCTCAGGGGAGGGCCC	0.652000								Other identified genes with known or suspected DNA repair function						38			6		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842231	5842231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5842231G>A	uc010qzp.2	+	0	666	c.666G>A	c.(664-666)atG>atA	p.M222I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTACACTATGATTTTGCAGG	0.433000														35			5		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187717	58187717	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58187717C>T	uc002qpu.3	+	2	901	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	68	SCAN box.				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)		TTTATAGGATCTTTCACTCAT	0.398000														29			4		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955002	30955002	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30955002C>T	uc003nsh.2	+	1	1301	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.S334S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	350	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACTCTGAGTCCAGCACAACCT	0.622000														153			7		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798221	38798221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38798221C>T	uc003ciq.3	-	8	1234	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	412					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCTTTGCTTCAATTTCATCA	0.507000														76			7		0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51584128	51584128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51584128C>T	uc001rxy.3	-	4	1000	c.808G>A	c.(808-810)Gag>Aag	p.E270K	POU6F1_uc001rxz.3_Missense_Mutation_p.E270K|POU6F1_uc001rya.3_Missense_Mutation_p.E270K	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	270					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						TAGTTGAGCTCCTTAGCAATT	0.557000														111			6		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121182770	121182770	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:121182770C>T	uc001led.3	+	4	665	c.432C>T	c.(430-432)gcC>gcT	p.A144A	GRK5_uc009xzh.3_Silent_p.A39A|GRK5_uc010qta.1_Silent_p.A39A	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	144	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTTTCTGCCTGTGCACAGT	0.582000														85			8		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58564129	58564129	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:58564129C>T	uc002ybe.3	+	8	1505	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	398	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTTCACCCCCAGAGCTTCA	0.562000														263			29		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348964	30348964	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:30348964C>T	uc002hgu.3	+	0	810	c.799C>T	c.(799-801)Caa>Taa	p.Q267*	LRRC37B_uc010wbx.2_Nonsense_Mutation_p.Q185*|LRRC37B_uc010csu.3_Nonsense_Mutation_p.Q267*	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	267						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCCCAAAAGTCAAAATCCAGA	0.547000														99			20		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85097370	85097370	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85097370C>T	uc010ysl.2	-	1	737	c.648G>A	c.(646-648)ttG>ttA	p.L216L	C2orf89_uc002sou.4_Silent_p.L216L|C2orf89_uc010fgc.2_Silent_p.L216L	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	216						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						TCAACCCATTCAATGGATGGC	0.498000														159			24		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270491	153270491	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153270491G>A	uc001fbn.1	-	6	1020	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	323					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.L323L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGGGGACAGGATGTTGACC	0.597000														176			45		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160964243	160964243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160964243G>A	uc002ubh.2	-	13	2230	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ITGB6_uc010fou.2_Missense_Mutation_p.R739C|ITGB6_uc010zcq.1_Missense_Mutation_p.R697C|ITGB6_uc010fov.1_Missense_Mutation_p.R739C	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	739	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACTTCTTTACGATCATGAAAT	0.458000														33			4		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202073923	202073923	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:202073923C>T	uc002uxj.1	+	8	1471	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.F284F|CASP10_uc002uxk.1_Silent_p.F308F|CASP10_uc002uxl.2_Silent_p.F351F|CASP10_uc002uxm.2_Silent_p.F308F	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	351					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GGGACTGCTTCGTGTTCTGTA	0.512000														58			4		0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646433	150646433	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150646433C>T	uc003ltr.4	+	2	550	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	GM2A_uc011dcr.2_Silent_p.L129L|GM2A_uc003ltt.1_Silent_p.L61L	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	129						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGAGCCCCTGCGTACCTA	0.512000														63			17		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784168	9784168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:9784168C>T	uc003gmb.4	+	0	911	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	172					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCCTCATCTCCTTCATTCCG	0.627000														45			6		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833692	37833692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:37833692C>T	uc021wja.1	-	0	302	c.302G>A	c.(301-303)gGg>gAg	p.G101E	CLDN14_uc002yvn.1_Missense_Mutation_p.G101E|CLDN14_uc002yvo.1_Missense_Mutation_p.G101E|CLDN14_uc002yvk.1_Missense_Mutation_p.G101E|CLDN14_uc002yvl.1_Missense_Mutation_p.G101E|CLDN14_uc002yvm.1_Missense_Mutation_p.G101E	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	101					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GCACTTCATCCCGATGACGGC	0.682000														63			10		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2525331	2525331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2525331C>T	uc001ajy.2	-	18	2003	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	597					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TGTGGCTGCTCCTTGCTGAAG	0.592000														43			11		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40063726	40063726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40063726G>A	uc002hyg.3	-	6	879	c.716C>T	c.(715-717)cCt>cTt	p.P239L	ACLY_uc002hyh.3_Missense_Mutation_p.P239L|ACLY_uc002hyi.3_Missense_Mutation_p.P293L|ACLY_uc010wfx.2_Missense_Mutation_p.P293L|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	239					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAAGGGGGGAGGGAACTCGAT	0.577000														94			6		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599268	29599268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:29599268G>A	uc001usl.4	+	0	521	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	145						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCAGTCTAGACGTTTTGGC	0.512000														58			15		0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62081208	62081208	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62081208G>A	uc002jdu.4	-	2	677	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Silent_p.L149L|ICAM2_uc010ded.3_Silent_p.L149L|ICAM2_uc002jdx.4_Silent_p.L149L|ICAM2_uc002jdv.4_Silent_p.L149L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	149	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CCACGGAACAGGAAGAGGGTG	0.602000														70			4		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35837316	35837316	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35837316C>A	uc003olj.3	-	10	1478	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	SRPK1_uc003olh.3_Nonsense_Mutation_p.E345*|SRPK1_uc003oli.3_Nonsense_Mutation_p.E345*|SRPK1_uc011dtg.2_Nonsense_Mutation_p.E436*	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	452	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGGGTATCTCTGCCCGAATG	0.468000														90			12		0.000978159	0.00098697	1	1	0
ZNF638	27332	broad.mit.edu	37	2	71653767	71653767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71653767C>T	uc002shx.3	+	23	5091	c.4768C>T	c.(4768-4770)Cgt>Tgt	p.R1590C	ZNF638_uc002shz.3_Missense_Mutation_p.R1590C|ZNF638_uc002shy.3_Missense_Mutation_p.R1590C|ZNF638_uc002sia.3_Missense_Mutation_p.R1590C|ZNF638_uc002sib.1_3'UTR|ZNF638_uc002sic.3_Missense_Mutation_p.R687C|ZNF638_uc002sid.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1590					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTCCACTCCTCGTGGTGTTGA	0.418000														34			4		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307638	46307638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46307638C>T	uc002pdm.3	-	2	1696	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E245K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	509	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCCTCCTCCTCGTCGCCCTCC	0.657000														41			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510693	110510693	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110510693C>T	uc003yne.3	+	65	10706	c.10602C>T	c.(10600-10602)agC>agT	p.S3534S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3534					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAAACAGAGCTCATTAATTG	0.428000										HNSCC(38;0.096)				30			6		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46496338	46496338	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46496338C>T	uc001cov.3	+	21	2896	c.2613C>T	c.(2611-2613)acC>acT	p.T871T	MAST2_uc001cow.3_Silent_p.T871T|MAST2_uc001coy.1_Silent_p.T545T|MAST2_uc001coz.1_Silent_p.T756T|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	871					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CACCCCCGACCAAGCGCAGCC	0.652000														11			5		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12131132	12131132	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:12131132C>T	uc003nac.3	+	5	6521	c.6342C>T	c.(6340-6342)cgC>cgT	p.R2114R	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2114					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGATGTCCGCCCCTACCACT	0.403000														32			6		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246579	65246579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65246579C>T	uc001xht.3	-	19	4388	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	SPTB_uc001xhr.3_Missense_Mutation_p.G1446E|SPTB_uc001xhs.3_Missense_Mutation_p.G1446E|SPTB_uc001xhu.3_Missense_Mutation_p.G1446E|SPTB_uc010aqi.3_Missense_Mutation_p.G107E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1446					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCCTCCTCTCCCATTGAAGG	0.577000														136			8		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134076145	134076145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:134076145G>A	uc003iha.3	+	2	3590	c.2764G>A	c.(2764-2766)Gat>Aat	p.D922N		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	922					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)		GGGAGATAGTGATCATGATGC	0.398000														68			4		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39905145	39905145	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39905145C>T	uc021olw.1	+	36	13749	c.13749C>T	c.(13747-13749)atC>atT	p.I4583I	MACF1_uc021ols.1_Silent_p.I4078I|MACF1_uc021olt.1_Silent_p.I4081I	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6148					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)			ATCCTTCCATCATCAAACAAC	0.438000														55			6		0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470966	53470966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53470966G>A	uc001sbt.2	-	1	190	c.103C>T	c.(103-105)Cga>Tga	p.R35*	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	35	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGACCTCTCGAATCTCCCGG	0.488000														48			4		0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192632	128192632	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:128192632G>A	uc010qum.2	-	3	1458	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf90_uc001ljp.3_Silent_p.N332N|C10orf90_uc001ljq.3_Silent_p.N379N|C10orf90_uc009yao.2_Silent_p.N476N|C10orf90_uc001ljs.1_Silent_p.N332N	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	379								p.F476F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAGTGACTTGGTTAGCTCCCA	0.493000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			4		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147183	145147183	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:145147183G>A	uc002tvu.3	-	9	4002	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F	ZEB2_uc010zbm.2_Silent_p.F1136F|ZEB2_uc002tvv.3_Silent_p.F1154F|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1160	Glu-rich (acidic).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTCCTCCTCGAACTCCTCGT	0.522000														132			9		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85617227	85617227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:85617227G>A	uc003hpd.3	-	57	9205	c.8797C>T	c.(8797-8799)Cat>Tat	p.H2933Y	WDFY3_uc003hpe.1_Missense_Mutation_p.H544Y	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2933	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAAAAAAGATGATGGAAGACA	0.418000														46			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229679	140229679	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140229679C>T	uc003lhu.2	+	0	2323	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.F533F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	547	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTACAGTTCCAGGTGAGCG	0.677000														136			11		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104231	53104231	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:53104231G>A	uc003tpz.3	+	0	883	c.867G>A	c.(865-867)caG>caA	p.Q289Q		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	289										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGTCACCCAGTCTGCTGGCC	0.612000														66			4		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134898364	134898364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134898364C>T	uc001llw.3	+	7	1426	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	224						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCTGAGCCTCCCTGAGGAGGA	0.642000														38			5		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93581431	93581431	+	Silent	SNP	G	A	A	rs11845925		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:93581431G>A	uc001ybg.3	-	1	367	c.78C>T	c.(76-78)gcC>gcT	p.A26A	ITPK1_uc001ybe.2_Silent_p.A26A|ITPK1_uc001ybf.3_5'UTR|ITPK1_uc001ybh.3_Silent_p.A26A	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	26					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCTCGGCGAAGGCCTGGAAAT	0.657000														23			5		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134755113	134755113	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134755113C>T	uc021qbc.1	-	2	389	c.288G>A	c.(286-288)ccG>ccA	p.P96P	TTC40_uc001llt.2_Silent_p.P96P|TTC40_uc001llu.3_Silent_p.P96P	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGCCGACTTCGGGGCACACA	0.577000														44			6		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100127916	100127916	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100127916G>A	uc001dsg.3	+	1	530	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	29					regulation of cell shape	cytoplasm|membrane		p.R28C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAAGCGTCTGAAAATAGAGG	0.269000														17			8		0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117808	117808	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:117808C>T	uc003zfz.3	-	0	610	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	104					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)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGAGGGGGGCTTTGCCGGCT	0.672000														155			32		0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606251	1606251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1606251C>T	uc001ltu.1	-	0	263	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	77	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCCCCCTTGGAGCCC	0.677000														98			6		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766566	57766566	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57766566G>A	uc002yan.3	+	0	492	c.492G>A	c.(490-492)cgG>cgA	p.R164R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	164						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)					AGCACATCCGGTCCCACACGG	0.627000														115			13		0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060858	139060858	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:139060858C>T	uc010jfg.1	+	1	1040	c.750C>T	c.(748-750)gcC>gcT	p.A250A	CXXC5_uc003let.2_Silent_p.A250A	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	250					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGCTGGCCTCTGCCATCA	0.647000														71			4		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523344	9523344	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:9523344G>A	uc002wnl.2	-	9	2438	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	PAK7_uc002wnk.2_Silent_p.I631I|PAK7_uc002wnj.2_Silent_p.I631I|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G630W(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTATCACCATGATCCCGAGGG	0.522000														42			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089417	9089417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9089417C>T	uc002mkp.3	-	0	2602	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	800	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G799V(1)		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						GCTGTCTCTTCCCCTGATGGA	0.512000														107			7		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126133132	126133133	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:126133132_126133133CC>TT	uc004bnx.1	+	6	1892_1893	c.1800_1801CC>TT	c.(1798-1803)ctcctg>ctTTtg	p.600_601LL>LL	CRB2_uc004bnw.1_Silent_p.600_601LL>LL	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	600	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGAACGTCCTCCTGGGCTGTGA	0.658000														32			8		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99999569	99999569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99999569G>A	uc003uut.3	-	16	1815	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S	ZCWPW1_uc011kjq.2_Missense_Mutation_p.P403S|ZCWPW1_uc003uur.3_Intron|ZCWPW1_uc003uus.3_Intron|ZCWPW1_uc011kjr.2_Intron|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	523							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGTGCAGGAGGAGCTGTG	0.547000														118			8		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8998712	8998712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8998712C>T	uc001quz.4	+	13	1675	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	A2ML1_uc001qva.1_Missense_Mutation_p.S106L|A2ML1_uc010sgm.2_Missense_Mutation_p.S26L	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	370						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACCTTCACTTCGAGACTGGCC	0.478000														94			6		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443912	158443912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:158443912G>A	uc002tzk.4	-	1	334	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ACVR1C_uc002tzl.4_Missense_Mutation_p.L31F|ACVR1C_uc010fof.3_Missense_Mutation_p.L31F|ACVR1C_uc010foe.3_5'UTR	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	31					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCACACAAAAGACATACACAC	0.368000														60			10		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100150	121100150	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121100150A>T	uc003eec.4	+	22	2570	c.2430A>T	c.(2428-2430)gaA>gaT	p.E810D	STXBP5L_uc011bji.2_Missense_Mutation_p.E786D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	810					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAACCGAGAAAATTCCTATA	0.294000														19			4		0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127083792	127083792	+	Missense_Mutation	SNP	G	A	A	rs143094065		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127083792G>A	uc004boh.3	+	5	712	c.451G>A	c.(451-453)Gag>Aag	p.E151K	NEK6_uc004bof.3_Missense_Mutation_p.E135K|NEK6_uc004bog.3_Missense_Mutation_p.E117K|NEK6_uc010mwk.3_Missense_Mutation_p.E117K|NEK6_uc022bnf.1_Missense_Mutation_p.E151K|NEK6_uc004boi.3_Missense_Mutation_p.E117K|NEK6_uc022bng.1_Missense_Mutation_p.E142K	NM_001145001	NP_055212	Q9HC98	NEK6_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA.	117	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CGAAGACAACGAGCTGAACAT	0.567000														50			4		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892525	17892525	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17892525C>T	uc002nhg.3	+	22	2112	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V	FCHO1_uc010ebb.2_Silent_p.V611V|FCHO1_uc002nhh.2_Silent_p.V611V|FCHO1_uc010xpw.1_Silent_p.V561V	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	611										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCCAGGAGTCTCCCGGGGTC	0.627000														116			28		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117261780	117261780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117261780G>A	uc001prc.3	+	16	2279	c.2132G>A	c.(2131-2133)aGg>aAg	p.R711K	CEP164_uc001prb.3_Missense_Mutation_p.R714K|CEP164_uc010rxk.1_Missense_Mutation_p.R685K|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.R144K	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	711	Glu-rich.				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)		AAGGCTGAGAGGGCCAGCTTG	0.542000														73			4		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155265495	155265495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155265495C>T	uc001fkb.4	-	2	375	c.336G>A	c.(334-336)atG>atA	p.M112I	PKLR_uc001fka.4_Missense_Mutation_p.M81I|PKLR_uc010pga.1_Missense_Mutation_p.M48I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCGCAATGTTCATCCCGGCCT	0.632000														55			11		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968488	200968488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200968488G>A	uc001gvs.2	-	12	2191	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	KIF21B_uc009wzl.2_Missense_Mutation_p.P625L|KIF21B_uc001gvr.2_Missense_Mutation_p.P625L|KIF21B_uc010ppn.2_Missense_Mutation_p.P625L	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	625					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						CTTCTCCTCGGGGTCTGAGTC	0.622000														78			14		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648243	112648243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:112648243G>A	uc003dzj.1	-	3	547	c.314C>T	c.(313-315)cCt>cTt	p.P105L	CD200R1_uc003dzk.1_Missense_Mutation_p.P82L|CD200R1_uc011bhx.1_Missense_Mutation_p.P60L|CD200R1_uc003dzl.1_Missense_Mutation_p.P105L|CD200R1_uc003dzm.1_Missense_Mutation_p.P82L	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	82	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGTGCAGGAAGGCTGGCCTCT	0.428000														24			3		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954705	161954705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161954705C>T	uc010pkq.2	-	6	1967	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	OLFML2B_uc001gbt.3_5'UTR|OLFML2B_uc001gbu.3_Missense_Mutation_p.E514K	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	514	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAGGCCCCTTCATTCCGCCCA	0.557000														125			7		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30576621	30576621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30576621G>A	uc003nqn.1	-	4	817	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	89	Interaction with TOX4 (By similarity).|TFIIS N-terminal.				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						TGGAGGAGGGGAATGTTGTTG	0.448000														46			5		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3139882	3139882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:3139882G>A	uc011ask.2	-	6	1104	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	IL5RA_uc010hbq.3_Missense_Mutation_p.H154Y|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.H154Y|IL5RA_uc011asl.2_Missense_Mutation_p.H154Y|IL5RA_uc011asm.1_Missense_Mutation_p.H154Y|IL5RA_uc010hbt.2_Missense_Mutation_p.H154Y|IL5RA_uc011asn.1_Missense_Mutation_p.H154Y|IL5RA_uc010hbu.2_Missense_Mutation_p.H154Y	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	154					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.L153F(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAGGTGCAGTGAAGGGAAACT	0.423000														48			4		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955469	55955469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:55955469C>T	uc010qhy.1	-	11	1689	c.1294G>A	c.(1294-1296)Gta>Ata	p.V432I	PCDH15_uc010qhq.2_Missense_Mutation_p.V432I|PCDH15_uc010qhr.2_Missense_Mutation_p.V427I|PCDH15_uc021pqv.1_Missense_Mutation_p.V427I|PCDH15_uc021pqw.1_Missense_Mutation_p.V432I|PCDH15_uc010qht.2_Missense_Mutation_p.V427I|PCDH15_uc021pqx.1_Missense_Mutation_p.V427I|PCDH15_uc001jjv.1_Missense_Mutation_p.V405I|PCDH15_uc021pqy.1_Missense_Mutation_p.V427I|PCDH15_uc021pqz.1_Missense_Mutation_p.V405I|PCDH15_uc010qhv.1_Missense_Mutation_p.V427I|PCDH15_uc010qhw.1_Missense_Mutation_p.V390I|PCDH15_uc010qhx.1_Missense_Mutation_p.V427I|PCDH15_uc010qhz.1_Missense_Mutation_p.V427I|PCDH15_uc010qia.1_Missense_Mutation_p.V405I|PCDH15_uc001jju.1_Missense_Mutation_p.V427I|PCDH15_uc010qib.1_Missense_Mutation_p.V405I|PCDH15_uc001jjw.3_Missense_Mutation_p.V427I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	427	Cadherin 4.				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)				TCCAGAGCTACTATTCTTAAA	0.363000										HNSCC(58;0.16)				37			4		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31349866	31349866	+	Silent	SNP	G	A	A	rs146395267		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:31349866G>A	uc001wqr.2	+	7	635	c.555G>A	c.(553-555)aaG>aaA	p.K185K	COCH_uc001wqp.2_Silent_p.K185K|COCH_uc001wqq.4_Silent_p.K185K|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'UTR	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	185	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix		p.K185K(2)|p.Q184Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		ATTTACAGAAGAATTTTGTTG	0.423000														78			8		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52553136	52553136	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52553136G>A	uc010bff.3	-	9	1398	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_3'UTR	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	412	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCCACAATGAAGTCGAACA	0.473000														69			24		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11412923	11412923	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11412923G>A	uc003wty.3	+	7	1283	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	234					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AGGATGAATGGGAGATCCCCC	0.597000														63			4		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176966008	176966008	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176966008G>A	uc003mhu.3	-	1	440	c.351C>T	c.(349-351)ctC>ctT	p.L117L	FAM193B_uc003mht.3_5'Flank|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	0										kidney(1)|large_intestine(3)	4						GATTCTTGACGAGCTTTGGCA	0.552000														75			6		0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698195	168698195	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168698195C>T	uc001gfp.3	-	0	248	c.218G>A	c.(217-219)tGg>tAg	p.W73*		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	73	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GGCGTAGTTCCATTGTCTGTC	0.582000														111			6		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112235944	112235944	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:112235944G>A	uc001tst.3	+	9	1242	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	ALDH2_uc010syi.2_Silent_p.A335A	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	382					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.A382V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AAGAGGGGGCGAAGCTGCTGT	0.547000			T	HMGA2	leiomyoma									38			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065824	9065824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9065824C>T	uc002mkp.3	-	2	21826	c.21622G>A	c.(21622-21624)Gcc>Acc	p.A7208T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7210	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A7208A(1)		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						GGTGATGTGGCTTTGGATGTC	0.478000														67			4		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452353	17452353	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17452353T>C	uc002ngg.4	+	7	1511	c.1416T>C	c.(1414-1416)ggT>ggC	p.G472G	GTPBP3_uc010xpo.2_Silent_p.G462G|GTPBP3_uc010eas.3_Silent_p.G440G|GTPBP3_uc002ngh.4_Silent_p.G419G	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	440					tRNA modification	mitochondrion	GTP binding|GTPase activity	p.Q471H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACCTCCAGGGTTGCCTGGATG	0.667000														76			3		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379274	23379274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:23379274G>A	uc002dln.3	+	4	1050	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	292					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTGGAACTGAATTCGGTGA	0.517000														94			7		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684359	34684359	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34684359T>A	uc001bxt.3	+	6	2632	c.1794T>A	c.(1792-1794)ttT>ttA	p.F598L	C1orf94_uc001bxs.4_Missense_Mutation_p.F408L	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	408							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)				GCATAAACTTTTAGATCTCCT	0.502000														47			11		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591773	70591773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70591773G>A	uc003xyl.3	-	7	2571	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	SLCO5A1_uc010lzb.3_Missense_Mutation_p.R567C|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.R622C	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	622						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATAACCACACGGAGCTGACTT	0.443000														98			4		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786387	112786387	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112786387C>T	uc002thk.1	+	18	3068	c.2946C>T	c.(2944-2946)ccC>ccT	p.P982P	MERTK_uc002thl.1_Silent_p.P806P	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	982					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCTCATTGCCCGATGAACTTT	0.507000														46			4		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73670595	73670595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:73670595C>T	uc001ouo.3	+	2	980	c.229C>T	c.(229-231)Cct>Tct	p.P77S		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	77					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GGGTGGGATTCCTTTGGAGTT	0.517000														52			4		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473018	2473018	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2473018C>T	uc003smc.3	+	1	907	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CHST12_uc003smd.3_Silent_p.F248F|CHST12_uc021zyu.1_Silent_p.F248F|CHST12_uc021zyv.1_Silent_p.F248F	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	248					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			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)		GCGACCCCTTCGTGCGCCTGA	0.597000														71			15		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21762904	21762904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21762904C>T	uc001wag.3	+	1	154	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	52					response to stimulus|visual perception	cilium		p.R52*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGTTTCTTTCGACTTCGCGA	0.393000														44			5		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57756955	57756955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57756955G>A	uc002emi.3	+	10	1539	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	CCDC135_uc002emj.3_Missense_Mutation_p.E484K|CCDC135_uc002emk.3_Missense_Mutation_p.E419K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	484						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCAGAACCGGGAAGACATGCT	0.582000														115			10		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297945	124297945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124297945G>A	uc001uft.4	+	18	3050	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	DNAH10_uc010tav.1_Missense_Mutation_p.E551K|DNAH10_uc010taw.1_Missense_Mutation_p.E494K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1009	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATTGTGATGGAGAAATTTGC	0.403000														83			6		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227920702	227920702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227920702G>A	uc021vxr.1	-	28	2776	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L	COL4A4_uc021vxs.1_Missense_Mutation_p.P892L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	892	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCTCCAAAGGGACCTGGGAT	0.592000														42			10		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246853	7246853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7246853G>A	uc002ggd.2	+	5	706	c.500G>A	c.(499-501)cGg>cAg	p.R167Q		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	167	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCTGGGTACCGGGGACGGGCA	0.652000														38			5		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19345875	19345875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19345875C>T	uc002nlz.3	+	9	3319	c.3220C>T	c.(3220-3222)Ccc>Tcc	p.P1074S	NCAN_uc010ecc.1_Missense_Mutation_p.P638S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1074	EGF-like 2; calcium-binding (Potential).				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCTTTGCCTCCCCAGCTATGG	0.542000														120			29		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949844	45949844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45949844G>A	uc001nbv.1	+	12	1982	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R593Q|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R624Q	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	624					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTGGTGCCACGAGACTGTCCC	0.637000														169			15		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45785615	45785615	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45785615A>G	uc003bgc.3	-	9	1760	c.1708T>C	c.(1708-1710)Ttc>Ctc	p.F570L	SMC1B_uc003bgd.3_Missense_Mutation_p.F570L|SMC1B_uc003bge.1_Missense_Mutation_p.F353L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	570	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGAGCGAGGAATGTCTCAGGT	0.373000														50			12		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867698	207867698	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207867698G>A	uc001hga.4	+	5	585	c.464_splice	c.e5-1	p.R155_splice	CR1L_uc001hfz.2_Splice_Site|CR1L_uc001hgb.1_Splice_Site	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	155	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTTTCCCAGGAATTATTTGT	0.383000														14			3		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127961123	127961123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:127961123C>T	uc002tod.2	-	1	134	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP27C1_uc021vnn.1_Missense_Mutation_p.M1I	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	1						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ATACGCTTCTCATCTTGAGCC	0.383000														74			16		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4057515	4057515	+	Missense_Mutation	SNP	G	A	A	rs144065949	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4057515G>A	uc002cvx.3	-	2	2277	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	580					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 plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCTGCAGCGAGACTCCTTG	0.522000														51			16		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314231	176314231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176314231C>T	uc003mfa.3	-	11	1800	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	HK3_uc003mez.3_Missense_Mutation_p.E126K	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	570	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACAGTCTCGGGAATGGAG	0.617000														39			5		0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169847945G>A	uc001ggs.2	-	2	379	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SCYL3_uc001ggt.2_Missense_Mutation_p.R61C	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	61	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.R61C(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408000														107			5		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112702606	112702606	+	Silent	SNP	C	T	T	rs148690514	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112702606C>T	uc002thk.1	+	2	674	c.552C>T	c.(550-552)atC>atT	p.I184I	MERTK_uc002thl.1_Silent_p.I8I	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	184	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATGAAGAGATCGTGTCTGATC	0.398000														19			4		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947810	148947810	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148947810C>T	uc003wfp.3	+	2	581	c.453C>T	c.(451-453)acC>acT	p.T151T		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	151	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.T151T(2)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TCTGTTTCACCGAGCAGGAAT	0.498000														105			8		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89662897	89662898	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89662897_89662898CC>TT	uc002fnp.3	+	16	1900_1901	c.1770_1771CC>TT	c.(1768-1773)tcccct>tcTTct	p.P591S	CPNE7_uc002fnq.3_Missense_Mutation_p.P516S	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	591					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCAGGCATCCCCTGCGGCGCT	0.634000														71			6		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121671	38121671	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38121671C>T	uc003atr.3	+	6	3379	c.3108C>T	c.(3106-3108)gaC>gaT	p.D1036D	TRIOBP_uc003atu.3_Silent_p.D864D|TRIOBP_uc003atq.1_Silent_p.D1036D|TRIOBP_uc003ats.1_Silent_p.D864D	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1036					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)					TGCAGCACGACCCCTTCCCCT	0.642000														101			18		0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35936467	35936467	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35936467C>T	uc001byx.3	-	5	1368	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S	KIAA0319L_uc010ohv.1_Silent_p.S12S|KIAA0319L_uc010ohw.2_Intron|KIAA0319L_uc010ohx.1_Intron	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	370	PKD 1.					cytoplasmic vesicle part|integral to membrane	protein binding	p.S370L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATTCACCTTCGATAGTTTGA	0.403000														66			15		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34490045	34490045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:34490045G>A	uc003zum.3	+	5	617	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	142					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TTCAGAAACAGGAAACCTCGA	0.498000									Kartagener syndrome					18			5		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90794104	90794104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90794104G>A	uc002bpd.1	+	1	530	c.242G>A	c.(241-243)aGa>aAa	p.R81K	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	81					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AGGAGGAAGAGAAGGCGGAAA	0.522000														95			28		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622144	64622144	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64622144G>A	uc010rnq.1	-	5	1355	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	EHD1_uc021qkz.1_Silent_p.F105F|EHD1_uc001obu.1_Silent_p.F422F|EHD1_uc001obv.1_Silent_p.F422F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	422					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGCCGTGCCCGAACGGCCCGT	0.662000														133			9		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447668	96447668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:96447668G>A	uc001kjv.4	+	1	636	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E104K|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	104					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.E104Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCCAGTGGCTGAAAAAGTTAA	0.458000														10			3		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167787464	167787464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167787464G>A	uc001ger.3	-	30	4626	c.4328C>T	c.(4327-4329)tCc>tTc	p.S1443F	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.S1290F|ADCY10_uc009wvk.3_Missense_Mutation_p.S1351F	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1443					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGCTCTATTGGAAAATTTGTA	0.383000														49			6		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606600	31606600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31606600C>T	uc002wyj.3	+	8	1021	c.827C>T	c.(826-828)gCc>gTc	p.A276V		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	276						extracellular region	lipid binding										AAGGCCGGTGCCCTCAACCTG	0.672000														50			11		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126056250	126056250	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:126056250G>A	uc003yrt.3	-	21	3083	c.2754C>T	c.(2752-2754)ccC>ccT	p.P918P	KIAA0196_uc011lir.2_Silent_p.P770P	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	918					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TACTTTTTAGGGGACTGACAG	0.378000														10			4		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89661103	89661103	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89661103G>A	uc001dnb.3	-	2	356	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	80						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGCCCAGAGGGAAGCCTGCAG	0.512000														50			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741975	140741975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140741975C>T	uc003ljs.2	+	0	2273	c.2273C>T	c.(2272-2274)tCa>tTa	p.S758L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.S758L|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	780					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)			TGTGTTGCCTCACAATCAGCC	0.493000														134			25		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278990	152278990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152278990C>T	uc001ezu.1	-	2	8408	c.8372G>A	c.(8371-8373)gGg>gAg	p.G2791E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2791	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P2790Q(1)		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)			TCTGCTTGACCCCGGGTGTCC	0.592000									Ichthyosis					614			34		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124411260	124411260	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124411260C>T	uc001uft.4	+	67	11669	c.11644C>T	c.(11644-11646)Ctg>Ttg	p.L3882L	DNAH10_uc001ufu.4_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3882	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTGTTTATCCTGAGTCCTGG	0.473000														39			4		0	0	1	0	0
C3orf24	115795	broad.mit.edu	37	3	10146467	10146467	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10146467C>T	uc003buz.3	-	2	218	c.-7_splice	c.e2-1		C3orf24_uc003bva.2_Intron|C3orf24_uc021wsy.1_5'Flank	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.											endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		ATTGACAGTCCTAAAGGAGGG	0.488000														64			4		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845319	101845319	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:101845319C>T	uc003uys.4	+	17	2902	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.S914S	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	914					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCCATCCTCCCCGATCGTGC	0.657000														80			10		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32914272	32914272	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32914272G>A	uc003amx.3	-	11	1530	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Silent_p.P455P|SYN3_uc011amc.1_Silent_p.P90P	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	456	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGTTGGGAGGGGCTTCCAG	0.577000														127			10		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752575	156752575	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156752575C>T	uc021ygm.1	+	16	2046	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	CYFIP2_uc011ddn.2_Silent_p.F611F|CYFIP2_uc011ddo.2_Silent_p.F441F|CYFIP2_uc021ygn.1_Silent_p.F636F|CYFIP2_uc021ygo.1_Silent_p.F636F|CYFIP2_uc003lwt.3_Silent_p.F540F|CYFIP2_uc011ddp.2_Silent_p.F371F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	662					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAATCCAGTTCCCCATCGAGA	0.527000														195			39		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350866	56350866	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56350866G>A	uc002ivu.1	-	8	1707	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	510					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGTCCAGGCGGAACATGAAGG	0.592000														157			10		0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345969	11345969	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11345969C>T	uc001asg.3	+	1	1132	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	266					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)		CACTGCTCTTCCTGCCCTACC	0.587000														99			21		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52864920	52864920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52864920G>A	uc001sal.4	-	4	1121	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	358	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCTCACCTTGGTCTGGTACCA	0.582000														148			22		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50596549	50596549	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50596549C>T	uc003bjj.3	+	22	3213	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	MOV10L1_uc003bjk.4_Silent_p.L1044L|MOV10L1_uc011arp.2_Silent_p.L1024L|MOV10L1_uc003bjl.3_Silent_p.L171L|MOV10L1_uc003bjm.1_Silent_p.L87L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1044					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)		CGTCCAGGTCCTGCGCTACTG	0.612000														60			18		0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856010	93856010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:93856010G>A	uc011cuk.2	-	4	1170	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	KIAA0825_uc003kkp.2_Missense_Mutation_p.R305C	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	305								p.R305C(6)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTAACCACACGAACAGCATTT	0.358000														19			5		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408573	10408573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10408573C>T	uc002gmo.3	-	20	2436	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	781	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTCATCTCGCATCTCCTC	0.463000														24			5		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503308	140503308	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140503308C>T	uc003lip.1	+	0	1728	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	576	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGGTGCCCCGGGCGGCCG	0.701000														83			10		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246386	233246386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233246386G>A	uc002vsq.3	+	10	1654	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	497						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCGCCTGCGACCTGGCGCC	0.746000														33			6		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999137	143999137	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:143999137G>A	uc003yxk.1	-	0	123	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	40					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.A40A(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGGGGCATGGCTTCAAACG	0.652000									Familial Hyperaldosteronism type I					79			16		0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60970872	60970872	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:60970872C>T	uc002agx.3	-	1	265	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_134261	NP_599023	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 1, mRNA.	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGTCTTCTTCGTTACTGAGA	0.413000														9			5		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932655	32932655	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32932655C>T	uc003cff.3	+	3	2022	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	653					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCAGTTCGACCGACCAG	0.632000														22			10		0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121206241	121206241	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:121206241G>A	uc001tzd.3	-	7	1145	c.660C>T	c.(658-660)gcC>gcT	p.A220A	SPPL3_uc001tzc.3_Silent_p.A50A	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	221						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGCTGAGTGGCCACCTTCA	0.542000														112			14		0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104773269	104773269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:104773269G>A	uc003vct.3	-	11	1875	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I	SRPK2_uc003vcu.3_Missense_Mutation_p.T563I|SRPK2_uc003vcv.3_Missense_Mutation_p.T574I|SRPK2_uc003vcs.1_Non-coding_Transcript	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	563	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCCGCAGGGGTGCTGTACCC	0.552000														4			4		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18626971	18626971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:18626971C>T	uc004cym.3	+	12	2238	c.1985C>T	c.(1984-1986)tCt>tTt	p.S662F	CDKL5_uc004cyn.3_Missense_Mutation_p.S662F|CDKL5_uc022btn.1_Missense_Mutation_p.S653F	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	662					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTGGCAAGATCTTCGGTCAAA	0.438000														19			5		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089055	86089055	+	Silent	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:86089055T>G	uc021rxf.1	+	0	1197	c.1197T>G	c.(1195-1197)acT>acG	p.T399T	FLRT2_uc001xvr.3_Silent_p.T399T|FLRT2_uc010atd.3_Silent_p.T399T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	399					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGCCTCCAACTCCTACCACAT	0.537000														51			12		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156924097	156924097	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156924097G>A	uc003lwz.3	-	14	1478	c.1399_splice	c.e14-1	p.L467_splice	ADAM19_uc003lww.2_Splice_Site_p.L200_splice|ADAM19_uc003lwy.3_Splice_Site_p.L66_splice|ADAM19_uc011ddr.1_Splice_Site_p.L398_splice	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	467	Disintegrin.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGCCAACAGCTGAGCCAAG	0.557000														18			4		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860804	13860804	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:13860804C>T	uc003bye.1	-	3	992	c.687G>A	c.(685-687)aaG>aaA	p.K229K		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	229					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGTACTTGTCCTTGAGCACGT	0.597000														64			8		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6165883	6165883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6165883G>A	uc002mef.1	+	6	822	c.595G>A	c.(595-597)Gat>Aat	p.D199N	ACSBG2_uc002mee.1_Missense_Mutation_p.D12N|ACSBG2_uc002meg.1_Missense_Mutation_p.D199N|ACSBG2_uc002meh.1_Missense_Mutation_p.D199N|ACSBG2_uc002mei.1_Missense_Mutation_p.D149N|ACSBG2_uc010xiz.1_Missense_Mutation_p.D199N	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	199					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGTGGGATGATTTCATGGA	0.517000											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			5		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899291	233899291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233899291G>A	uc010zmn.2	+	1	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	223							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCAGGTGGCCGAAGTCGAGAC	0.652000														35			8		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282724	47282724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47282724G>A	uc001cqn.4	+	8	1162	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	CYP4B1_uc001cqm.4_Missense_Mutation_p.D359N|CYP4B1_uc009vym.3_Missense_Mutation_p.D345N|CYP4B1_uc010omk.2_Missense_Mutation_p.D196N	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	359					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGCAGGGATGATCTGGGCAA	0.552000														147			14		0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26495639	26495639	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26495639C>T	uc010crj.3	+	5	1215	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	335	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGCAGAACTACTAGGACGAAG	0.408000														69			8		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490433	30490433	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30490433C>T	uc002dyi.4	+	4	525	c.349C>T	c.(349-351)Cga>Tga	p.R117*	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Intron|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	117					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGGGCTGTCTCGAACGTGTGA	0.517000														51			14		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232568155	232568155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:232568155G>A	uc001hvg.3	-	13	4252	c.4094C>T	c.(4093-4095)tCa>tTa	p.S1365L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S439L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1365	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACTTTGGATGAATCCAGAGA	0.483000														55			5		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702615	6702615	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6702615G>A	uc001qpo.3	-	15	2645	c.2481C>T	c.(2479-2481)gcC>gcT	p.A827A	CHD4_uc001qpn.3_Silent_p.A820A|CHD4_uc001qpp.3_Silent_p.A824A	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	827	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACCACGAATGGCATTGTCTT	0.507000														107			13		0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30642717	30642717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30642717C>T	uc003tbm.3	+	4	994	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	213					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGAATGTTTTCGTGCTGACCA	0.353000														46			6		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47249063	47249063	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47249063C>T	uc010fbb.3	+	11	1823	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	TTC7A_uc002rvm.3_Silent_p.F451F|TTC7A_uc002rvn.1_Silent_p.F366F|TTC7A_uc002rvo.3_Silent_p.F485F|TTC7A_uc010fbc.3_Silent_p.F131F|TTC7A_uc002rvp.3_Silent_p.F366F|TTC7A_uc002rvq.3_Silent_p.F225F|TTC7A_uc002rvr.3_Intron	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	485							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGGGGAGTTCCTCCCCAAGG	0.612000														84			5		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56346536	56346536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56346536G>A	uc001sij.3	+	20	2026	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	DGKA_uc009zod.1_Missense_Mutation_p.D507N|DGKA_uc001sik.3_Missense_Mutation_p.D588N|DGKA_uc001sil.3_Missense_Mutation_p.D588N|DGKA_uc001sim.3_Missense_Mutation_p.D588N|DGKA_uc001sin.3_Missense_Mutation_p.D588N|DGKA_uc009zof.3_Missense_Mutation_p.D234N|DGKA_uc001sio.3_Missense_Mutation_p.D330N	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	588					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GAAACCGCTGGATCTGAGCAA	0.562000														89			15		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546281	11546281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11546281C>T	uc010shk.1	-	2	766	c.731G>A	c.(730-732)gGa>gAa	p.G244E		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)			TGGGGGTGGTCCTTGTGGCTT	0.602000														181			16		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838890	100838890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:100838890G>A	uc003pqj.4	-	10	2115	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	SIM1_uc021zdg.1_Missense_Mutation_p.R550C|SIM1_uc010kcu.3_Missense_Mutation_p.R550C	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	550	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGCTCAGTACGATATCGGTCA	0.423000														50			4		0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139226837	139226837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139226837G>A	uc010lnd.3	+	3	503	c.503G>A	c.(502-504)tGg>tAg	p.W168*		NM_001080511	NP_001073980	P0C7M8	CLC2L_HUMAN	Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA.	168	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					GAATTCCACTGGGTCAACGGG	0.562000														19			3		0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100678503	100678503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:100678503C>T	uc004axv.1	-	1	271	c.194G>A	c.(193-195)aGg>aAg	p.R65K	C9orf156_uc004axw.1_5'UTR|C9orf156_uc010msq.1_5'UTR|C9orf156_uc022bku.1_Missense_Mutation_p.R65K	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	65					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				ATTAAAGATCCTCTTTCTAAT	0.418000														22			7		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892158	22892158	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22892158G>A	uc002zwf.3	-	3	1099	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Nonsense_Mutation_p.Q299*|PRAME_uc010gtr.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwg.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwh.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwi.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwj.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwk.3_Nonsense_Mutation_p.Q315*	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	315					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTGAGCAACTGATCCAGGCGG	0.493000														22			6		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378053	55378053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55378053G>A	uc002qhl.4	+	8	1298	c.1235G>A	c.(1234-1236)aGt>aAt	p.S412N	KIR3DL2_uc002qho.4_Missense_Mutation_p.S412N|KIR3DL2_uc010esh.3_Missense_Mutation_p.S395N			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	412					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGAAAAATCAGTCGCCCTTCT	0.517000														205			18		0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161587427	161587427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161587427C>T	uc003qtr.1	-	2	428	c.201G>A	c.(199-201)tgG>tgA	p.W67*	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Nonsense_Mutation_p.W67*|AGPAT4_uc011egd.1_Nonsense_Mutation_p.W5*|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	67					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TGCCCGACCACCACTCCAGCA	0.547000														46			4		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797800	76797800	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76797800C>A	uc003hix.3	-	10	1317	c.960G>T	c.(958-960)acG>acT	p.T320T	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.T320T	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	320	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTCTGTCTCGTTTTGCACC	0.522000														75			4		1	1	1	1	0
SLC38A10	124565	broad.mit.edu	37	17	79226967	79226967	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79226967C>A	uc002jzz.1	-	11	1737	c.1362G>T	c.(1360-1362)ctG>ctT	p.L454L	SLC38A10_uc002jzy.1_Silent_p.L372L|SLC38A10_uc002kab.3_Silent_p.L454L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	454					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGCCTGCTCCAGCTCCTCTC	0.657000											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		105			5		0.184627	0.185455	1	1	0
IGF1R	3480	broad.mit.edu	37	15	99251220	99251220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:99251220C>T	uc002bul.3	+	1	574	c.524C>T	c.(523-525)cCa>cTa	p.P175L	IGF1R_uc010urq.2_Missense_Mutation_p.P175L|IGF1R_uc010bon.3_Missense_Mutation_p.P175L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	175					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.P175Q(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AATAAGCCCCCAAAGGAATGT	0.517000														106			10		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76918415	76918415	+	Missense_Mutation	SNP	G	A	A	rs111033192		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76918415G>A	uc001oyb.2	+	41	6096	c.5824G>A	c.(5824-5826)Gga>Aga	p.G1942R	MYO7A_uc001oyc.2_Missense_Mutation_p.G1904R|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1942	FERM 2.				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						GTCCTCAGAGGGATTCAGCCT	0.567000														12			3		0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128657	150128657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:150128657C>T	uc003exv.3	+	0	1870	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.P507L	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	507							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCGGAGTTCCAAACGTGCCT	0.662000														30			4		0	0	1	0	0
C20orf112	140688	broad.mit.edu	37	20	31041211	31041211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31041211C>T	uc002wxu.4	-	4	818	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	221										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTGCAGGACTCGATGATGGCC	0.597000														44			4		0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1492538	1492538	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1492538G>A	uc010qwz.2	-	3	639	c.477C>T	c.(475-477)ttC>ttT	p.F159F	MOB2_uc001ltq.2_Silent_p.F122F|MOB2_uc001lto.2_Silent_p.F43F|MOB2_uc001ltp.1_5'UTR	NM_001172223	NP_001165694	Q70IA6	MOB2_HUMAN	Homo sapiens MOB kinase activator 2 (MOB2), transcript variant 1, mRNA.	128						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						ATTTTGTGGGGAACACGTCCT	0.592000														13			6		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196120	207196120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207196120G>A	uc001hfd.2	-	3	1248	c.989C>T	c.(988-990)cCt>cTt	p.P330L	C1orf116_uc009xcb.1_Missense_Mutation_p.P84L|C1orf116_uc021pii.1_Missense_Mutation_p.P84L	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	330						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGAATCTCCAGGGGCAGCCTC	0.557000														34			18		0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858423	65858423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:65858423C>T	uc001dce.1	+	11	1979	c.1778C>T	c.(1777-1779)cCc>cTc	p.P593L	DNAJC6_uc001dcc.1_Missense_Mutation_p.P567L|DNAJC6_uc001dcd.1_Missense_Mutation_p.P536L|DNAJC6_uc010opc.1_Missense_Mutation_p.P523L	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	536	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCAGCTGGTCCCACCCAGGCT	0.587000														13			3		0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436542	19436542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:19436542C>T	uc001reb.3	+	10	1732	c.1624C>T	c.(1624-1626)Ccc>Tcc	p.P542S	PLEKHA5_uc010sie.2_Missense_Mutation_p.P548S|PLEKHA5_uc001rea.3_Missense_Mutation_p.P542S|PLEKHA5_uc009zin.3_Missense_Mutation_p.P300S|PLEKHA5_uc010sig.2_Missense_Mutation_p.P434S|PLEKHA5_uc010sih.1_Missense_Mutation_p.P434S|PLEKHA5_uc021qvy.1_Missense_Mutation_p.P434S|PLEKHA5_uc001rec.1_Missense_Mutation_p.P230S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	542							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)					GCACTCTATTCCCACATCACC	0.458000														115			10		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178855150	178855150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:178855150C>T	uc001glz.3	+	12	1425	c.1087C>T	c.(1087-1089)Cca>Tca	p.P363S	RALGPS2_uc010pnb.2_Missense_Mutation_p.P363S	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	363					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGCAACGTTTCCAAATGCAGG	0.363000														25			6		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7566164	7566164	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7566164C>T	uc002mgm.2	+	1	597	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	152										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCCTCATCTTCGACCGCGACT	0.751000														24			6		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918850	52918850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52918850C>T	uc002pzh.3	+	6	1171	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	ZNF528_uc002pzi.3_Missense_Mutation_p.L16F	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATGTGGCAAGCTCTTCAGTAG	0.403000														38			6		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2429138	2429138	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2429138G>A	uc010qxl.2	-	18	2796	c.2787C>T	c.(2785-2787)gcC>gcT	p.A929A	TRPM5_uc001lwm.4_Silent_p.A929A|TRPM5_uc009ydn.3_Silent_p.A931A	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	929						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)		AGTTCACACGGGCTTCTGGAA	0.627000														276			25		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605947	48605947	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48605947C>T	uc003ctz.2	-	103	7780	c.7779G>A	c.(7777-7779)ggG>ggA	p.G2593G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2593	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.A2592T(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCAGGGATCCCTGCTGCAC	0.637000														30			4		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	796521	796521	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:796521C>T	uc010krz.1	+	5	1380	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	HEATR2_uc003siz.2_Silent_p.L322L	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	454				L -> M (in Ref. 3; AAH47240).			protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTCCGGCCTCCTGGTGCTGGC	0.647000														131			8		0	0	1	0	0
C15orf38-AP3S2	100526783	broad.mit.edu	37	15	90446517	90446517	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90446517G>A	uc002bos.4	-	4	758	c.603C>T	c.(601-603)gcC>gcT	p.A201A	C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Silent_p.A201A	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	201					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity										AACACTTTTGGGCCATGATGT	0.532000														100			25		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27459905	27459905	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:27459905G>A	uc002dor.2	+	9	1532	c.984G>A	c.(982-984)tgG>tgA	p.W328*	IL21R_uc002doq.2_Nonsense_Mutation_p.W306*|IL21R_uc002dos.2_Nonsense_Mutation_p.W306*|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	306					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.W306C(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGGGACCCTGGAGCCCAGAGG	0.607000			T	BCL6	NHL									19			5		0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103341984	103341984	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:103341984G>A	uc001ymc.2	+	4	674	c.321G>A	c.(319-321)aaG>aaA	p.K107K	TRAF3_uc001ymd.2_Silent_p.K107K|TRAF3_uc001yme.2_Silent_p.K107K|TRAF3_uc010txy.2_Silent_p.K107K	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	107					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		ATTGCTGCAAGAGAGAAATTC	0.403000														79			4		0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324215	57324215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57324215C>T	uc010sqw.2	-	1	499	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	119						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GTCAGCCATTCGTTGGGACCA	0.557000														30			8		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070449	112070449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:112070449C>T	uc001pnf.3	+	5	881	c.764C>T	c.(763-765)cCt>cTt	p.P255L	BCO2_uc001pne.1_Missense_Mutation_p.P82L|BCO2_uc001png.3_Missense_Mutation_p.P182L|BCO2_uc001pnh.3_Missense_Mutation_p.P221L|BCO2_uc010rwt.2_Missense_Mutation_p.P150L|BCO2_uc009yyn.3_Missense_Mutation_p.P221L|BCO2_uc001pni.3_Missense_Mutation_p.P221L	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	255					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATTCGGGTTCCTCCAGAGAAG	0.403000														48			7		0	0	1	0	0
IQCK	124152	broad.mit.edu	37	16	19746703	19746703	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19746703C>T	uc002dgr.3	+	4	1104	c.405C>T	c.(403-405)ttC>ttT	p.F135F	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Silent_p.F135F|IQCK_uc010bwc.3_Intron|IQCK_uc010vau.2_Silent_p.F47F	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	135										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGGAAACTTTCATCTTTCCTG	0.418000														27			4		0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046070	213046070	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:213046070C>T	uc001hjt.3	+	2	1132	c.934C>T	c.(934-936)Caa>Taa	p.Q312*		NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	312					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	p.Q312Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		AGCAGCTCTTCAAGACAGTCC	0.353000														25			5		0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2035946	2035946	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2035946C>A	uc002cob.3	+	2	605	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	TCRBV20S1_uc021tak.1_Intron|GFER_uc002coc.3_Missense_Mutation_p.R104S	NM_005262	NP_005253	P55789	ALR_HUMAN	Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA.	179	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						TGAAGTGAACCGCAAGCTGGG	0.602000														67			6		0.00198382	0.00200053	1	1	0
HFE2	148738	broad.mit.edu	37	1	145415583	145415583	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145415583C>T	uc001eni.2	+	2	727	c.402C>T	c.(400-402)gcC>gcT	p.A134A	HFE2_uc001enk.2_Silent_p.A21A|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	134					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)					ggggccccgcccTTCCAGGCG	0.687000														20			6		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124321	12124321	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:12124321G>A	uc003nac.3	+	3	4472	c.4293G>A	c.(4291-4293)cgG>cgA	p.R1431R	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1431					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACTGGTACGGCAAATATCTT	0.478000														34			10		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31905101	31905101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31905101G>A	uc011dor.2	+	4	799	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CFB_uc003nyc.2_Missense_Mutation_p.E119K|CFB_uc011doo.2_Missense_Mutation_p.E86K|CFB_uc011dop.2_Missense_Mutation_p.E118K|CFB_uc003nyf.3_Missense_Mutation_p.E332K|CFB_uc010jtk.3_Missense_Mutation_p.E200K|CFB_uc011doq.2_Missense_Mutation_p.E303K|CFB_uc003nyh.2_5'UTR	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	348	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCAGATCATGAAAATGGAAC	0.463000														254			18		0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197664273	197664273	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197664273G>A	uc002uts.3	-	0	220	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GTF3C3_uc010zgu.2_Silent_p.F21F|GTF3C3_uc002utu.3_Silent_p.F21F	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	21						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCCGCCGTTCGAACTCCTCAA	0.532000														108			10		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621098	8621098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:8621098G>A	uc003glm.3	+	10	1887	c.1713G>A	c.(1711-1713)atG>atA	p.M571I	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.M560I|CPZ_uc003gln.3_Missense_Mutation_p.M434I	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	571					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGCCCGGATGAAGAGGGCTG	0.582000														29			7		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818635	26818635	+	Splice_Site	SNP	C	T	T	rs139298501		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26818635C>T	uc010wan.2	+	5	969	c.902_splice	c.e5+1	p.S301_splice	SLC13A2_uc010wal.1_Splice_Site_p.S209_splice|SLC13A2_uc010wam.2_Splice_Site_p.S208_splice|SLC13A2_uc002hbh.3_Splice_Site_p.S252_splice|SLC13A2_uc010wao.2_Splice_Site_p.S209_splice|SLC13A2_uc002hbi.3_Splice_Site_p.S181_splice	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	252						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGATCAACTCGTGAGTGACA	0.632000														40			4		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876092	154876092	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:154876092C>T	uc003wlu.1	+	1	1033	c.969C>T	c.(967-969)ttC>ttT	p.F323F		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	323						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)		AAAGCATCTTCCTGTGGCTTG	0.507000														137			10		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142176316	142176316	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142176316G>A	uc003yvy.3	+	11	1619	c.1341G>A	c.(1339-1341)agG>agA	p.R447R	DENND3_uc010mep.3_Silent_p.R408R|DENND3_uc003yvz.1_Silent_p.R131R	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	447										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TAAGTCCAAGGAGACCGACCG	0.478000														169			17		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1556245	1556245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1556245C>T	uc002cly.3	+	16	2332	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	681						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGGGTGGCCCGAGGCAGGG	0.652000														86			8		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52696664	52696664	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52696664C>T	uc003pba.1	-	6	721	c.651G>A	c.(649-651)agG>agA	p.R217R		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	217					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGAAAATCTTCCTTGCTTCTT	0.438000														64			4		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147576	115147576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115147576G>A	uc001efd.1	-	10	2336	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.S488L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	545	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		CCAGTCCTTTGAATCAGGAAA	0.353000														17			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664453	179664453	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179664453A>G	uc021vsy.1	-	5	900	c.675T>C	c.(673-675)atT>atC	p.I225I	TTN_uc021vsz.1_Silent_p.I225I|TTN_uc021vta.1_Silent_p.I225I|TTN_uc021vtb.1_Silent_p.I225I|TTN_uc002unb.2_Silent_p.I225I|TTN_uc002und.3_Silent_p.I225I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	225							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)			AGTGGGCTTCAATCTTCTGTA	0.458000														42			9		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56651250	56651250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:56651250G>A	uc010xeg.2	+	9	3655	c.3458G>A	c.(3457-3459)aGg>aAg	p.R1153K	ZNF532_uc002lhp.3_Missense_Mutation_p.R1151K|ZNF532_uc002lho.3_Missense_Mutation_p.R1153K|ZNF532_uc002lhr.3_Missense_Mutation_p.R1151K|ZNF532_uc002lhs.3_Missense_Mutation_p.R1151K|ZNF532_uc010xeh.2_Missense_Mutation_p.R241K	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	1153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1153M(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGGAGTTCAGGCCTCCCCGA	0.488000														30			8		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609046	47609046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47609046G>A	uc001cqv.1	+	4	667	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CYP4A22_uc009vyo.3_Missense_Mutation_p.G206S|CYP4A22_uc009vyp.3_Missense_Mutation_p.G206S	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	206						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCCATCAGGGCAGCATCCA	0.577000														37			13		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260065	44260065	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:44260065G>A	uc010xcy.1	-	7	1747	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ST8SIA5_uc002lci.1_Silent_p.F204F|ST8SIA5_uc002lcj.1_Silent_p.F357F|ST8SIA5_uc010xcz.1_Silent_p.F326F	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	357					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCAAGTGCAGGAAGTTGAAGA	0.642000														73			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769403	140769403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140769403C>T	uc003lkc.2	+	0	1952	c.1952C>T	c.(1951-1953)cCa>cTa	p.P651L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	655	Cadherin 6.				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)			GGACAGCCACCACTCTCGGCC	0.692000														36			7		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122756840	122756840	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122756840A>G	uc001pym.3	+	1	580	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	C11orf63_uc001pyl.1_Missense_Mutation_p.K95E	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	95										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGCAAGTGGAAAAGCAGCTCA	0.532000														57			6		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157162	146157162	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:146157162G>A	uc003zet.3	-	3	1198	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	ZNF16_uc003zeu.3_Silent_p.I337I	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTTGATGTTGGATGAGGTTTG	0.478000														37			6		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209516	32209516	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:32209516C>T	uc003tco.2	-	2	225	c.189G>A	c.(187-189)ggG>ggA	p.G63G		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					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)			CCTTGACATTCCCTGTGAGCC	0.517000														39			8		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58137347	58137347	+	Silent	SNP	G	A	A	rs61752323		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:58137347G>A	uc002iyk.1	-	9	1544	c.1527C>T	c.(1525-1527)tcC>tcT	p.S509S	HEATR6_uc010ddk.1_Silent_p.S48S|HEATR6_uc010wos.1_Silent_p.S341S	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	509							binding	p.S509F(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CGATCATTACGGAGAAGGGGG	0.453000														96			23		0	0	1	0	0
NCF1C	654817	broad.mit.edu	37	7	74582391	74582391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:74582391C>T	uc003ubv.3	-	3	413	c.274G>A	c.(274-276)Gac>Aac	p.D92N	NCF1C_uc011kfn.2_Missense_Mutation_p.D92N|NCF1C_uc011kfo.2_Missense_Mutation_p.D90N					Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		TTGAAGAAGTCAAGGAGGTGG	0.622000														18			8		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17612167	17612167	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17612167G>A	uc002ngu.1	+	10	1772	c.1722G>A	c.(1720-1722)aaG>aaA	p.K574K	SLC27A1_uc010xpp.1_Silent_p.K395K|SLC27A1_uc002ngv.1_Silent_p.K176K	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	574					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGCTGCAGAAGGTGCTGGCAC	0.642000														55			9		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659624	39659624	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39659624T>C	uc002hwu.1	-	2	713	c.650A>G	c.(649-651)gAg>gGg	p.E217G	KRT13_uc002hwv.1_Missense_Mutation_p.E217G|KRT13_uc010wfr.2_Missense_Mutation_p.E110G|KRT13_uc010cxo.3_Missense_Mutation_p.E217G|KRT13_uc021txk.1_Missense_Mutation_p.E110G	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	217	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CAGAGTGAGCTCATCCAGCAC	0.502000														89			5		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031474	43031474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43031474C>T	uc002otv.3	-	1	278	c.143G>A	c.(142-144)gGg>gAg	p.G48E	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.G48E|CEACAM1_uc002otw.3_Missense_Mutation_p.G48E|CEACAM1_uc002otx.3_Missense_Mutation_p.G48E|CEACAM1_uc002oty.3_Missense_Mutation_p.G48E|CEACAM1_uc002otz.3_Missense_Mutation_p.G48E|CEACAM1_uc010eik.3_Missense_Mutation_p.G48E|CEACAM1_uc002oua.3_Missense_Mutation_p.G48E|CEACAM1_uc002oub.3_Missense_Mutation_p.G48E|CEACAM1_uc002ouc.3_Missense_Mutation_p.G48E	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	48	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AACCTCCTTCCCCTCTGCAAC	0.517000														116			15		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676356	11676356	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11676356C>T	uc021zzo.1	-	1	675	c.423G>A	c.(421-423)gaG>gaA	p.E141E	THSD7A_uc021zzn.1_Silent_p.E141E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	141						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAAGAGGTTTCTCTAGGCTTT	0.463000										HNSCC(18;0.044)				45			4		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2058478	2058478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2058478G>A	uc001qjx.1	-	7	1627	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	DCP1B_uc010sdy.1_Missense_Mutation_p.P414L	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	516					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGCTGTAGCAGGGATGCGCTG	0.597000														40			7		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333650	70333650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70333650C>T	uc001jok.4	+	1	2060	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	519					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						CCCATTAGCCCCTGAGAGAGG	0.483000														38			4		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349300	55349300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55349300C>T	uc002qhm.1	+	2	386	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	KIR3DL2_uc010yfj.2_Missense_Mutation_p.P107S|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.P114S|KIR3DL2_uc002qhn.1_Missense_Mutation_p.P61S	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	209					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTTGTCAGCTCCCAGTGACCC	0.512000														276			41		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475575	32475575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:32475575C>T	uc002roi.3	-	3	1619	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	NLRC4_uc021vfq.1_Missense_Mutation_p.R453Q|NLRC4_uc002roj.2_Missense_Mutation_p.R453Q|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	453	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.R453*(1)|p.R453Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTGAGTCTTCGTCCTGCTGT	0.448000														94			7		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17548825	17548826	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17548825_17548826AG>TA	uc001bah.1	+	1	225_226	c.133_134AG>TA	c.(133-135)agc>TAc	p.S45Y		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	45					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)	GGTCTCTGGAAGCTCCGGGGTG	0.569000														78			27		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21728264	21728264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21728264G>A	uc002djh.3	+	13	1526	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.E430K|OTOA_uc002dji.3_Missense_Mutation_p.E185K|OTOA_uc010vbk.2_Missense_Mutation_p.E157K	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	523					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGGCATCGTGGAGATACAAGG	0.468000														85			11		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115079130	115079130	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115079130G>A	uc001eez.3	-	28		c.4513C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GAAGTGGGCAGCAAGATCTAC	0.493000														121			7		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219559031	219559031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219559031C>T	uc002viu.3	+	19	2660	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	STK36_uc002viv.3_Missense_Mutation_p.S794L|STK36_uc002vix.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	794					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)		TTTACCCATTCGCATGTCGTC	0.468000														115			18		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814091	123814091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123814091C>T	uc010sab.2	-	0	455	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAGAGGAATCCAGCTAGCCA	0.562000														19			3		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844140	15844140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15844140G>A	uc002ddx.3	-	16	2041	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	MYH11_uc002ddv.3_Missense_Mutation_p.S645L|MYH11_uc002ddw.3_Missense_Mutation_p.S638L|MYH11_uc002ddy.3_Missense_Mutation_p.S638L|MYH11_uc010bvg.3_Missense_Mutation_p.S470L|MYH11_uc002dea.1_Missense_Mutation_p.S344L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	638	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGGGCAGCGAGCTCTCCGT	0.627000			T	CBFB	AML									29			4		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76780392	76780392	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:76780392C>T	uc001jwn.1	+	13	3175	c.2682C>T	c.(2680-2682)ctC>ctT	p.L894L	KAT6B_uc001jwm.1_Silent_p.L602L|KAT6B_uc001jwo.1_Silent_p.L602L|KAT6B_uc001jwp.1_Silent_p.L711L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	894	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AAAAGCCTCTCTCCGATCTGG	0.493000														22			3		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678838	50678838	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50678838G>A	uc001jhs.4	-	17	3322	c.3168C>T	c.(3166-3168)ttC>ttT	p.F1056F	ERCC6_uc009xod.3_Silent_p.F216F|ERCC6_uc010qgr.2_Silent_p.F426F|ERCC6_uc001jhr.4_Silent_p.F424F	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1056					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						TAGAAGCAGGGAACTTCTTGC	0.418000								Direct reversal of damage;Nucleotide excision repair (NER)						75			6		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669758	95669758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95669758G>A	uc001yef.2	-	8	2044	c.1928C>T	c.(1927-1929)cCt>cTt	p.P643L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	643						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGGGGCTGAAGGACAGCCTTC	0.478000														72			7		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3037241	3037241	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3037241C>T	uc003ggn.1	+	12	1853	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	GRK4_uc003ggo.1_Silent_p.F466F|GRK4_uc003ggp.1_Silent_p.F434F|GRK4_uc003ggq.1_Silent_p.F434F	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	466	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCCCTTTCTGTCCTGATG	0.557000														76			7		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016237	134016237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134016237G>A	uc009ybb.3	+	11	1523	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	457					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-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;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCTGGAGGACGGGAAGATGTT	0.617000														94			9		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043636	20043636	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20043636G>A	uc002dgu.1	-	1	645	c.483C>T	c.(481-483)atC>atT	p.I161I	GPR139_uc010vaw.1_Silent_p.I68I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	161						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGTAATAGGGGATGCTGGTCA	0.547000														51			8		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31330939	31330939	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31330939G>A	uc003aje.1	-	19	3200	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	674							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGGCTTTCGGGGTGCCTCAG	0.617000														63			6		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601823	43601823	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43601823G>A	uc001jal.3	+	5	1058	c.868_splice	c.e5-1	p.D290_splice	RET_uc001jak.1_Splice_Site_p.D290_splice|RET_uc010qez.1_Splice_Site_p.D36_splice	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	290					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCATCCTGCAGGACACCGTGG	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					27			5		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17607261	17607261	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17607261G>A	uc001bai.3	+	14	1771	c.1731G>A	c.(1729-1731)agG>agA	p.R577R		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	577					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)	AGACCGAGAGGAAAAAAGCAA	0.542000														93			7		0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3197817	3197817	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:3197817G>A	uc002qxj.2	-	6	967	c.774C>T	c.(772-774)acC>acT	p.T258T	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	258							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGACATTTCGGGTGTCCCAGA	0.562000														73			11		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43612101	43612101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43612101G>A	uc001jal.3	+	11	2396	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	RET_uc001jak.1_Missense_Mutation_p.G736R|RET_uc010qez.1_Missense_Mutation_p.G482R	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	736	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGGCGAATTTGGAAAAGTGGT	0.517000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					171			20		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80636063	80636063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:80636063G>A	uc003pja.4	-	1	455	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	46					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GTAGGCCAAGGAGACTGCATC	0.378000														11			5		0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36343727	36343727	+	Silent	SNP	C	T	T	rs149881845	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36343727C>T	uc003omb.3	-	2	487	c.228G>A	c.(226-228)gcG>gcA	p.A76A	ETV7_uc003olz.2_Silent_p.A76A|ETV7_uc003oma.2_Intron|ETV7_uc003omc.3_Intron|ETV7_uc010jwj.3_Missense_Mutation_p.G4R|ETV7_uc010jwi.3_Silent_p.A76A|ETV7_uc010jwh.3_5'UTR|ETV7_uc011dtl.2_Intron	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	76	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						ACCCGTGCTCCGCGGTGCATG	0.652000														53			6		0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047129	46047129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46047129C>T	uc002zfp.4	+	0	90	c.41C>T	c.(40-42)tCc>tTc	p.S14F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	14						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						AGCGCTTACTCCGACTCCTGG	0.677000														71			4		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12858259	12858259	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:12858259C>T	uc001ilo.3	+	7	1000	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CAMK1D_uc001iln.3_Silent_p.F255F	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	255	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAAAAGACTTCATTCGGAACC	0.507000														158			36		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821733	97821733	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97821733C>T	uc003upd.2	+	10	2249	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	652					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAAAAATATTCGACTTAATGG	0.433000														54			15		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31301954	31301954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31301954G>A	uc003aiy.1	+	12	2610	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	OSBP2_uc011ala.1_Missense_Mutation_p.E670K|OSBP2_uc010gwc.1_Missense_Mutation_p.E663K|OSBP2_uc011alb.1_Missense_Mutation_p.E787K|OSBP2_uc003aiz.1_Missense_Mutation_p.E835K|OSBP2_uc003aja.1_Missense_Mutation_p.E469K|OSBP2_uc011alc.2_Missense_Mutation_p.E578K|OSBP2_uc011ald.1_Missense_Mutation_p.E380K|OSBP2_uc010gwd.1_Missense_Mutation_p.R319Q	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	836					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCGTTGGGACGAGGCCAATAC	0.716000														18			7		0	0	1	0	0
DEFB136	613210	broad.mit.edu	37	8	11831592	11831592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11831592G>A	uc011kxm.2	-	1	91	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	Homo sapiens defensin, beta 136 (DEFB136), mRNA.	31					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGCAGGTGCGAACTTTGACT	0.458000														144			9		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535661	69535661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:69535661G>A	uc021xow.1	-	0	834	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	226					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCATAAATTTGAAACCAAAAG	0.318000														27			5		0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50854977	50854977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50854977C>T	uc001rwp.2	+	10	1383	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	LARP4_uc001rwq.2_Missense_Mutation_p.S323F|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Missense_Mutation_p.S393F|LARP4_uc001rwr.2_Intron|LARP4_uc021qxv.1_Missense_Mutation_p.S324F|LARP4_uc009zlr.1_Missense_Mutation_p.S213F|LARP4_uc001rwm.3_Missense_Mutation_p.S394F|LARP4_uc001rwn.3_Missense_Mutation_p.S324F	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	394							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGCTCTGTATCCTTGGGGGAT	0.438000														68			8		0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780393	65780393	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65780393T>C	uc001ogr.3	+	1	391	c.337T>C	c.(337-339)Tgc>Cgc	p.C113R	CST6_uc001ogs.1_Missense_Mutation_p.C23R	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	113					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						CCTCACCACTTGCCCCCTGGC	0.642000														40			4		0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462877	224462877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:224462877G>A	uc021vxk.1	-	0	1124	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L	SCG2_uc002vnm.3_Missense_Mutation_p.P375L	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	375					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P375L(2)|p.K374Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGATCCATTCGGCTTCTCCCC	0.458000														43			14		0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39589264	39589264	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39589264C>T	uc002oki.3	+	2	562	c.288C>T	c.(286-288)gtC>gtT	p.V96V	PAPL_uc010egl.3_Silent_p.V96V	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	96						extracellular region	acid phosphatase activity|metal ion binding										TACACCGAGTCACGCTTCGCA	0.647000														52			5		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52938396	52938396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52938396G>A	uc001sao.3	-	8	1562	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	498	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACTGCCCCGGCTCCTGCCC	0.622000														111			7		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833374	37833374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:37833374G>A	uc021wja.1	-	0	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I	CLDN14_uc002yvn.1_Missense_Mutation_p.T207I|CLDN14_uc002yvo.1_Missense_Mutation_p.T207I|CLDN14_uc002yvk.1_Missense_Mutation_p.T207I|CLDN14_uc002yvl.1_Missense_Mutation_p.T207I|CLDN14_uc002yvm.1_Missense_Mutation_p.T207I	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	207					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GGCAGGTGCGGTGTTTGCAGT	0.647000														89			5		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019208	27019208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:27019208G>A	uc003acz.4	+	2	85	c.50G>A	c.(49-51)tGg>tAg	p.W17*		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	17	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ATGGTGGTGTGGGATGAGGAC	0.602000														124			8		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938602	2938602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2938602G>A	uc001ajz.3	+	0	557	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	118						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAACCCCAGGGAGAACCGTGA	0.607000														72			4		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70342949	70342949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70342949C>T	uc004dyy.3	+	10	1689	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	MED12_uc011mpq.1_Missense_Mutation_p.S497F|MED12_uc004dyz.3_Missense_Mutation_p.S497F|MED12_uc004dza.3_Missense_Mutation_p.S344F|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	497					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTCCAGATCTCCTCAGATGAT	0.488000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							70			23		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475411	16475411	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16475411G>A	uc001aya.2	-	2	440	c.285C>T	c.(283-285)ttC>ttT	p.F95F	EPHA2_uc010oca.2_Silent_p.F95F	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	95				IFIELK -> NNFELN (in Ref. 1; AAA53375).	activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGAGCTCAATGAAGATACGCT	0.557000														74			11		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50780109	50780109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:50780109C>T	uc021vhh.1	-	7	2296	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	NRXN1_uc002rxb.4_Missense_Mutation_p.G131R|NRXN1_uc021vhg.1_Missense_Mutation_p.G499R|NRXN1_uc021vhi.1_Missense_Mutation_p.G495R|NRXN1_uc021vhj.1_Missense_Mutation_p.G455R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	459	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAGGATCTCCTTGCTTGGCA	0.408000														100			4		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129784872	129784872	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129784872G>A	uc001qfm.3	-	17	2812	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	PRDM10_uc001qfj.3_Silent_p.F774F|PRDM10_uc001qfk.3_Silent_p.F770F|PRDM10_uc001qfl.3_Silent_p.F774F|PRDM10_uc010sbx.2_Silent_p.F770F|PRDM10_uc001qfn.3_Silent_p.F856F|PRDM10_uc009zcs.1_Silent_p.F43F	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F856F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGAGCTGGGCGAACTCTGGAT	0.468000														84			7		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795158	109795158	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109795158C>T	uc001dxa.4	+	0	2518	c.2457C>T	c.(2455-2457)tcC>tcT	p.S819S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	819	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCGAGACTCCTACCAGGGCA	0.547000														503			28		0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115873	145115873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145115873G>A	uc001eml.1	+	5	769	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	211					ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										GTGTATGTCCGATTCTGGTGG	0.413000														84			6		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149521723	149521723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149521723G>A	uc010lpk.3	+	94	13793	c.13793G>A	c.(13792-13794)aGc>aAc	p.S4598N	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4601					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCACCCCTCAGCCAGCAGCGC	0.697000														13			4		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48210901	48210901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48210901G>A	uc002eff.1	-	23	3822	c.3472C>T	c.(3472-3474)Ctt>Ttt	p.L1158F	ABCC11_uc002efg.1_Missense_Mutation_p.L1158F|ABCC11_uc002efh.1_Missense_Mutation_p.L1158F|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1158	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGCCGTGAAGCACGGTGGGT	0.572000														17			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791139	106791139	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106791139C>T	uc021ser.1	-	619		c.17253G>A								Parts of antibodies, mostly variable regions.																		TTACTTCCATCATATGATATA	0.512000														214			9		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110765	72110765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72110765G>A	uc002fby.3	+	4	862	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	278	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.N277H(1)		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)				CATACTGAACGAACACACCTT	0.552000														42			6		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46180351	46180351	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46180351C>T	uc002pcu.1	+	7	877	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	GIPR_uc002pct.1_Silent_p.L260L|GIPR_uc010xxp.1_Silent_p.L224L|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642B_uc021uvy.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	260					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		p.L260L(2)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCGCTACTACCTGCTCCTCGG	0.692000														52			4		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777154	60777154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60777154G>A	uc001nqq.3	+	4	1117	c.892G>A	c.(892-894)Gag>Aag	p.E298K	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Missense_Mutation_p.E298K|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.E298K|CD6_uc001nqt.3_Missense_Mutation_p.E298K	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	298	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GTACCCATCGGAGGCCAAGGT	0.632000														51			4		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460820	66460820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66460820G>A	uc001ojd.3	-	22	4763	c.4691C>T	c.(4690-4692)gCt>gTt	p.A1564V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1564					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGCAGCTCAGCCAGCTCTGG	0.637000														42			9		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234847723	234847723	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234847723C>T	uc002vvh.3	+	4	470	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.L94L|TRPM8_uc002vvj.3_Silent_p.L67L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	144						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AACACCCAACCTGGTCATTTC	0.567000														91			6		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300355	62300355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62300355G>A	uc001ntl.3	-	4	1834	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	512					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAGTTTAGGAGACCCAAGG	0.448000														114			5		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24507679	24507679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:24507679G>A	uc002rfe.2	-	16	2155	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.3_Missense_Mutation_p.L633F	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	633					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGACAAAAGGCACTGAAGA	0.313000														48			4		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024363	27024363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:27024363G>A	uc003acz.4	+	4	447	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	138	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGAAGGCAATGAAGTAGGGTC	0.562000														70			5		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	A	A	rs151037028		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46826469G>A	uc003oyo.3	-	16	3460	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_uc011dwj.1_Silent_p.I612I|GPR116_uc011dwk.1_Silent_p.I486I|GPR116_uc003oyp.3_Silent_p.I915I|GPR116_uc003oyq.3_Silent_p.I1057I|GPR116_uc010jzi.1_Silent_p.I729I	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1057					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1057I(4)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGGCAGCGATATTCACTA	0.537000														50			5		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50212045	50212045	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50212045G>A	uc010eng.3	+	13	1831	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	CPT1C_uc002ppl.4_Silent_p.P471P|CPT1C_uc002ppi.3_Silent_p.P422P|CPT1C_uc002ppk.3_Silent_p.P494P|CPT1C_uc010enh.3_Silent_p.P505P|CPT1C_uc002ppj.3_Silent_p.P505P|CPT1C_uc010ybc.1_Silent_p.P376P|CPT1C_uc010eni.1_Silent_p.P162P	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	505					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.P505P(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGGGCACCCGGACCCCACAC	0.597000														90			12		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317817	30317817	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:30317817G>A	uc009xle.2	-	2	1397	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	KIAA1462_uc001iux.3_Silent_p.F420F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.F282F	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	420										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTACTGAACGAAGCCGTCAT	0.522000														97			6		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258227	25258227	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:25258227G>A	uc002dod.4	-	4	1697	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	ZKSCAN2_uc010vcl.2_Silent_p.A226A|ZKSCAN2_uc002doe.2_Silent_p.A430A	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	430					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACGGAGCACGGGCTGCAGGGT	0.498000														47			5		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70917972	70917972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:70917972C>T	uc021vjc.1	-	7	1060	c.795G>A	c.(793-795)atG>atA	p.M265I	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.M265I|ADD2_uc002sgz.3_Missense_Mutation_p.M265I|ADD2_uc010fdt.2_Missense_Mutation_p.M265I|ADD2_uc002shc.2_Missense_Mutation_p.M265I|ADD2_uc010fdu.2_Missense_Mutation_p.M281I	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	265					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						CTTCCTGCTCCATTTCCCCAT	0.537000														70			17		0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257367	41257367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:41257367C>T	uc003azj.3	-	0	764	c.632G>A	c.(631-633)aGa>aAa	p.R211K	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	211					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTCAGCTTCTCTTTCTTGATC	0.348000														65			6		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3661086	3661086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3661086C>T	uc002fwo.4	-	8	1033	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	312	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATGCCACCATCGGTGAGCACC	0.537000														174			12		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42798663	42798663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42798663C>T	uc003cly.4	-	2	349	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CCDC13_uc003clz.2_Missense_Mutation_p.E89K|CCDC13_uc011azq.1_Missense_Mutation_p.E89K	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	89										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCACCGTTTCCCTGAGCTCA	0.473000														112			6		0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46623587	46623587	+	Nonstop_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46623587T>A	uc002pea.1	-	3	403	c.378A>T	c.(376-378)taA>taT	p.*126Y		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	0						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		cctggggtttttatgggtaca	0.478000														41			7		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562585	140562585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140562585G>A	uc003liv.3	+	0	1606	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	151	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTAGGAACTGAGTTCCCTCT	0.403000														25			4		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661795	139661795	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139661795C>T	uc011kqv.2	+	9	1273	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	TBXAS1_uc003vvh.3_Silent_p.I300I|TBXAS1_uc010lne.3_Silent_p.I232I|TBXAS1_uc011kqu.2_Silent_p.I251I|TBXAS1_uc003vvi.3_Silent_p.I300I|TBXAS1_uc011kqw.2_Silent_p.I280I|TBXAS1_uc003vvj.3_Silent_p.I300I	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	299					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)					ACTTTGACATCGTCAGAGACG	0.537000														30			4		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382511	56382511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56382511C>T	uc002ivx.4	-	29	6326	c.5455G>A	c.(5455-5457)Ggc>Agc	p.G1819S	BZRAP1_uc002ivv.3_Missense_Mutation_p.G49S|BZRAP1_uc002ivw.3_Missense_Mutation_p.G51S|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1759S|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1810S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1819	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACCAGGCCCCTTTGTCCA	0.622000														44			7		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5208026	5208026	+	Silent	SNP	G	A	A	rs138437349		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5208026G>A	uc002mbv.3	-	36	5919	c.5685C>T	c.(5683-5685)atC>atT	p.I1895I	PTPRS_uc002mbu.1_Silent_p.I1464I|PTPRS_uc010xin.2_Silent_p.I1437I|PTPRS_uc002mbw.3_Silent_p.I1857I|PTPRS_uc002mbx.3_Silent_p.I1452I|PTPRS_uc002mby.3_Silent_p.I1448I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1895	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCTCCAGCACGATGCTAAGCG	0.602000														39			12		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833005	97833005	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97833005C>T	uc003upd.2	+	11	4520	c.4227C>T	c.(4225-4227)tcC>tcT	p.S1409S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1409					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCGAAAGCTCCACCGACGAAG	0.522000														21			6		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291289	22291289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:22291289G>A	uc004dai.2	+	0	260	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	61						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGACAAATGTGATTTGCCTAT	0.348000														19			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077304	9077304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9077304G>A	uc002mkp.3	-	2	10346	c.10142C>T	c.(10141-10143)tCa>tTa	p.S3381L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3382	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						ATCTGTCAATGAGCTCACAGA	0.473000														95			9		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370750	76370750	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76370750G>A	uc001oxq.4	-	2	2130	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	LRRC32_uc001oxr.4_Silent_p.I629I|LRRC32_uc010rsf.2_Silent_p.I615I	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	629						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGAGGATGATGATGAGGTTGA	0.577000														108			9		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50346491	50346491	+	Missense_Mutation	SNP	C	T	T	rs142435125	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50346491C>T	uc002xwg.1	-	1	95	c.95G>A	c.(94-96)gGt>gAt	p.G32D	ATP9A_uc010gih.1_Missense_Mutation_p.G17D	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	32					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCCCCTCCACCGCAGCATCT	0.597000														111			18		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059060	248059060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248059060C>T	uc010pzb.2	+	0	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	OR2W3_uc001idp.1_Missense_Mutation_p.P58S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			CCTCCACACCCCCATGTACTT	0.572000														127			15		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209806	10209806	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10209806C>T	uc002gmk.1	-	36	5526	c.5436G>A	c.(5434-5436)ggG>ggA	p.G1812G		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1812					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGCTTCTTCCCGCCCTTCA	0.552000														156			14		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23900866	23900866	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23900866G>A	uc001wjx.3	-	7	766	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	220	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTGGATGATCTGGTCCT	0.627000														93			5		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9388636	9388636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:9388636C>T	uc021wam.1	+	17	1699	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	PLCB4_uc010gbw.1_Missense_Mutation_p.H562Y|PLCB4_uc010gbx.3_Missense_Mutation_p.H574Y|PLCB4_uc021wal.1_Missense_Mutation_p.H562Y|PLCB4_uc002wnh.3_Missense_Mutation_p.H409Y	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	562					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						CACTAATATCCATCCATATTT	0.428000														51			12		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045703	42045703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42045703G>A	uc001cgz.4	-	3	5979	c.4766C>T	c.(4765-4767)tCa>tTa	p.S1589L	HIVEP3_uc001cha.4_Missense_Mutation_p.S1589L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1589					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TACCTTCTTTGAGTCCGTACC	0.502000														164			42		0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134059437	134059437	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134059437G>A	uc010quu.1	-	1	440	c.324C>T	c.(322-324)atC>atT	p.I108I	STK32C_uc001lld.1_5'UTR|STK32C_uc001lle.1_Silent_p.I95I|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	95	Protein kinase.						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)		TGGCCCGAAGGATCTGGAAGT	0.627000														54			13		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56882295	56882295	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:56882295G>A	uc003xsk.4	+	9	1275	c.993G>A	c.(991-993)ctG>ctA	p.L331L	LYN_uc003xsl.4_Silent_p.L310L	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	331	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGATTTCCTGAAGAGCGATG	0.403000														86			8		0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091134	26091134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:26091134G>A	uc003nfx.1	+	1	302	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	HFE_uc003nfy.1_Intron|HFE_uc010jqe.1_Missense_Mutation_p.E48K|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.E48K|HFE_uc003ngb.1_Missense_Mutation_p.E48K|HFE_uc003ngc.1_Missense_Mutation_p.E48K|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	48	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTGTTTGAAGCTTTGGG	0.512000									Hemochromatosis					95			5		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140266982	140266982	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:140266982C>T	uc010lnk.3	-	8	2203	c.1683G>A	c.(1681-1683)gaG>gaA	p.E561E	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.E561E|DENND2A_uc003vvw.3_Silent_p.E561E|DENND2A_uc003vvx.3_Silent_p.E561E	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	561										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGAGCTGCCTCTCCTGGTACT	0.587000														27			8		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	619080	619080	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:619080C>T	uc001lql.3	-	12	1746	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	CDHR5_uc001lqj.3_Silent_p.T493T|CDHR5_uc009ycd.3_Silent_p.T487T|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Silent_p.T327T	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	493					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CAGAGCTGGTCGTGGAGGGTC	0.677000														37			10		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131104327	131104327	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:131104327G>A	uc003yta.2	-	24	2692	c.2464C>T	c.(2464-2466)Cta>Tta	p.L822L	ASAP1_uc003ysz.2_Silent_p.L633L|ASAP1_uc011liw.2_Silent_p.L815L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	822	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCTTGGATAGGGTGGAGCTG	0.572000														99			10		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317531	1317531	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1317531C>T	uc004cpk.2	-	4	536	c.534G>A	c.(532-534)gaG>gaA	p.E178E	CRLF2_uc022brt.1_Silent_p.E178E|CRLF2_uc004cpl.2_Silent_p.E66E|CRLF2_uc022brs.1_Silent_p.E178E	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	178	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGTAACACTTCTCGGCATCCA	0.498000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									50			11		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31932086	31932086	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31932086C>T	uc003nyn.1	+	16	2327	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	SKIV2L_uc011dou.1_Silent_p.I488I|SKIV2L_uc011dov.1_Silent_p.I453I	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	646	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCAAGGAGATCGTGGAGATGC	0.617000														259			20		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31736868	31736868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31736868C>T	uc011dog.2	-	9	1668	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	VWA7_uc003nxd.2_Missense_Mutation_p.G152E|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	477						extracellular region											GATCACCTCTCCTCCTGAGGC	0.572000														251			16		0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27499923	27499923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27499923G>A	uc001itr.1	-	8	1111	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	ACBD5_uc010qdm.2_Missense_Mutation_p.R340C|ACBD5_uc010qdn.2_Missense_Mutation_p.R233C|ACBD5_uc010qdo.2_Missense_Mutation_p.R165C|ACBD5_uc010qdp.2_Missense_Mutation_p.R342C|ACBD5_uc001ito.3_Missense_Mutation_p.R307C|ACBD5_uc001itp.3_Missense_Mutation_p.R233C|ACBD5_uc001itq.3_Missense_Mutation_p.R233C			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	351					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.R307C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATATCTTCACGAAATCCAGAA	0.418000														88			20		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931443	116931443	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:116931443C>T	uc011lxl.2	+	2	1608	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.P386P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	536	Pro-rich.				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						GCAAGAAGCCCATTGGATCGG	0.632000														71			13		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123458800	123458800	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123458800C>T	uc003ego.3	-	6	704	c.422_splice	c.e6+1	p.G141_splice	MYLK_uc011bjw.2_Splice_Site_p.G141_splice|MYLK_uc003egp.3_Splice_Site_p.G141_splice|MYLK_uc003egq.3_Splice_Site_p.G141_splice|MYLK_uc003egr.3_Splice_Site_p.G141_splice|MYLK_uc003egs.3_Splice_Site|MYLK_uc010hrs.1_Splice_Site_p.G141_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	141					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGACTTACCCTAAGGTTTT	0.473000														149			21		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507060	18507060	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18507060G>A	uc002niw.3	-	0	1356	c.714C>T	c.(712-714)tcC>tcT	p.S238S	LRRC25_uc002nix.3_Silent_p.S238S	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	238						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						AGTCGGGAGTGGAGGGGCAGG	0.632000														67			14		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483499	12483499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:12483499G>A	uc001rai.1	-	3	1016	c.758C>T	c.(757-759)tCa>tTa	p.S253L	MANSC1_uc010shm.1_Missense_Mutation_p.S187L|MANSC1_uc001raj.1_Missense_Mutation_p.S219L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	253	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGGTGTCACTGAAGCATTGGT	0.567000														45			5		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460056	201460056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:201460056G>A	uc002uvx.3	+	2	266	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	55	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTACAGTGATGATATCACGAT	0.398000														17			7		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324757	9324757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9324757C>T	uc002mla.2	-	0	791	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTCCTGTTCCATAGAACAAG	0.522000														26			4		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8181669	8181669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8181669C>T	uc002mjf.3	-	27	3618	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1201	EGF-like 17.					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						GGGTTCTCTTCACACTCGTCC	0.612000														58			10		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183871708	183871708	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183871708C>T	uc001gqm.3	+	12	1890	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	RGL1_uc010pof.1_Silent_p.L247L|RGL1_uc010pog.2_Silent_p.L440L|RGL1_uc010poh.2_Silent_p.L440L|RGL1_uc001gqo.3_Silent_p.L442L|RGL1_uc010poi.2_Silent_p.L413L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	442	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTAGGGTGGACTGATAAACTT	0.353000														19			8		0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179325827	179325827	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179325827C>T	uc002umi.4	+	6	1241	c.885C>T	c.(883-885)atC>atT	p.I295I	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Silent_p.I295I	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	295					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GGACCCATATCCGAGTTAACT	0.408000														108			6		0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33558919	33558919	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33558919C>T	uc009vug.3	+	3	561	c.489C>T	c.(487-489)tcC>tcT	p.S163S	ADC_uc001bwr.3_Silent_p.S163S|ADC_uc001bws.3_Silent_p.S163S|ADC_uc009vue.3_Silent_p.S163S|ADC_uc001bwt.1_Silent_p.S68S|ADC_uc001bwu.3_Silent_p.S68S|ADC_uc001bwv.3_Silent_p.S68S|ADC_uc001bwx.1_Silent_p.S140S|ADC_uc009vuf.1_Intron|ADC_uc001bwy.1_Silent_p.S12S|ADC_uc001bwz.1_Silent_p.S163S	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	163					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	ACTCCCACTCCCTGAGCTGCC	0.557000														60			11		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739783	152739783	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152739783G>A	uc002tya.3	-	2	317	c.249C>T	c.(247-249)atC>atT	p.I83I	CACNB4_uc002txy.3_Silent_p.I49I|CACNB4_uc002txz.3_Silent_p.I65I|CACNB4_uc010fnz.3_Silent_p.I83I|CACNB4_uc021vre.1_Silent_p.I49I|CACNB4_uc002tyb.2_Silent_p.I49I	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	83					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TCTCAAGCTGGATAGCTGCTT	0.517000														64			9		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885561	63885561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63885561G>A	uc021qks.1	+	0	1822	c.1822G>A	c.(1822-1824)Gat>Aat	p.D608N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D608N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	580					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GACCAAGAAGGATAACTCCAT	0.592000														60			5		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106083983	106083983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106083983G>A	uc004emo.3	+	9	1753	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emn.3_Missense_Mutation_p.E530K	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	530	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTGGCTACTGAAGAAATTGA	0.453000														21			6		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429402	20429402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20429402C>T	uc002dhe.3	+	2	373	c.226C>T	c.(226-228)Cct>Tct	p.P76S	ACSM5_uc002dhd.1_Missense_Mutation_p.P76S	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	76					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	p.P76T(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCCCCCAAATCCTGCCTTCTG	0.493000														26			4		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770135	135770135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:135770135G>A	uc004fab.3	-	10	1663	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	ARHGEF6_uc011mwd.2_Missense_Mutation_p.H274Y|ARHGEF6_uc011mwe.2_Missense_Mutation_p.H247Y	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	401	DH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATATCCTGATGATCTGGATGA	0.378000														13			6		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11333707	11333708	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11333707_11333708CC>TT	uc002mqs.4	-	24	3071_3072	c.3030_3031GG>AA	c.(3028-3033)cggggc>cgAAgc	p.G1011S	DOCK6_uc010xlq.2_Missense_Mutation_p.G350S	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1011					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AAGACAAAGCCCCGGTCCACCA	0.624000														59			5		0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640603	58640603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58640603C>T	uc002qrn.3	-	3	505	c.268G>A	c.(268-270)Ggt>Agt	p.G90S	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.G90S	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCATGGAAACCATTTGTTGCC	0.468000														113			13		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959256	9959256	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9959256G>C	uc003bua.3	+	0	475	c.257G>C	c.(256-258)aGg>aCg	p.R86T	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Intron|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Intron|IL17RC_uc003btz.3_Intron|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Intron|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Intron|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAACGGGGAAGGGGCAAGAGC	0.567000														81			8		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747773	143747773	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143747773C>T	uc011ktw.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92N(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AAACAATCTCCTTTGTCCCAT	0.428000														85			18		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87746591	87746591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:87746591C>T	uc003hqd.2	-	4	1049	c.901G>A	c.(901-903)Gga>Aga	p.G301R		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	301						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ATAAGAAATCCATCTATCAGC	0.443000														37			4		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289032	125289032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125289032G>A	uc004bmn.1	-	0	541	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTCAGGACAGGAGTGATGTCA	0.493000														17			5		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116747754	116747754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116747754C>T	uc011ebg.2	+	2	590	c.491C>T	c.(490-492)cCt>cTt	p.P164L	DSE_uc011ebf.1_Missense_Mutation_p.P145L|DSE_uc003pws.3_Missense_Mutation_p.P145L|DSE_uc003pwt.3_Missense_Mutation_p.P145L	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	145					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAAGATGCTCCTTGGGATGAG	0.433000														62			6		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17478672	17478672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17478672G>A	uc003wxr.3	+	3	911	c.466G>A	c.(466-468)Gac>Aac	p.D156N		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	156	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTGCAGGAAGGACGAGGCCAA	0.527000														29			4		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25175867	25175867	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:25175867G>A	uc003sxn.1	-	9	2058	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	499										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GTTCTAAAGTGAAAGCTTCCG	0.363000														75			26		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100379259	100379259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100379259C>T	uc001dsi.1	+	29	4526	c.4126C>T	c.(4126-4128)Cag>Tag	p.Q1376*	AGL_uc001dsj.1_Nonsense_Mutation_p.Q1376*|AGL_uc001dsk.1_Nonsense_Mutation_p.Q1376*|AGL_uc001dsl.1_Nonsense_Mutation_p.Q1376*|AGL_uc001dsm.1_Nonsense_Mutation_p.Q1360*|AGL_uc001dsn.1_Nonsense_Mutation_p.Q1359*	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1376					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTGTGACTATCAGCTCAGGCC	0.373000														39			4		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545607	234545607	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234545607C>T	uc002vur.3	+	0	485	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.L147L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	150					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGCAGTGTTTCTGGATCCTTT	0.388000														55			9		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37619923	37619923	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37619923C>T	uc003onu.1	-	6	2355	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	MDGA1_uc003onw.3_Non-coding_Transcript	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	392	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGCGGGCAGCTCAGGATCAT	0.602000														73			11		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817461	26817461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26817461C>T	uc010wan.2	+	2	435	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_Intron	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	74						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AGCCATGTCTCCACCTGCCAG	0.602000														133			14		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846137	130846137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130846137G>A	uc001uik.3	+	15	2232	c.1961G>A	c.(1960-1962)gGg>gAg	p.G654E	PIWIL1_uc001uij.2_Missense_Mutation_p.G654E	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	654	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCAATGAAGGGATGACCCGG	0.507000														58			5		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196301	8196301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8196301C>T	uc001qtu.3	+	3	1498	c.413C>T	c.(412-414)tCc>tTc	p.S138F	FOXJ2_uc001qtt.1_Missense_Mutation_p.S138F	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	138					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCCAGGGTTCCTATTGGACA	0.443000														159			18		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970426	118970426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:118970426G>A	uc003ksm.2	+	2	1193	c.983G>A	c.(982-984)aGg>aAg	p.R328K	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.R328K|FAM170A_uc003kso.3_Missense_Mutation_p.R281K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	328						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCAAAGGACAGGAAGTGAGCA	0.557000														29			9		0	0	1	0	0
ZNF642	339559	broad.mit.edu	37	1	40947508	40947508	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40947508C>T	uc010ojk.2	+	2	495	c.201C>T	c.(199-201)ctC>ctT	p.L67L	ZNF642_uc001cfo.3_Silent_p.L67L|ZNF642_uc009vwb.3_Silent_p.L67L	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			CCCCTGGACTCCCGACAGCAG	0.478000														60			4		0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154210	61154210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61154210C>T	uc002liz.4	+	2	342	c.200C>T	c.(199-201)cCc>cTc	p.P67L	SERPINB5_uc002liy.2_Missense_Mutation_p.P67L	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	67					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAAGATGTACCCTTTGGATTT	0.378000														53			8		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687393	27687393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27687393G>A	uc001itu.2	-	3	2252	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	712					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTCTCATTAGGATCTTGGCTG	0.254000														18			5		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46311850	46311850	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46311850C>A	uc002zgd.2	-	9	1330	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	ITGB2_uc002zgf.3_Missense_Mutation_p.R429L|ITGB2_uc011afl.1_Missense_Mutation_p.R351L|ITGB2_uc010gpw.2_Missense_Mutation_p.R372L|ITGB2_uc002zgg.2_Missense_Mutation_p.R429L	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	429					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.R429W(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCAGCGCCCGGATGACAAA	0.637000														26			3		1	1	1	1	0
ADAM18	8749	broad.mit.edu	37	8	39442176	39442176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39442176G>A	uc003xni.3	+	0	90	c.35G>A	c.(34-36)gGa>gAa	p.G12E	ADAM18_uc003xnh.3_Missense_Mutation_p.G12E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G12E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	12					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACTGAGCTTGGAAGACTGCAA	0.572000														43			11		0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988292	45988292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:45988292G>A	uc003cpc.1	+	1	400	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.G107S|CXCR6_uc021www.1_Missense_Mutation_p.G107S	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	107					viral genome replication	integral to plasma membrane	coreceptor activity	p.G107D(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCCTACTGGGCATCTACAC	0.522000														170			24		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985384	240985384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:240985384G>A	uc010zoe.2	-	0	106	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGACAAAGAGGTAGGTGAGC	0.592000														97			10		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535853	90535853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90535853C>T	uc010mqi.3	+	3	1060	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	FAM75C1_uc004apq.4_Missense_Mutation_p.S327L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCCTTTATTTCATCCACACCC	0.567000														195			13		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35742530	35742530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35742530G>A	uc010zvu.2	-	20	2645	c.2554C>T	c.(2554-2556)Cgt>Tgt	p.R852C	C20orf132_uc002xgk.3_Missense_Mutation_p.R484C	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				ACGGAGAAACGATGAACATCA	0.478000														12			3		0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	998080	998080	+	Nonsense_Mutation	SNP	C	T	T	rs121965025		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:998080C>T	uc003gby.3	+	13	1949	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Nonsense_Mutation_p.R643*	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	621					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CTACCGAGTTCGAGCCCTGGA	0.662000														63			9		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21329051	21329051	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21329051C>T	uc002ztj.2	+	7	884	c.666C>T	c.(664-666)atC>atT	p.I222I	LZTR1_uc002ztk.2_Silent_p.I222I|LZTR1_uc002ztl.2_Silent_p.I228I|LZTR1_uc011ahx.1_Silent_p.I210I	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					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)			CCGACCGGATCGTCCTGTGCA	0.652000														80			8		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10703324	10703324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10703324C>T	uc001aro.3	-	18	4233	c.3913G>A	c.(3913-3915)Gag>Aag	p.E1305K		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R1304Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGCAGCCCTCCCGGATGCAG	0.632000														41			7		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958547	78958547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:78958547G>A	uc001din.3	+	1	385	c.119G>A	c.(118-120)gGa>gAa	p.G40E	PTGFR_uc001dim.3_Missense_Mutation_p.G40E	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	40					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATGACAGTGGGAATCTTGTCA	0.468000														98			8		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066295	31066295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31066295C>T	uc002yno.1	-	1	670	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	GRIK1_uc002ynn.3_Missense_Mutation_p.R69Q|GRIK1_uc011acs.2_Missense_Mutation_p.R69Q|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.R69Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	69					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCAGGGTTCGGTTTCTGTT	0.398000														17			3		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510690	38510690	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38510690C>T	uc010ive.1	-	6	1199	c.867G>A	c.(865-867)ttG>ttA	p.L289L	LIFR_uc003jli.2_Silent_p.L289L	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	289					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.L289S(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAAGATGGATCAAGGGGCAGT	0.363000			T	PLAG1	salivary adenoma									25			6		0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46748384	46748384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46748384C>T	uc001ndf.4	+	8	1170	c.1127C>T	c.(1126-1128)cCt>cTt	p.P376L		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	376	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGCATGTCACCTTGGTGTGTC	0.612000														108			7		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35759750	35759750	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35759750G>A	uc003jjo.3	+	24	3660	c.3549G>A	c.(3547-3549)gaG>gaA	p.E1183E	SPEF2_uc003jjp.1_Silent_p.E669E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1183					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCAGTAGAGGACAACAAGA	0.393000														70			5		0	0	1	0	0
RPL27A	6157	broad.mit.edu	37	11	8706416	8706416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:8706416C>T	uc001mgs.4	+	3	661	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	SNORA45_uc001mgr.1_5'Flank	NM_000990	NP_000981	P46776	RL27A_HUMAN	Homo sapiens ribosomal protein L27a (RPL27A), mRNA.	99					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGGCTGCTCCCATCATTGA	0.433000														96			22		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631087	6631087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6631087G>A	uc001ant.3	+	1	406	c.310G>A	c.(310-312)Gat>Aat	p.D104N	TAS1R1_uc001anu.3_Missense_Mutation_p.D104N|TAS1R1_uc021ofp.1_Missense_Mutation_p.D26N	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	104					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGCTGTATGATGTGTGTTC	0.557000														152			20		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892612	17892612	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17892612C>T	uc002nhg.3	+	22	2199	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	FCHO1_uc010ebb.2_Silent_p.F640F|FCHO1_uc002nhh.2_Silent_p.F640F|FCHO1_uc010xpw.1_Silent_p.F590F	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	640										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ACGCCTACTTCCGTGGCCACA	0.637000														79			20		0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47101462	47101462	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47101462G>A	uc001cqh.3	-	8	1078	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	ATPAF1_uc021onc.1_Nonsense_Mutation_p.Q119*|ATPAF1_uc009vyk.3_Nonsense_Mutation_p.Q174*|ATPAF1_uc010omg.2_Nonsense_Mutation_p.Q237*|ATPAF1_uc001cqi.3_Nonsense_Mutation_p.Q257*	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GTCTTATTTTGGTTCTGGGCA	0.483000														69			23		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112029764	112029764	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:112029764C>T	uc004bdz.1	-	3	817	c.522G>A	c.(520-522)gaG>gaA	p.E174E	EPB41L4B_uc004bea.3_Silent_p.E174E	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	174	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGTAAACTCCTCACGAAGGT	0.443000														44			6		0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74771114	74771114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74771114C>T	uc002jta.2	+	11	1883	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	MFSD11_uc002jtd.4_Missense_Mutation_p.R304C|MFSD11_uc002jtb.3_Missense_Mutation_p.R304C|MFSD11_uc002jtc.3_Missense_Mutation_p.R304C|MFSD11_uc002jte.3_Missense_Mutation_p.R304C|MFSD11_uc010dhb.3_Missense_Mutation_p.R252C|MFSD11_uc010dha.3_Missense_Mutation_p.R252C	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	304						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAAGAACAATCGTTTTGGTAG	0.468000														149			38		0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152760053	152760053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152760053C>T	uc021ozg.1	+	0	278	c.278C>T	c.(277-279)tCt>tTt	p.S93F	LCE1E_uc001fan.3_Missense_Mutation_p.S93F	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	93	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCAGAGCTCTGACTGCTGC	0.667000														97			9		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581439	7581439	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7581439G>A	uc003mxp.1	+	22	5295	c.5016G>A	c.(5014-5016)caG>caA	p.Q1672Q	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1672	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAGGAACAGGAAAGTGTCA	0.493000														85			4		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342805	47342805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47342805G>A	uc003tnw.3	-	21	3558	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	TNS3_uc022acn.1_Missense_Mutation_p.S624F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1067						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AAAGTTGTGGGACAGGAAGCC	0.672000														33			5		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350368	51350368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51350368G>A	uc001zyy.3	-	2	689	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	197										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGCTTCTTCCGGAACTTCTCC	0.478000														70			8		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822587	16822587	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:16822587C>T	uc010rcu.1	-	16	2358	c.2343G>A	c.(2341-2343)ttG>ttA	p.L781L	PLEKHA7_uc001mmo.3_Silent_p.L781L|PLEKHA7_uc010rcv.2_Silent_p.L355L|PLEKHA7_uc001mmn.3_Silent_p.L489L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	781					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CATCATTCTCCAACTTCAGGT	0.498000														108			17		0	0	1	0	0
RAB15	376267	broad.mit.edu	37	14	65417870	65417870	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65417870C>A	uc021rut.1	-	4	328	c.247_splice	c.e4-1	p.G83_splice	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Splice_Site_p.G83_splice|RAB15_uc021rur.1_Splice_Site|RAB15_uc021rus.1_Splice_Site			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		AAAATATCCCCTGAGAGAGAG	0.517000														53			4		1	1	1	1	0
EPHA6	285220	broad.mit.edu	37	3	96706185	96706185	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:96706185C>T	uc010how.1	+	2	505	c.462C>T	c.(460-462)atC>atT	p.I154I	EPHA6_uc003drp.1_Silent_p.I154I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	59	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGGATGCCATCACTGAAATGG	0.348000														34			5		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187531066	187531066	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187531066G>A	uc003izf.3	-	14	10145	c.9957C>T	c.(9955-9957)gcC>gcT	p.A3319A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3319	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTTCACAGTGGCAACGTCGC	0.458000										HNSCC(5;0.00058)				28			5		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831424	131831424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131831424G>A	uc003vra.4	-	27	5129	c.4900C>T	c.(4900-4902)Ctc>Ttc	p.L1634F	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1634						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						CGTGAGCGGAGGCTGTCGGGG	0.577000														136			32		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008417	34008417	+	Silent	SNP	G	A	A	rs138523089	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34008417G>A	uc001bxm.1	-	57	9357	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I	CSMD2_uc001bxn.1_Silent_p.I2916I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3034	Sushi 23.					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)				ACTCATAGACGATAGAGCTGG	0.542000														54			4		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38948800	38948800	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:38948800G>A	uc003tgy.3	-	1	1	c.-25_splice	c.e1-1		VPS41_uc003tgz.3_Splice_Site|VPS41_uc010kxn.3_Splice_Site	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.						Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCACCTGACAGACCCGGAAAT	0.557000														96			10		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890033	139890033	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139890033G>A	uc003yvd.3	-	2	1065	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	206	VWFA.				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)			GGATCTTGTCGATGGCATTGA	0.662000										HNSCC(7;0.00092)				43			11		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881854	38881854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38881854G>A	uc003jln.2	+	3	808	c.406G>A	c.(406-408)Gag>Aag	p.E136K	OSMR_uc003jlm.2_Missense_Mutation_p.E136K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	136					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.E136D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAGTTCCTGGGAGGAAGTCAG	0.423000														40			10		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202568430	202568430	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202568430C>T	uc001gye.3	-	7	1162	c.969G>A	c.(967-969)aaG>aaA	p.K323K	SYT2_uc010pqb.2_Silent_p.K323K|SYT2_uc009xaf.3_Silent_p.K153K	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	323	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTGTCTTCTTCTTCTTGAGCC	0.552000														119			11		0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973950	117973950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117973950G>A	uc021qrd.1	+	3	583	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.E98K|TMPRSS4_uc010rxo.2_Missense_Mutation_p.E96K|TMPRSS4_uc010rxs.2_Missense_Mutation_p.E58K|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.E73K|TMPRSS4_uc010rxt.2_Missense_Mutation_p.E73K	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	98	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GAGCTTCCCCGAAGGGCCTGC	0.632000														95			13		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339201	19339201	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19339201G>A	uc002nlz.3	+	7	2871	c.2772G>A	c.(2770-2772)ggG>ggA	p.G924G	NCAN_uc010ecc.1_Silent_p.G488G	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	924					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GTCCCCTAGGGAAACCGGCTG	0.632000														91			22		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12368588	12368588	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12368588G>A	uc001atv.3	+	26	6681	c.6540G>A	c.(6538-6540)gaG>gaA	p.E2180E	VPS13D_uc001atw.3_Silent_p.E2180E|VPS13D_uc001atx.3_Silent_p.E1368E|VPS13D_uc001aty.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2180					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGCACCAGAGGATAGTAGTG	0.502000														120			34		0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42273443	42273443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42273443G>A	uc002iga.3	-	5	573	c.482C>T	c.(481-483)cCc>cTc	p.P161L	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.P168L	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	161					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGGGGAATTGGGGTTCTGGAA	0.483000														93			9		0	0	1	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389223	39389223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39389223C>T	uc021txg.1	+	0	509	c.470C>T	c.(469-471)tCt>tTt	p.S157F		NM_031962	NP_114168	Q9BYQ3	KRA93_HUMAN	Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA.	157	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCTTCTTGCTGCTAA	0.532000														158			30		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015479	93015479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:93015479C>T	uc002brc.1	+	0	573	c.101C>T	c.(100-102)aCt>aTt	p.T34I	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	34										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AACACCAAGACTTCCCCAAGA	0.537000														87			6		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785236	1785236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1785236C>T	uc002ltw.3	-	26	3688	c.3454G>A	c.(3454-3456)Ggt>Agt	p.G1152S	ATP8B3_uc002ltv.3_Missense_Mutation_p.G1115S|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1152					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTAGAAACCAAGGCTGAGG	0.592000														9			8		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791010	51791010	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51791010G>A	uc010ufy.2	-	17	4636	c.4411C>T	c.(4411-4413)Ctg>Ttg	p.L1471L	DMXL2_uc002abf.3_Silent_p.L1471L|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1471						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTGAAACAGCTCTGAATAC	0.358000														84			6		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390428	208390428	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:208390428G>A	uc001hgz.3	-	1	1598	c.840C>T	c.(838-840)atC>atT	p.I280I	PLXNA2_uc001hha.4_Silent_p.I334I	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	280	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGAGCCGCACGATGCGTGAGG	0.612000														63			27		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106471463	106471463	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106471463C>T	uc021ser.1	-	2492		c.43527G>A								Parts of antibodies, mostly variable regions.																		GAAGGTGTATCCAGAAGCCTT	0.557000														81			13		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41745271	41745271	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:41745271C>T	uc003azw.3	+	15	2130	c.1914C>T	c.(1912-1914)atC>atT	p.I638I		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	654					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.F637F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACAGCTTCATCGAGCTCAAGG	0.652000														84			17		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52601914	52601914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:52601914G>A	uc002xws.2	-	6	1390	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	BCAS1_uc010zza.1_Missense_Mutation_p.S109F|BCAS1_uc010zzb.1_Missense_Mutation_p.S299F|BCAS1_uc010gim.2_Missense_Mutation_p.S299F|BCAS1_uc002xwt.2_Missense_Mutation_p.S351F|BCAS1_uc010gil.1_Missense_Mutation_p.S351F	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	351						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGTTGTCACGGACTGTGTGTG	0.517000														34			5		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17581265	17581265	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17581265A>T	uc003wxv.3	-	3	2839	c.2365T>A	c.(2365-2367)Ttg>Atg	p.L789M	MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Missense_Mutation_p.L789M	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	789						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGACTTTTCAAAGATGCTTTG	0.453000														46			5		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19346936	19346936	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19346936G>A	uc002zpf.1	-	17	2377	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	HIRA_uc011agx.1_Silent_p.S585S|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Silent_p.S675S|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	719	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACTTCAGGCGGCTCAGCTTCA	0.592000														42			8		0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812888	131812888	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:131812888G>A	uc002tsd.3	-	4	661	c.432C>T	c.(430-432)gtC>gtT	p.V144V		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	144								p.G143W(1)		endometrium(3)|lung(2)	5						TGCCCATGGTGACCCCGTTGC	0.632000														128			8		0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144919435	144919435	+	Silent	SNP	G	A	A	rs138709296		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144919435G>A	uc011lkt.2	-	12	1253	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	NRBP2_uc003yzw.3_Silent_p.F163F|NRBP2_uc010mfl.3_Silent_p.F163F|NRBP2_uc010mfm.3_Silent_p.F128F|NRBP2_uc011lks.2_Silent_p.F128F|NRBP2_uc003yzy.3_Silent_p.F128F|NRBP2_uc003yzv.3_Silent_p.F128F|NRBP2_uc003yzz.1_5'Flank	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	Homo sapiens nuclear receptor binding protein 2 (NRBP2), mRNA.	371					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CATCCTCCAGGAATTTGTCCA	0.612000														32			9		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72638964	72638964	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72638964A>T	uc002aun.4	-	10	1441	c.1234T>A	c.(1234-1236)Ttc>Atc	p.F412I	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.F423I|HEXA_uc010bix.3_Missense_Mutation_p.F412I|HEXA_uc010biy.2_Missense_Mutation_p.F275I|HEXA_uc010uko.1_Missense_Mutation_p.F238I	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	412					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	p.F412F(1)|p.G411S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGGGCCCGGAAGCCGGCCTTG	0.507000														275			14		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904392	73904392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:73904392C>T	uc011dyh.2	+	14	2458	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	KCNQ5_uc011dyi.2_Missense_Mutation_p.S695L|KCNQ5_uc010kat.3_Missense_Mutation_p.S676L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S685L|KCNQ5_uc011dyj.2_Missense_Mutation_p.S575L|KCNQ5_uc011dyk.2_Missense_Mutation_p.S435L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	685					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCAACATCTCGAGAGGCCTG	0.488000														78			8		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98893493	98893493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:98893493G>A	uc003htt.2	-	6	961	c.871C>T	c.(871-873)Cct>Tct	p.P291S		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	291										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AAAGTCCGAGGAACAGAAGAA	0.358000														41			4		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762143	101762143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:101762143C>T	uc001pgl.3	-	8	1630	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	345	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTGATGAATGCCATTTAGATT	0.448000														49			4		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904536	88904536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:88904536C>T	uc001xwq.3	+	11	1991	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y	SPATA7_uc001xwr.3_Missense_Mutation_p.H492Y|SPATA7_uc001xws.3_Missense_Mutation_p.H460Y|SPATA7_uc001xwt.3_Missense_Mutation_p.H418Y|SPATA7_uc001xwu.3_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	524					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GGATGAAAATCATCCAAGTAT	0.333000														19			6		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631986	205631987	+	Missense_Mutation	DNP	GG	AA	AA	rs146644393	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205631986_205631987GG>AA	uc001hda.1	-	2	1271_1272	c.932_933CC>TT	c.(931-933)acc>aTT	p.T311I	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.T145I|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	311					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)			TCCGGGCCTCGGTGCCCGGCTC	0.639000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									66			11		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476228	13476228	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13476228G>A	uc002mwy.3	-	4	923	c.687C>T	c.(685-687)atC>atT	p.I229I	CACNA1A_uc010xnd.2_Silent_p.I229I|CACNA1A_uc021ups.1_Silent_p.I229I|CACNA1A_uc010xne.2_Silent_p.I229I|CACNA1A_uc010dze.2_Silent_p.I229I|CACNA1A_uc021upt.1_Silent_p.I229I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	229					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGGAGGCCGATCTGCAGCA	0.458000														46			8		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255716	15255716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:15255716C>T	uc001iob.3	-	7	1878	c.1871G>A	c.(1870-1872)gGg>gAg	p.G624E		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	624						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGGAAGATCCCGGCATGGGG	0.637000														65			28		0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32873263	32873263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:32873263G>A	uc002xai.3	-	8	1289	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	AHCY_uc002xaj.3_Missense_Mutation_p.H356Y	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	384					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGCAGGAAATGAACCCCAACG	0.537000														59			11		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037337	220037337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220037337G>A	uc002vju.4	-	7	1356	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Missense_Mutation_p.R402C	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	402					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GACTTGAGGCGAGCCAGCTCC	0.542000														90			13		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44248039	44248039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44248039C>T	uc003oxi.2	-	4	1541	c.1385G>A	c.(1384-1386)aGc>aAc	p.S462N	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.	462								p.S462S(1)		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)			GAGGTACTCGCTTTCCTGGGC	0.587000														98			6		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533582	55533582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:55533582G>A	uc003xsd.1	+	1	204	c.56G>A	c.(55-57)gGt>gAt	p.G19D	RP1_uc011ldy.1_Missense_Mutation_p.G19D	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	19					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	p.G19S(1)		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)			TCTTCTGAAGGTCAAGTTCCA	0.488000														79			9		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201931	135201931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135201931G>A	uc004cbk.3	-	9	5237	c.5054C>T	c.(5053-5055)tCc>tTc	p.S1685F	SETX_uc004cbj.3_Missense_Mutation_p.S1304F|SETX_uc010mzt.3_Missense_Mutation_p.S1304F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1685					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TACTGGAGAGGAAGATGGAAA	0.373000														44			5		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424577	91424577	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91424577C>T	uc002bpu.1	+	15	2070	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	618	Cys-rich.				Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.G617W(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCCAGGGTTCGCCCCCCAAG	0.632000														286			134		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	371267	371267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:371267G>A	uc002lol.3	-	5	734	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	THEG_uc002lom.3_Missense_Mutation_p.R207C	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	231					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTCAGGCGACTCGACGCT	0.652000														169			21		0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926360	172926360	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:172926360T>A	uc002uhk.3	+	1	248	c.175T>A	c.(175-177)Tct>Act	p.S59T	METAP1D_uc010zdw.2_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	59					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GGCTGCAGTTTCTTCAGCTCA	0.383000														210			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711950	140711950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140711950C>T	uc003lji.2	+	0	1699	c.1699C>T	c.(1699-1701)Ctc>Ttc	p.L567F	PCDHGC5_uc011dan.2_Missense_Mutation_p.L567F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	569					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)			GTACCCCGCCCTCCCCACAGA	0.672000														105			17		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353213	121353213	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121353213C>T	uc003eeh.4	-	9	869	c.744G>A	c.(742-744)gaG>gaA	p.E248E	HCLS1_uc011bjj.2_Silent_p.E211E|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	248					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCTTCCTCTTCTCCTCAGCCA	0.552000														50			7		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102038463	102038463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:102038463C>T	uc001tii.3	+	9	919	c.779C>T	c.(778-780)cCt>cTt	p.P260L	MYBPC1_uc001tif.2_Missense_Mutation_p.P273L|MYBPC1_uc001tig.3_Missense_Mutation_p.P285L|MYBPC1_uc010svr.2_Missense_Mutation_p.P260L|MYBPC1_uc010svs.2_Missense_Mutation_p.P260L|MYBPC1_uc001tij.3_Missense_Mutation_p.P260L|MYBPC1_uc010svt.2_Missense_Mutation_p.P248L|MYBPC1_uc010svu.2_Missense_Mutation_p.P241L|MYBPC1_uc001tik.3_Missense_Mutation_p.P234L|MYBPC1_uc001tih.3_Missense_Mutation_p.P285L|MYBPC1_uc010svq.2_Missense_Mutation_p.P247L	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	260	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTCTTGATCCTGCATATCAG	0.348000														25			3		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886309	55886309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:55886309G>A	uc010spo.2	+	0	163	c.163G>A	c.(163-165)Gat>Aat	p.D55N		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CACCATGTTGGATCCCCACCT	0.383000														61			7		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	58004349	58004349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:58004349C>T	uc002aem.3	+	12	1603	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Missense_Mutation_p.S78F|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Missense_Mutation_p.S309F|GCOM1_uc002aeu.4_Missense_Mutation_p.S152F	NM_001018090	NP_001018100	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA.	376					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ATAGAAGAATCCTTGGCACTT	0.453000														67			7		0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499966	59499966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59499966G>A	uc002agb.3	+	0	925	c.827G>A	c.(826-828)tGg>tAg	p.W276*	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	276					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CCTGAGCAATGGAAAAATGTC	0.423000														29			7		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83451680	83451680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:83451680C>T	uc002bjd.2	-	3	1000	c.833G>A	c.(832-834)gGg>gAg	p.G278E	FSD2_uc010uol.1_Missense_Mutation_p.G278E|FSD2_uc010uom.1_Missense_Mutation_p.G278E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	278										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTTTTCTCCCCTAGAGCTTG	0.383000														169			19		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108719109	108719109	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:108719109C>T	uc022cch.1	-	0	142	c.57G>A	c.(55-57)agG>agA	p.R19R	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.R19R	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	19					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAGCAGTTTCCTGAAAGCCG	0.557000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			5		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33567246	33567246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33567246G>A	uc002xbi.2	+	5	588	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	MYH7B_uc010gfa.1_Missense_Mutation_p.V49I	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	49	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGGCCGAGGTCAAGTCGGA	0.607000														29			6		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762725	176762725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176762725C>T	uc001gkz.3	+	19	6214	c.5050C>T	c.(5050-5052)Ccc>Tcc	p.P1684S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1684	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P1684P(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						GTGTGTAATCCCCCCCAGTGA	0.468000														43			7		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118209930	118209930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118209930G>A	uc001pss.1	-	4	600	c.463C>T	c.(463-465)Cga>Tga	p.R155*	CD3D_uc001pst.1_Nonsense_Mutation_p.R111*|CD3D_uc021qrf.1_Nonsense_Mutation_p.R82*	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	155	ITAM.				T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity	p.R155*(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GCATCATCTCGATCTCGGAGG	0.542000														63			9		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203591054	203591054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203591054C>T	uc010zhx.2	+	3	938	c.928C>T	c.(928-930)Cat>Tat	p.H310Y		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	310								p.H310Y(1)|p.H66Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GTCTCCATTTCATGGCAACCA	0.388000														199			19		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263533	248263533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248263533C>T	uc001ids.3	+	2	1193	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	OR2L13_uc021pmc.1_Missense_Mutation_p.P286S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P286S(3)|p.P286P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CATGCTCAATCCCATTATCTA	0.488000														38			5		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103900141	103900141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:103900141C>T	uc001kum.3	+	4	1915	c.1876C>T	c.(1876-1878)Ccg>Tcg	p.P626S	PPRC1_uc001kun.3_Missense_Mutation_p.P506S|PPRC1_uc010qqj.2_Missense_Mutation_p.P626S|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGAGCCTCTCCCGGCTGAGCC	0.562000														55			10		0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3524632	3524632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3524632G>A	uc002fvz.1	-	4	825	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	241					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CCACATGTGGGAAGTTCTGCC	0.567000														62			7		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629874	47629874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:47629874C>T	uc001rpq.3	+	1	1553	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	FAM113B_uc001rpn.3_Missense_Mutation_p.S343F|FAM113B_uc021qxi.1_Missense_Mutation_p.S343F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	343	Pro-rich.						hydrolase activity	p.S343F(2)		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)					GCCTGTTTTTCCTCAGACCAT	0.542000														139			24		0	0	1	0	0
MDS2	259283	broad.mit.edu	37	1	23908127	23908127	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23908127C>T	uc001bhi.3	+	0		c.143C>T								Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						aaactgggttcctctaagccc	0.557000			T	ETV6	MDS									16			4		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202163309	202163309	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202163309G>A	uc001gxu.3	+	0	192	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	64	LRRNT.					integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CGGGGGACCTGGACCCCCTGA	0.726000														42			7		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357214	89357215	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89357214_89357215GG>AA	uc002fmx.1	-	5	880_881	c.419_420CC>TT	c.(418-420)ccc>cTT	p.P140L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P140L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P140L|ANKRD11_uc002fnd.3_Missense_Mutation_p.P106L|ANKRD11_uc002fne.3_Missense_Mutation_p.P106L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P97L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	140						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)		TAGACTGGGAGGGGTGCTTTGG	0.554000														85			8		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90340826	90340826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90340826C>T	uc002bop.4	-	14	2429	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	713	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCATAGACCTCGGAGCGGTCA	0.527000														118			11		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594866	64594866	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64594866C>A	uc001obs.4	-	32	4155	c.4155G>T	c.(4153-4155)aaG>aaT	p.K1385N		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1385					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGAACTCGTCCTTCTCTGTGG	0.637000														113			17		1.96292e-10	1.99102e-10	1	1	0
NAV2	89797	broad.mit.edu	37	11	20113831	20113831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:20113831C>T	uc010rdm.2	+	29	6261	c.5900C>T	c.(5899-5901)tCc>tTc	p.S1967F	NAV2_uc001mpp.3_Missense_Mutation_p.S1847F|NAV2_uc001mpr.4_Missense_Mutation_p.S1911F|NAV2_uc021qew.1_Missense_Mutation_p.S1914F|NAV2_uc009yhx.3_Missense_Mutation_p.S975F|NAV2_uc009yhz.3_Missense_Mutation_p.S556F|NAV2_uc001mpu.3_Missense_Mutation_p.S349F	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1970						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGGCTCCTTCCCAAGTGTCC	0.562000														80			8		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408377	47408377	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47408377G>A	uc003tnw.3	-	16	2224	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	TNS3_uc022acn.1_Silent_p.L179L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	622						focal adhesion	protein binding	p.L622L(2)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGCCTGGACGAGGCCAGGAT	0.667000														83			6		0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4820812	4820812	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4820812C>T	uc003sne.3	+	1	133	c.48C>T	c.(46-48)atC>atT	p.I16I	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	16					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										TTAGGGAGATCCAGGACGAGG	0.542000														75			9		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486211	128486211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128486211G>A	uc003vnz.4	+	21	4167	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K	FLNC_uc003voa.4_Missense_Mutation_p.E1320K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1320					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						CACCGCCTACGAGGAGGGTGA	0.662000														30			12		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032628	46032628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46032628G>A	uc002zfo.1	+	0	633	c.611G>A	c.(610-612)aGa>aAa	p.R204K	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	204	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						TCCTGCTGCAGACCCTCCTCC	0.662000														127			13		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220172257	220172257	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220172257C>T	uc002vkz.3	-	2	430	c.189G>A	c.(187-189)caG>caA	p.Q63Q	PTPRN_uc010zlc.2_5'UTR|PTPRN_uc002vla.3_Silent_p.Q63Q	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	63					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCACTCCCACCTGGCACTGCC	0.552000														73			20		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154397107	154397107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154397107G>A	uc010jih.1	+	0	3848	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1230	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCCCTATCGAAGAAGAGGC	0.483000														14			3		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55826002	55826002	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:55826002G>A	uc002rzc.3	-	3	1163	c.471C>T	c.(469-471)atC>atT	p.I157I	SMEK2_uc002rzb.3_Silent_p.I157I|SMEK2_uc002rzd.3_Silent_p.I157I|SMEK2_uc002rza.3_Silent_p.I33I	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	157						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTCCCTACGGATAGGTGAGG	0.433000														113			8		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702595	120702595	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:120702595C>T	uc001pxn.2	+	6	833	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GRIK4_uc009zav.1_Silent_p.F182F|GRIK4_uc009zaw.1_Silent_p.F182F|GRIK4_uc009zax.1_Silent_p.F182F	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	182					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCGGCAATTCCTTATCTCCA	0.602000														58			5		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25019871	25019871	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25019871G>A	uc003aan.1	+	10	1495	c.1008G>A	c.(1006-1008)gtG>gtA	p.V336V	GGT1_uc003aas.1_Silent_p.V336V|GGT1_uc003aat.1_Silent_p.V336V|GGT1_uc003aau.2_Silent_p.V336V|GGT1_uc003aav.2_Silent_p.V336V|GGT1_uc003aaw.2_Silent_p.V336V|GGT1_uc003aax.2_Silent_p.V336V	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	336					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCAAGTTTGTGGATGTGACTG	0.627000														21			3		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043183	34043183	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:34043183G>A	uc003jio.3	-	0	189	c.48C>T	c.(46-48)ttC>ttT	p.F16F	C1QTNF3_uc003jin.3_Silent_p.F16F	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	0						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					AAAAAGGGAGGAAAAACAAAG	0.493000														40			6		0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74719996	74719996	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74719996G>A	uc002jso.3	-	2	987	c.663C>T	c.(661-663)acC>acT	p.T221T	JMJD6_uc002jsn.1_Silent_p.T221T|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	221	JmjC.				RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTTCGTCTCGGGTCACTTTGA	0.537000														97			34		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104628	26104628	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26104628C>T	uc001bkm.2	+	8	1620	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	MAN1C1_uc009vry.1_Silent_p.P250P	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	430					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)		ATGTCTCTCCCGGGGGGCTGA	0.642000														56			10		0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14526751	14526751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:14526751G>A	uc001mll.3	-	10	1142	c.797C>T	c.(796-798)cCa>cTa	p.P266L	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.P260L	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	260					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|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|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ATGTTCCATTGGTTCATCAGC	0.338000														109			7		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68192669	68192669	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68192669C>G	uc001ont.3	+	14	3411	c.3336C>G	c.(3334-3336)atC>atG	p.I1112M	LRP5_uc009ysg.3_Missense_Mutation_p.I522M	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1112	Beta-propeller 4.				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						CCGGCCTCATCCGCCCTGTGG	0.642000														40			3		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128327391	128327391	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128327391G>A	uc002top.3	+	5	551	c.498G>A	c.(496-498)gaG>gaA	p.E166E		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	166	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAAGACGGAGACCACCAAGC	0.557000														21			3		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58112433	58112433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58112433C>T	uc003djj.2	+	23	4331	c.4166C>T	c.(4165-4167)cCt>cTt	p.P1389L	FLNB_uc010hne.2_Missense_Mutation_p.P1389L|FLNB_uc003djk.2_Missense_Mutation_p.P1389L|FLNB_uc010hnf.2_Missense_Mutation_p.P1389L|FLNB_uc003djl.2_Missense_Mutation_p.P1220L|FLNB_uc003djm.2_Missense_Mutation_p.P1220L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1389	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTACATTCCTTTCGCACCG	0.488000														75			6		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404725	1404725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1404725C>T	uc010nct.2	+	4	453	c.131C>T	c.(130-132)aCg>aTg	p.T44M	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T44M|CSF2RA_uc004cpq.2_Missense_Mutation_p.T44M|CSF2RA_uc004cpn.2_Missense_Mutation_p.T44M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T44M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Missense_Mutation_p.T44M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T44M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T44M	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	44						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACTCCAGGACGATGAATTTA	0.478000														178			11		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724187	142724187	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142724187G>A	uc003wcc.1	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	11					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)					CTAGAAGGTGGAATTCAGTGG	0.428000														39			4		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760937	62760937	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62760937C>T	uc009yon.3	-	9	1609	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.L373L|SLC22A8_uc001nwo.3_Silent_p.L496L|SLC22A8_uc010rmm.2_Silent_p.L405L|SLC22A8_uc001nwp.2_Silent_p.L496L	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	496					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGGGCTGATTCAGGGTCTCAG	0.592000														88			17		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458518	142458518	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142458518C>T	uc003wak.2	+	1	170	c.153C>T	c.(151-153)tcC>tcT	p.S51S	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_Missense_Mutation_p.P27S|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	51	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)			GTGGTGGCTCCCTCATCAACG	0.562000														53			10		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1481878	1481879	+	Missense_Mutation	DNP	GG	AA	AA	rs139735568		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1481878_1481879GG>AA	uc003skj.4	-	6	1807_1808	c.1660_1661CC>TT	c.(1660-1662)ccg>TTg	p.P554L	MICALL2_uc003ski.4_Missense_Mutation_p.P41L	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	554						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTCTGGCTTCGGCCTGGAGCCA	0.678000														124			10		0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99517446	99517446	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99517446C>T	uc001kol.2	+	11	1343	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	ZFYVE27_uc010qpc.2_Non-coding_Transcript|ZFYVE27_uc001kom.2_Silent_p.S372S|ZFYVE27_uc010qpb.2_Silent_p.S279S|ZFYVE27_uc010qpd.2_Silent_p.S340S|ZFYVE27_uc001koq.3_Silent_p.S286S|ZFYVE27_uc010qpa.2_Silent_p.S254S|ZFYVE27_uc021pwq.1_Silent_p.S384S	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 2, mRNA.	379					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GATGCTGCTCCTTCAAGGTGC	0.597000														101			24		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1068724	1068724	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1068724G>A	uc002lqz.1	+	1	633	c.402G>A	c.(400-402)aaG>aaA	p.K134K	HMHA1_uc010xgd.1_Silent_p.K150K|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	134					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACTTAAGGAGTGTGTGT	0.662000														45			6		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7570920	7570920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7570920G>A	uc002mgm.2	+	6	1217	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	C19orf45_uc010xjo.1_Missense_Mutation_p.G31E	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	359										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GTGACCCTAGGGGAGCCAAAG	0.582000														56			10		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590869	31590869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31590869C>T	uc002rnv.1	-	19	2234	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	719					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCTTTAGGTCCCCTTTCTCG	0.458000														122			6		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25049707	25049707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:25049707G>A	uc001upl.3	-	14	1923	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	PARP4_uc010tdc.2_Missense_Mutation_p.S606F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	606					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTGCTGCTGGAAGTTTTGGC	0.438000														54			12		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25014024	25014024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25014024C>T	uc003grf.2	-	6	852	c.753G>A	c.(751-753)atG>atA	p.M251I		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	251						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGCAGTTCTCCATGCTGGGCT	0.473000														49			5		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143186016	143186016	+	Silent	SNP	G	A	A	rs141105678		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:143186016G>A	uc003evn.3	-	11	1541	c.1332C>T	c.(1330-1332)atC>atT	p.I444I		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	444					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGCAAATGCGATCGCTCCTC	0.428000														15			4		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47776086	47776086	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:47776086G>A	uc009ylv.3	-	2	597	c.444C>T	c.(442-444)ttC>ttT	p.F148F	FNBP4_uc001ngj.3_Silent_p.F55F|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	148										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TAACCGCTAGGAAGTTGGCCA	0.418000														44			4		0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512546	68512546	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:68512546G>A	uc021ooq.1	-	0	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Silent_p.F145F	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	145					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCACGATGGGGAACTTATGCA	0.527000														113			36		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595819	140595819	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595819C>T	uc003lja.1	+	0	2311	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	708					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F708F(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.677000														162			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045903	9045903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9045903C>T	uc002mkp.3	-	4	35932	c.35728G>A	c.(35728-35730)Gat>Aat	p.D11910N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11912	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						TGGGGCTTATCAGTTGTTATA	0.507000														57			13		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325007	150325007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150325007C>T	uc022apv.1	-	2	1369	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	GIMAP6_uc003whn.3_Missense_Mutation_p.E227K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	227							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAATCTCCTTCGTTTTCCCAC	0.512000														102			9		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671939	49671939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49671939C>T	uc002pmw.3	+	5	850	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	TRPM4_uc010emu.3_Missense_Mutation_p.R248C|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.R74C|TRPM4_uc010emv.3_Missense_Mutation_p.R133C|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	248					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)		GGGCGAGAACCGCTTCCGCTT	0.642000														15			4		0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172485	78172485	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:78172485G>A	uc003pil.1	-	0	636	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	212					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CACCCACCGTGGAGTAGACCG	0.587000														24			8		0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861746	94861746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:94861746C>T	uc001pfh.3	+	1	624	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	169						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ATGACTCAGTCCTTCCAGGAA	0.502000														36			7		0	0	1	0	0
KLC1	3831	broad.mit.edu	37	14	104040507	104040507	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:104040507G>A	uc010tyd.1	+	3	425	c.385_splice	c.e3+1	p.G129_splice	KLC1_uc010tyc.2_Splice_Site_p.G142_splice	NM_005552	NP_005543	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 1, mRNA.	88					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AACTGAATCAGGTTAGTGTGT	0.373000														65			11		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17191061	17191061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:17191061C>T	uc011aby.1	+	9	1193	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	USP25_uc002yjz.1_Nonsense_Mutation_p.Q326*|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Nonsense_Mutation_p.Q326*	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	326					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GTACCCACTTCAGGTCAATGG	0.363000														22			6		0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20870930	20870930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:20870930G>A	uc002rdz.1	+	1	1674	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	366					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGACGACTGGATCATCGCGC	0.692000														27			8		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142942	31142942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31142942G>A	uc003tca.2	+	13	1427	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E408K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E407K|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.E359K|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E408K|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.E138K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	380					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGCAAAAGGGAAAGACTCGT	0.587000														109			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38781841	38781841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38781841G>A	uc021yzh.1	+	24	3378	c.3269G>A	c.(3268-3270)cGa>cAa	p.R1090Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R873Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.E1089Q(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTATGGGCGAAAGCAGTCA	0.313000														40			4		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42750534	42750534	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42750534G>A	uc003cly.4	-	15	2170	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	696										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACCTGGCCCAGGATCTCATGG	0.617000														56			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534885	92534885	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92534885C>T	uc001pdj.4	+	8	8723	c.8706C>T	c.(8704-8706)ttC>ttT	p.F2902F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2902	Cadherin 26.				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)				GAGAGGCATTCTCTCTTTCCT	0.522000										TCGA Ovarian(4;0.039)				145			11		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113329877	113329877	+	Silent	SNP	C	T	T	rs145960933	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:113329877C>T	uc021xcn.1	+	17	2394	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.I581I|SIDT1_uc011big.2_Silent_p.I334I|SIDT1_uc021xcq.1_Silent_p.I34I|SIDT1_uc011bii.2_Silent_p.I34I	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	581						integral to membrane		p.I581I(2)|p.M580L(1)|p.M580T(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTACATGATCGCTGGCCTGT	0.498000														56			4		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170367264	170367264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170367264C>T	uc002ueu.1	+	0	1053	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	326					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TGAATGCTACCTTACTGCACT	0.433000														75			5		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17349598	17349598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:17349598C>T	uc010hev.3	-	14	1288	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	TBC1D5_uc010heu.3_5'UTR|TBC1D5_uc003cbf.3_Missense_Mutation_p.E342K|TBC1D5_uc003cbe.3_Missense_Mutation_p.E342K|TBC1D5_uc010hew.1_Missense_Mutation_p.E294K	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	342	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding	p.E342K(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGGGGGAACTCTCGTCCAAAT	0.438000														8			3		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482217	17482217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17482217C>T	uc001mnc.3	-	5	955	c.829G>A	c.(829-831)Gac>Aac	p.D277N	ABCC8_uc010rcy.1_Missense_Mutation_p.D276N	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	277					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCTGAATGTCCTTCCGCTGC	0.637000														124			29		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44502933	44502933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44502933G>A	uc002ruc.4	+	0	337	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SLC3A1_uc002rty.3_Missense_Mutation_p.E87K|SLC3A1_uc002rtz.2_Missense_Mutation_p.E87K|SLC3A1_uc002rua.3_Missense_Mutation_p.E87K|SLC3A1_uc002rub.2_Missense_Mutation_p.E87K	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	87					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CATACCTCGGGAGATCCTCTT	0.617000														75			7		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51858160	51858160	+	Missense_Mutation	SNP	C	T	T	rs145044397	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:51858160C>T	uc010xdt.2	-	3	337	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	113	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TACACTAAGTCGATAAAGTCT	0.378000														30			4		0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159161564	159161564	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:159161564C>T	uc003ipx.3	+	9	1316	c.796C>T	c.(796-798)Cta>Tta	p.L266L	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	266						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGAAGCAGTCCTACCAGGTAA	0.378000														18			4		0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65330538	65330539	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:65330538_65330539GG>AA	uc001dbu.1	-	7	1356_1357	c.1107_1108CC>TT	c.(1105-1110)ttccct>ttTTct	p.P370S	JAK1_uc009wam.1_Missense_Mutation_p.P370S	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	370	FERM.				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)		GTGATTTCAGGGAAGTAAGAAA	0.376000			Mis		ALL									33			4		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183600872	183600872	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183600872G>A	uc003ivd.1	+	6	1455	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	460					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)		GAGAGCAGCGGAGCCTGCTTG	0.572000														55			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078726	21078726	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21078726C>T	uc010vbe.2	-	23	3396	c.3396G>A	c.(3394-3396)agG>agA	p.R1132R		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1132	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACCAGAATCCTGTTATCTT	0.453000														33			6		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12170185	12170185	+	Silent	SNP	C	T	T	rs145520020	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12170185C>T	uc001atq.3	+	5	822	c.600C>T	c.(598-600)ctC>ctT	p.L200L	TNFRSF8_uc010obc.2_Silent_p.L89L	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	200					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCGCCTCGCCCAGGAAG	0.627000														61			15		0	0	1	0	0
C1orf55	163859	broad.mit.edu	37	1	226175879	226175879	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226175879G>A	uc001hpu.4	-	5	905	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	284										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					CAGTCACCGGGATCTGCAGTT	0.498000														119			8		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988935	66988935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:66988935G>A	uc003xvs.1	+	3	451	c.160G>A	c.(160-162)Gat>Aat	p.D54N	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	54	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAATCCAGATGATCCAGCTGC	0.403000														44			6		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157483	154157483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:154157483C>T	uc004fmt.3	-	13	4753	c.4582G>A	c.(4582-4584)Gaa>Aaa	p.E1528K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1528	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGCTAGTTTCCGTAGGGAAT	0.478000														23			6		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934682	28934682	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:28934682C>T	uc002kwp.3	+	14	2735	c.2523C>T	c.(2521-2523)taC>taT	p.Y841Y	DSG1_uc010xbp.2_Silent_p.Y200Y	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	841			Y -> F (in dbSNP:rs3752095).		calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCGAGTCTTACACCACCTCTG	0.527000														115			6		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43287194	43287194	+	Silent	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43287194T>G	uc001jaj.3	+	5	1114	c.756T>G	c.(754-756)tcT>tcG	p.S252S		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	252					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCAAACTTCTCACCCTTATA	0.373000														118			7		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574446	140574446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140574446C>T	uc003lix.3	+	0	2495	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGTTATTTCGGATATTCAG	0.488000														46			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727687	13727687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13727687C>T	uc003jfd.2	-	69	12004	c.11962G>A	c.(11962-11964)Gat>Aat	p.D3988N	DNAH5_uc003jfc.2_Missense_Mutation_p.D156N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3988					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)					AGAGATTTATCATAGGCATTT	0.388000									Kartagener syndrome					19			6		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53008018	53008018	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53008018G>A	uc002pzp.4	+	4	418	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGAACTACAGGAACCTGGAGG	0.478000														87			18		0	0	1	0	0
FXYD7	53822	broad.mit.edu	37	19	35642569	35642569	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35642569C>T	uc002nye.1	+	4	297	c.213C>T	c.(211-213)ccC>ccT	p.P71P		NM_022006	NP_071289	P58549	FXYD7_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 7 (FXYD7), mRNA.	71						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGAGCTTCCCTCTTCAGGTG	0.527000														61			7		0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334189	39334189	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39334189G>A	uc002hwd.3	-	0	272	c.228C>T	c.(226-228)tgC>tgT	p.C76C		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	76	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCTGGGACGGCAGCAGGTGG	0.667000														75			9		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706395	96706395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:96706395G>A	uc010how.1	+	2	715	c.672G>A	c.(670-672)atG>atA	p.M224I	EPHA6_uc003drp.1_Missense_Mutation_p.M224I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	129						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTTTTATATGGAATCAGATG	0.388000														40			4		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31011769	31011769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31011769C>T	uc003aip.2	+	5	1184	c.935C>T	c.(934-936)cCa>cTa	p.P312L	TCN2_uc003air.2_Missense_Mutation_p.P285L	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	312					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTGGCACCACGAGGTAGC	0.527000														84			5		0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418411	43418411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43418411C>T	uc003ova.3	-	5	1227	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	DLK2_uc003ovb.3_Missense_Mutation_p.G340R	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	340						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAACAGGGTCCAGGGGGGCAG	0.657000														40			5		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27024690	27024690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27024690C>T	uc010crt.3	+	31	4454	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F	SUPT6H_uc002hby.3_Missense_Mutation_p.S1421F	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1421	SH2.				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)					CCCATGGCATCCTTTGCCCGG	0.522000														61			5		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996156	2996156	+	Silent	SNP	G	A	A	rs147499202	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2996156G>A	uc010vrb.2	-	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	45					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGGCCAGGATGATGAGCACAT	0.547000														43			6		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536029	90536029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90536029C>T	uc010mqi.3	+	3	1236	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	FAM75C1_uc004apq.4_Missense_Mutation_p.P386S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AACTCAGCACCCTGAAAGGCC	0.488000														226			38		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152841653	152841653	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152841653T>A	uc021zhb.1	-	3	473	c.250A>T	c.(250-252)Aag>Tag	p.K84*	SYNE1_uc003qot.4_Nonsense_Mutation_p.K84*|SYNE1_uc003qou.4_Nonsense_Mutation_p.K84*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K84*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.K84*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	84	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATTCGCTTCATCCGGCGT	0.398000										HNSCC(10;0.0054)				22			4		0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208631716	208631716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:208631716G>A	uc021vvr.1	-	0	1748	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	FZD5_uc002vcj.3_Missense_Mutation_p.S583L	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	583					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTACACGTGCGACAGGGACAC	0.687000														75			9		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454121	53454121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53454121G>A	uc002qal.2	-	4	1258	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.H303Y|ZNF816_uc002qam.2_Missense_Mutation_p.H303Y	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGTCTACGATGGCATACAAGG	0.418000														94			7		0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134332079	134332079	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:134332079C>T	uc003lag.3	+	2	455	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	123					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTATCATCGTTATGTTTT	0.483000														34			6		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297915	124297915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124297915C>T	uc001uft.4	+	18	3020	c.2995C>T	c.(2995-2997)Ctc>Ttc	p.L999F	DNAH10_uc010tav.1_Missense_Mutation_p.L541F|DNAH10_uc010taw.1_Missense_Mutation_p.L484F	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	999	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTATCGACCTCTCTGGAAATT	0.398000														82			8		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116371	220116371	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220116371C>T	uc002vkt.1	-	2	349	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TUBA4A_uc010zkz.1_Silent_p.E82E|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	97					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCAGCATCCTCTTTCCCAG	0.527000														39			4		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002763	122002763	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:122002763C>T	uc003eew.4	+	6	2430	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	CASR_uc003eev.4_Silent_p.L654L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	654					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTACCTCCTCCTCTTCTCCC	0.592000														96			6		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652269	1652269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1652269G>A	uc002qxa.3	-	16	3347	c.3283C>T	c.(3283-3285)Cac>Tac	p.H1095Y		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1095					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H1095L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGGGGAGGTGATCTTGTGCA	0.582000														19			4		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920960	3920960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3920960G>A	uc002fxe.3	-	47	7770	c.7706C>T	c.(7705-7707)tCc>tTc	p.S2569F	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2569							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTCTGTGCTGGAGATCAGCTT	0.587000														54			6		0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76117646	76117646	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76117646G>A	uc002juj.1	-	9	1500	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	TMC6_uc002jui.1_Silent_p.F97F|TMC6_uc010dhf.1_Silent_p.F291F|TMC6_uc002juk.2_Silent_p.F458F|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.F458F|TMC6_uc002jum.4_Silent_p.F249F|TMC6_uc002jun.4_Silent_p.F458F|TMC6_uc002juo.2_Silent_p.F231F	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	458						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTGGATCATGAACTCCGAGA	0.701000														40			10		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423375	26423375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26423375G>A	uc003abz.1	+	42	7685	c.7435G>A	c.(7435-7437)Gag>Aag	p.E2479K	MYO18B_uc003aca.1_Missense_Mutation_p.E2360K|MYO18B_uc010guy.1_Missense_Mutation_p.E2361K|MYO18B_uc010guz.1_Missense_Mutation_p.E2359K|MYO18B_uc011aka.1_Missense_Mutation_p.E1633K|MYO18B_uc011akb.1_Missense_Mutation_p.E1992K|MYO18B_uc010gva.1_Missense_Mutation_p.E462K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2479						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAAACGGAAGAGGCTAACCG	0.562000														53			6		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049977	42049977	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42049977G>A	uc001cgz.4	-	3	1705	c.492C>T	c.(490-492)ttC>ttT	p.F164F	HIVEP3_uc001cha.4_Silent_p.F164F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	164					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.F164F(2)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACGAGGCACGAAGACTTTGG	0.597000														145			11		0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61645657	61645657	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61645657C>T	uc002ljv.3	+	1	284	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	SERPINB8_uc002ljs.1_Silent_p.L39L|SERPINB8_uc002ljt.3_Silent_p.L39L|SERPINB8_uc002lju.3_Silent_p.L39L|SERPINB8_uc010xex.2_Intron	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	39					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTCCTCTGCCCTGGCCATGGT	0.483000														34			6		0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234255054	234255054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234255054G>A	uc002vuh.2	+	14	1496	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	SAG_uc010zmq.1_Intron	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	370					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)		TACAGCTAAGGAAAGGTGAGT	0.443000														164			8		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50960190	50960190	+	Missense_Mutation	SNP	G	A	A	rs150734131	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50960190G>A	uc009xog.3	-	3	698	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	OGDHL_uc001jie.3_Missense_Mutation_p.R195W|OGDHL_uc010qgt.2_Missense_Mutation_p.R138W|OGDHL_uc010qgu.2_5'UTR|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	195					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCCAGGCGCCGAATGATCTCC	0.562000														61			7		0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237172	30237172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:30237172G>A	uc022buf.1	+	0	475	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	MAGEB2_uc004dbz.3_Missense_Mutation_p.G159S	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	159	MAGE.						protein binding	p.G159C(3)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCTCTGAGGGCCTCAGTGT	0.458000														10			3		0	0	1	0	0
FGF2	2247	broad.mit.edu	37	4	123748449	123748449	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123748449C>T	uc003iev.1	+	0	587	c.519C>T	c.(517-519)ttC>ttT	p.F173F		NM_002006	NP_001997	P09038	FGF2_HUMAN	Homo sapiens fibroblast growth factor 2 (basic) (FGF2), mRNA.	173					Ras protein signal transduction|activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	GGGGCTTCTTCCTGCGCATCC	0.672000														30			6		0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49497551	49497551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49497551G>A	uc001rth.4	-	5	823	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	LMBR1L_uc001rtg.4_Missense_Mutation_p.L156F|LMBR1L_uc001rti.4_Missense_Mutation_p.L161F|LMBR1L_uc001rtj.1_Missense_Mutation_p.L5F|LMBR1L_uc009zld.1_Missense_Mutation_p.L34F|LMBR1L_uc010smf.1_Non-coding_Transcript	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA.	161					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCAGAGTGAGGAGCATCAAC	0.552000														113			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38950129	38950129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38950129G>A	uc021yzh.1	+	85	12951	c.12842G>A	c.(12841-12843)cGa>cAa	p.R4281Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R4064Q|DNAH8_uc003oog.1_Missense_Mutation_p.R513Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGAGCGACGAAAATTTGGC	0.343000														42			7		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272346	233272346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233272346G>A	uc002vss.4	+	3	396	c.343G>A	c.(343-345)Gcc>Acc	p.A115T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	115					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGGAGCCACAGCCACGGCCTA	0.577000														30			6		0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231738192	231738192	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231738192C>T	uc002vqz.3	+	1	301	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ITM2C_uc002vra.3_Intron|ITM2C_uc002vrb.3_Silent_p.L61L|ITM2C_uc002vrc.3_5'Flank|ITM2C_uc002vrd.3_5'Flank	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	61					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGTGTGCTACCTGTCGATGGG	0.632000														44			12		0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43144299	43144299	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43144299C>T	uc003oui.3	+	3	1531	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A	SRF_uc011dvf.2_Silent_p.A148A	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	352					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCAGTGGCCCAGCAGGTCC	0.617000														70			8		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222794578	222794578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:222794578C>T	uc001hnl.3	+	1	220	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	71	SH3.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAAAGGTGATCCTGTATATGT	0.363000														292			19		0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80899225	80899225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:80899225G>A	uc003hlz.4	-	14	2046	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	ANTXR2_uc003hly.4_Missense_Mutation_p.P428L|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.P325L	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	428						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						AGGTGGTCTAGGCCTGATGGG	0.463000									Juvenile Hyaline Fibromatosis					63			7		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955218	116955218	+	Silent	SNP	G	A	A	rs142048882	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:116955218G>A	uc003viz.3	-	2	795	c.495C>T	c.(493-495)atC>atT	p.I165I	WNT2_uc003vja.3_Silent_p.I69I	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGGCAAATTTGATCCCATAGT	0.468000														63			6		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146775141	146775141	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:146775141C>T	uc003loo.3	-	12	2145	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	DPYSL3_uc003lon.1_Silent_p.Q535Q	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	535					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATCCCGACTGATGAAGAT	0.572000														6			4		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145775	70145775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70145775C>T	uc004dyn.3	-	11	1922	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	SLC7A3_uc004dyo.3_Missense_Mutation_p.G583D	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	583					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GATCCCATAGCCGAAGTAGAT	0.507000														33			10		0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63850313	63850313	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63850313C>T	uc002amf.3	+	5	588	c.459C>T	c.(457-459)acC>acT	p.T153T	USP3_uc010uii.1_Intron|USP3_uc002amg.3_Silent_p.T68T|USP3_uc002amh.3_Silent_p.T131T|USP3_uc010uij.2_Silent_p.T109T|USP3_uc010uik.2_Intron|USP3_uc010bgs.3_Silent_p.T136T|USP3_uc002ami.3_5'UTR	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	Homo sapiens ubiquitin specific peptidase 3 (USP3), mRNA.	153					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGGGAAGCACCACTGCCATTT	0.478000														43			27		0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	665953	665953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:665953C>T	uc003wph.3	-	1	142	c.77G>A	c.(76-78)gGa>gAa	p.G26E		NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	26										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTCCCTCTTTCCTTGGCCACT	0.468000														85			14		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43924811	43924811	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:43924811G>A	uc003bdy.2	-	31	4742	c.4428C>T	c.(4426-4428)ttC>ttT	p.F1476F	EFCAB6_uc003bdz.2_Silent_p.F1324F|EFCAB6_uc010gzi.2_Silent_p.F1324F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1476	EF-hand 17.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAGAATATGGAAGAACTCTT	0.507000														129			5		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55853500	55853500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:55853500G>A	uc002eim.3	-	6	958	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CES1_uc002eil.3_Missense_Mutation_p.H285Y|CES1_uc002ein.3_Missense_Mutation_p.H284Y	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	284					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CGCAGGCAGTGAACCATGACA	0.517000														59			5		0	0	1	0	0
PHF16	9767	broad.mit.edu	37	X	46857534	46857534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:46857534G>A	uc004dgx.3	+	3	190	c.139G>A	c.(139-141)Gac>Aac	p.D47N	PHF16_uc004dgy.3_Missense_Mutation_p.D47N	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	47					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						ATTCCGGAAGGACCTCATCAG	0.408000														33			13		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388715	4388715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4388715G>A	uc010qye.2	-	0	902	c.811C>T	c.(811-813)Cca>Tca	p.P271S		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATACAAGGTGGAATGTGGCGT	0.463000														8			3		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876356	35876356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35876356C>T	uc003jjs.3	+	7	1237	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	383					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCTATTCTCTCCTCTTCCAGG	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							12			4		0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53421715	53421715	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:53421715G>A	uc004dsg.3	-	18	3025	c.2956C>T	c.(2956-2958)Ctg>Ttg	p.L986L	SMC1A_uc011moe.2_Silent_p.L964L	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	986					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCCTCACACAGATCACCGTAG	0.547000														29			9		0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24782684	24782684	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24782684C>T	uc001bjh.3	+	7	1101	c.694C>T	c.(694-696)Caa>Taa	p.Q232*	NIPAL3_uc009vrc.3_Nonsense_Mutation_p.Q150*|NIPAL3_uc001bji.3_Nonsense_Mutation_p.Q7*	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	232						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CTTGTCCATTCAAGGGAACCT	0.547000														323			10		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428537	57428537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57428537G>A	uc002xzw.3	+	0	502	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.G73V(1)		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)			ACCCCCAGAGGTCTCCAGACC	0.627000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				17			3		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847252	94847252	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94847252G>A	uc001ycy.4	-	4	1427	c.873C>T	c.(871-873)ctC>ctT	p.L291L	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.L291L|SERPINA1_uc010auy.3_Silent_p.L291L|SERPINA1_uc001ycz.4_Silent_p.L291L|SERPINA1_uc010auz.3_Silent_p.L291L|SERPINA1_uc010ava.3_Silent_p.L291L|SERPINA1_uc001ydb.4_Silent_p.L291L|SERPINA1_uc010avb.3_Silent_p.L291L|SERPINA1_uc001ydc.4_Silent_p.L291L|SERPINA1_uc010auw.3_Silent_p.L291L|SERPINA1_uc010aux.3_Silent_p.L291L|SERPINA1_uc001yda.1_Silent_p.L291L	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	291					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TATCGTGGGTGAGTTCATTTT	0.517000														95			7		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62370894	62370894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:62370894G>A	uc003xuh.3	+	4	1094	c.770G>A	c.(769-771)aGc>aAc	p.S257N	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	257	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AATTTAAACAGCCTTCACCAG	0.398000														56			6		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408554	40408554	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40408554G>A	uc002omp.4	-	7	4293	c.4285C>T	c.(4285-4287)Ctg>Ttg	p.L1429L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1429	VWFD 3.					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)			GTGGGCGGCAGGCAGGGAGAG	0.627000														66			5		0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60609702	60609702	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60609702C>T	uc001nqa.2	+	0	274	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	35					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TTGTGGAGTTCGAGTCGAACC	0.657000														31			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675124	100675124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100675124G>A	uc003uxp.1	+	2	480	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	143	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTCCTGAAGGCACCGA	0.473000														83			10		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190904372	190904372	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:190904372T>G	uc011clg.2	-	3	613	c.395A>C	c.(394-396)aAc>aCc	p.N132T				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	204					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										TAGCGCTTCGTTATCTATGCA	0.537000														87			17		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131641443	131641443	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131641443C>T	uc021qav.1	-	11	1184	c.1083G>A	c.(1081-1083)gcG>gcA	p.A361A	EBF3_uc001lki.2_Silent_p.A375A	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	384					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCACCAGGTCCGCCGCCCGCT	0.602000														16			4		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972595	40972595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40972595C>T	uc003jmh.3	+	14	2087	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	658	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGACTGTTTCCTGTTCAGGT	0.458000														32			9		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504889	18504889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:18504889G>A	uc003zne.4	+	1	278	c.126G>A	c.(124-126)tgG>tgA	p.W42*	ADAMTSL1_uc003znb.3_Nonsense_Mutation_p.W42*|ADAMTSL1_uc003znc.4_Nonsense_Mutation_p.W42*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	42	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGCCCATGGAGTGAATGCT	0.607000														68			6		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109698506	109698506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109698506G>A	uc004eor.2	+	3	4370	c.4124G>A	c.(4123-4125)gGa>gAa	p.G1375E		NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	1375										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATCACCTTGGACAGAGCACA	0.488000														42			15		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1961227	1961227	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1961227C>T	uc003gdz.4	+	16	3191	c.3015C>T	c.(3013-3015)atC>atT	p.I1005I	WHSC1_uc003geb.4_Silent_p.I1005I|WHSC1_uc003gec.4_Silent_p.I1005I|WHSC1_uc003ged.4_Silent_p.I1005I|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.I224I|WHSC1_uc011bvh.2_Silent_p.I66I|WHSC1_uc010icf.3_Silent_p.I353I	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	1005					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAGTCCAGATCTACACAGCGG	0.493000			T	IGH@	MM									32			7		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114061864	114061864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:114061864G>A	uc001kzr.1	+	8	913	c.913G>A	c.(913-915)Gga>Aga	p.G305R		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	305						anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R304W(1)		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)		TACAGGCAGGGGATTTTCCAG	0.423000														63			5		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116434436	116434436	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:116434436G>A	uc001tvw.3	-	15	2896	c.2841C>T	c.(2839-2841)tcC>tcT	p.S947S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	947					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAACATGGAGGATCCCACAA	0.448000														22			9		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620080	56620080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56620080C>T	uc002iwq.2	-	0	1654	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	490										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGGAAACTCCTTTGGTGGT	0.473000														272			11		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959855	92959855	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92959855C>A	uc001yak.3	+	16	1775	c.1752C>A	c.(1750-1752)gaC>gaA	p.D584E	SLC24A4_uc001yai.3_Missense_Mutation_p.D520E|SLC24A4_uc010twm.2_Missense_Mutation_p.D565E|SLC24A4_uc010auj.3_3'UTR|SLC24A4_uc010twn.2_Missense_Mutation_p.D340E|SLC24A4_uc001yan.3_Missense_Mutation_p.D278E	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	584						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.C583S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GGCGACTGGACCGGAAGCTGG	0.507000														35			5		1	1	1	1	0
HEXDC	284004	broad.mit.edu	37	17	80395114	80395114	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80395114C>T	uc002kev.4	+	7	1190	c.774C>T	c.(772-774)gcC>gcT	p.A258A	HEXDC_uc002kew.3_Silent_p.A258A|HEXDC_uc010wvm.2_Non-coding_Transcript|HEXDC_uc010wvn.1_Silent_p.A21A	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	258					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCAAGGGTGCCACGGGGCCCA	0.667000														142			9		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442358	20442358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20442358G>A	uc002dhe.3	+	8	1316	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	390					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATCAAGTCTGGATCCATGGGG	0.537000														134			11		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104738	74104738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:74104738G>A	uc003pgw.3	+	0	454	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	37						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAGTTGAATCGAACAGGTCCT	0.657000														100			8		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43352459	43352459	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43352459C>T	uc001cij.1	+	3		c.361C>T								Homo sapiens cDNA clone IMAGE:5170739.																		TGAGGTAGATCACAGCCAGCA	0.587000														12			7		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48874166	48874166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:48874166C>T	uc003xqk.2	+	2	987	c.161C>T	c.(160-162)tCg>tTg	p.S54L	PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.S54L|MCM4_uc011ldi.2_Missense_Mutation_p.S54L|MCM4_uc010lxw.2_Intron	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	54					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			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATGCCAACCTCGCCTGGAGTG	0.587000														54			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106610487	106610487	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106610487C>T	uc021ser.1	-	1671		c.32084G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.557000														44			18		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008508	11008508	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11008508G>A	uc010oao.2	-	11	1684	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	C1orf127_uc001ars.2_Silent_p.L397L|C1orf127_uc001arr.2_Silent_p.L405L	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	413										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTCTCAGCAGGAGGGGACTT	0.607000														48			8		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598953	57598953	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57598953G>A	uc002yak.3	+	3	740	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	157					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGATTAGAGAGGAGTACCCGG	0.592000														97			8		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798437	55798437	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55798437C>T	uc010riw.2	+	0	543	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTGTGATATCCCACCTCTTC	0.428000														76			15		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11911634	11911634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11911634C>T	uc010yjm.2	+	4	625	c.572C>T	c.(571-573)cCc>cTc	p.P191L	LPIN1_uc010yjn.2_Missense_Mutation_p.P142L|LPIN1_uc002rbt.3_Missense_Mutation_p.P142L|LPIN1_uc002rbs.3_Missense_Mutation_p.P142L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	142					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.P142L(1)		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)		GTGATCGCTCCCAGCGAGACG	0.537000														44			7		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40070073	40070073	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40070073G>A	uc002hyg.3	-	1	217	c.54C>T	c.(52-54)ttC>ttT	p.F18F	ACLY_uc002hyh.3_Silent_p.F18F|ACLY_uc002hyi.3_Silent_p.F72F|ACLY_uc010wfx.2_Silent_p.F72F|ACLY_uc010wfy.2_Silent_p.F18F	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	18					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.F18F(2)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTACAGATGAACTTGTAAA	0.562000														160			8		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706682	26706682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26706682G>A	uc003acb.3	+	6	1757	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	SEZ6L_uc003acd.3_Missense_Mutation_p.D521N|SEZ6L_uc011akd.2_Missense_Mutation_p.D521N|SEZ6L_uc003ace.3_Missense_Mutation_p.D521N|SEZ6L_uc011akc.2_Missense_Mutation_p.D521N|SEZ6L_uc003acc.3_Missense_Mutation_p.D521N|SEZ6L_uc003acf.1_Missense_Mutation_p.D294N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D294N	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	521	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.Y520*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCTTCTCTACGACTCCCTTCA	0.602000														85			7		0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28339627	28339627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:28339627G>A	uc001bpi.2	-	8	946	c.764C>T	c.(763-765)tCc>tTc	p.S255F	EYA3_uc010ofs.2_Missense_Mutation_p.S202F|EYA3_uc010oft.2_Missense_Mutation_p.S209F|EYA3_uc001bpj.3_Missense_Mutation_p.S209F|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	255					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTTACCAGAGGAAAGTCTCTG	0.473000														56			8		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877477	125877477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:125877477C>T	uc003eim.1	-	2	323	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.E45K|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.E71K|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	45	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCTCAGCTTCCAGACCTGTG	0.572000														43			11		0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146576365	146576365	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:146576365C>T	uc003ikh.4	+	6	1121	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	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.	346						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)	GAAAGATTTCCAGGACCTAAT	0.438000														54			6		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151356784	151356784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151356784G>A	uc010ipj.3	-	46	7275	c.7031C>T	c.(7030-7032)tCc>tTc	p.S2344F	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.S234F|LRBA_uc003ilt.4_Missense_Mutation_p.S992F|LRBA_uc003ilu.4_Missense_Mutation_p.S2333F	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2344	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCAAGCTCTGGAAATTGATGA	0.333000														38			4		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107505	6107505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6107505C>T	uc010idb.1	-	2	805	c.319G>A	c.(319-321)Gag>Aag	p.E107K	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E107K|JAKMIP1_uc003giu.4_Missense_Mutation_p.E107K|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.E107K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E107K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	107	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTCGCCCTCCTTGATCTTG	0.711000														27			5		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470696	44470696	+	Missense_Mutation	SNP	C	T	T	rs150319141	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44470696C>T	uc002oxx.2	+	5	1370	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ZNF221_uc010ejb.1_Missense_Mutation_p.R348C|ZNF221_uc010xws.1_Missense_Mutation_p.R348C	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	348					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)				CAAGAACTTTCGTCAGAGATC	0.408000														66			12		0	0	1	0	0
FOSB	2354	broad.mit.edu	37	19	45974140	45974140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45974140G>A	uc002pbx.4	+	1	972	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.G127E|FOSB_uc010eka.1_Missense_Mutation_p.G88E|FOSB_uc010ekb.1_Missense_Mutation_p.G127E|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G127E|FOSB_uc010eke.3_Missense_Mutation_p.G88E|FOSB_uc002pby.4_Missense_Mutation_p.G127E|FOSB_uc010ekf.3_Missense_Mutation_p.G88E|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_Missense_Mutation_p.G78E	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	127					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TCCACCAGCGGAACTACCAGT	0.657000														80			5		0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46671288	46671288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46671288C>T	uc003bhi.3	+	4	585	c.509C>T	c.(508-510)cCc>cTc	p.P170L	TTC38_uc011aqx.2_Intron	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	170							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CGAATTTACCCCTTCTGGACA	0.438000														103			4		0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5610062	5610062	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5610062G>A	uc002mcd.3	-	8	1452	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	414	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTGGAGGACAGCCCGCTGACC	0.557000														22			4		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181674	128181674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128181674C>T	uc003ekk.1	-	2	2076	c.415G>A	c.(415-417)Gga>Aga	p.G139R	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.G139R	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	139					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGAAATTCTCCAAAGCCTGCC	0.617000														26			9		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29621147	29621147	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29621147G>C	uc003aem.3	+	3	420	c.345G>C	c.(343-345)gaG>gaC	p.E115D	EMID1_uc003aen.3_Missense_Mutation_p.E113D	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	113						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCTCCTTGGAGCCCATGTGGT	0.642000														92			7		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491485	103491485	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103491485C>T	uc001dum.3	-	5	1122	c.804G>A	c.(802-804)aaG>aaA	p.K268K	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	268	Nonhelical 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			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)		TCCTCATCTTCTTTTTGAAAT	0.333000														67			8		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209801435	209801435	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209801435G>A	uc001hhg.3	-	9	1623	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	LAMB3_uc009xco.3_Silent_p.D411D|LAMB3_uc001hhh.3_Silent_p.D411D|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	411	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTTGCATAGGTCACAGCGCT	0.657000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			3		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661444	77661444	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:77661444G>A	uc011cbx.2	+	4	3071	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	SHROOM3_uc011cbz.1_Silent_p.R530R|SHROOM3_uc003hkf.1_Silent_p.R581R|SHROOM3_uc003hkg.3_Silent_p.R484R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	706					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)			ACCCTGGGAGGAAAGCCGCTC	0.662000														129			6		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374389	6374389	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6374389C>T	uc003gja.3	-	4	510	c.486G>A	c.(484-486)gtG>gtA	p.V162V	PPP2R2C_uc003gjb.3_Silent_p.V145V|PPP2R2C_uc003gjc.3_Silent_p.V162V|PPP2R2C_uc011bwd.2_Silent_p.V155V|PPP2R2C_uc011bwe.2_Silent_p.V155V|PPP2R2C_uc003gjd.1_Silent_p.V250V	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	162					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCGAGGGCTCACCTCCACCA	0.577000														79			15		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804673	43804674	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43804673_43804674CC>TT	uc002xng.3	+	1	275_276	c.251_252CC>TT	c.(250-252)gcc>gTT	p.A84V		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	p.C83C(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				ATCCGGTGCGCCATGTTGAATC	0.515000														44			9		0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71265942	71265942	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:71265942C>T	uc001jpo.1	+	6	806	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	227						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCATCTGGTTCATGGACAACT	0.592000														56			5		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74560742	74560742	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74560742C>T	uc002axo.3	+	4	883	c.489C>T	c.(487-489)gtC>gtT	p.V163V	CCDC33_uc002axp.3_5'UTR	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	366							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACGCAACAGTCGTTCGGAAGA	0.607000														39			5		0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134258871	134258871	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:134258871G>A	uc003yuh.2	-	12	1429	c.843C>T	c.(841-843)acC>acT	p.T281T	NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Silent_p.T92T|NDRG1_uc003yug.2_Silent_p.T281T|NDRG1_uc010mee.2_Silent_p.T200T|NDRG1_uc010mef.2_Silent_p.T215T|NDRG1_uc011ljh.1_Silent_p.T109T|NDRG1_uc011lji.1_Silent_p.T28T	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	281					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGAGGAGAGTGGTCTTTGTTG	0.438000			T	ERG	prostate									131			25		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100594173	100594173	+	Missense_Mutation	SNP	G	A	A	rs149692828		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:100594173G>A	uc002bvv.1	-	15	2303	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	742	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCACATAGCGAACAGTTGTG	0.517000														173			13		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229360	39229360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39229360C>T	uc003cjk.2	-	1	1806	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	XIRP1_uc003cji.3_Missense_Mutation_p.R526Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R526Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	526							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTGGGGCTTCGGCCGAGCTG	0.617000														88			6		0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120750397	120750397	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120750397C>T	uc001tyc.3	+	2	695	c.636C>T	c.(634-636)gtC>gtT	p.V212V		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	212	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGAGCAAGTCCGGAGCTTTC	0.552000														34			6		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19496170	19496170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:19496170G>A	uc002wrl.3	+	2	507	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	104						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACAAACGAGGATAGAAGACA	0.527000														91			4		0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964923	3964923	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3964923G>A	uc002lzc.1	-	1	223	c.129C>T	c.(127-129)ttC>ttT	p.F43F	DAPK3_uc002lzd.1_Silent_p.F43F	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	43	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTTGATGAACTTGGCTG	0.657000														94			13		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224777	248224777	+	Missense_Mutation	SNP	G	A	A	rs148776094		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248224777G>A	uc001idx.1	+	0	794	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265Q(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGATCCCTGCGATCTCCAACA	0.507000														41			4		0	0	1	0	0
CTRB2	440387	broad.mit.edu	37	16	75238128	75238128	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:75238128G>A	uc002fdr.3	-	6	756	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_001025200	NP_001020371	Q6GPI1	CTRB2_HUMAN	Homo sapiens chymotrypsinogen B2 (CTRB2), mRNA.	241	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.T240N(2)		endometrium(1)|large_intestine(1)|lung(2)	4						CAGCGGGCGTGGTGGTAGAGC	0.662000														68			10		0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33437843	33437843	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33437843G>A	uc002xay.3	-	13	1789	c.1746C>T	c.(1744-1746)acC>acT	p.T582T	GGT7_uc010gex.3_Non-coding_Transcript|GGT7_uc002xaz.1_Silent_p.T599T	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	582					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGTTCAAGGTCAGGACAT	0.597000														46			10		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243747	119243747	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:119243747C>T	uc001pwm.4	-	1	739	c.444G>A	c.(442-444)cgG>cgA	p.R148R	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	148	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.R148L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGAGAAATCCCGGGCCAGGT	0.622000														102			6		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49398412	49398412	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49398412C>T	uc002pkz.2	-	5	508	c.357G>A	c.(355-357)agG>agA	p.R119R		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	119					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GACCGAGATTCCTGAACACTG	0.557000														71			7		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492407	73492408	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73492407_73492408CC>TT	uc010wsa.2	+	22	3320_3321	c.3128_3129CC>TT	c.(3127-3129)acc>aTT	p.T1043I	KIAA0195_uc002jnz.4_Missense_Mutation_p.T1033I|KIAA0195_uc010wsb.2_Missense_Mutation_p.T673I|KIAA0195_uc002job.4_Missense_Mutation_p.T41I	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1033					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.T1033I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGGGAGACCTTTGGCTACG	0.624000														42			16		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17541980	17541980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17541980G>A	uc003wxv.3	-	6	3169	c.2695C>T	c.(2695-2697)Cct>Tct	p.P899S	MTUS1_uc003wxt.3_Missense_Mutation_p.P146S|MTUS1_uc011kyg.2_Missense_Mutation_p.P44S|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.P845S|MTUS1_uc003wxs.3_Missense_Mutation_p.P65S	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	899						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTCTCAGGGGGCAGCGCA	0.428000														191			20		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755509	38755509	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38755509G>A	uc003ciq.3	-	20	3744	c.3744C>T	c.(3742-3744)gcC>gcT	p.A1248A		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1248					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGTTCGAAGGGCTTTGATGG	0.512000														46			8		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6066665	6066665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6066665G>A	uc010idb.1	-	8	1859	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	JAKMIP1_uc010idc.1_Missense_Mutation_p.S273F|JAKMIP1_uc010idd.1_Missense_Mutation_p.S458F|JAKMIP1_uc003giu.4_Missense_Mutation_p.S458F|JAKMIP1_uc011bwc.2_Missense_Mutation_p.S293F|JAKMIP1_uc003giv.4_Missense_Mutation_p.S458F|JAKMIP1_uc010ide.3_Missense_Mutation_p.S458F	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	458	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTGTTGTAGGATGTTTCGGA	0.493000														48			5		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670049	158670049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158670049G>A	uc001fsu.1	-	0	394	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGATAGAGGGATAATGAAGA	0.478000														37			10		0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1376566	1376566	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1376566C>T	uc002lrz.2	+	13	2237	c.2127C>T	c.(2125-2127)cgC>cgT	p.R709R	MUM1_uc002lsb.2_Silent_p.R640R|MUM1_uc010xgm.1_3'UTR|MUM1_uc002lsd.2_Non-coding_Transcript	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	708					DNA repair|chromatin organization	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;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)		GGAACCGGCGCCGTCGGTGAG	0.537000														70			14		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919227	51919227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51919227C>T	uc002pwo.3	-	4	1171	c.949G>A	c.(949-951)Gat>Aat	p.D317N	SIGLEC10_uc002pwp.3_Missense_Mutation_p.D259N|SIGLEC10_uc021uyl.1_Missense_Mutation_p.D234N|SIGLEC10_uc002pwq.3_Missense_Mutation_p.D259N|SIGLEC10_uc010ycz.2_Missense_Mutation_p.D269N|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.D317N|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.D129N|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	317	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGCCCTGAATCCCCAGCCTTC	0.672000														46			9		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442784	92442784	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:92442784A>G	uc001dol.4	+	6	1221	c.803A>G	c.(802-804)aAa>aGa	p.K268R	BRDT_uc010osz.2_Missense_Mutation_p.K272R|BRDT_uc001dok.4_Missense_Mutation_p.K268R|BRDT_uc009wdf.3_Missense_Mutation_p.K195R|BRDT_uc010otb.2_Missense_Mutation_p.K222R|BRDT_uc010ota.2_Missense_Mutation_p.K222R|BRDT_uc001dom.4_Missense_Mutation_p.K268R	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGACTGTTAAAGTAACTGAA	0.343000														37			11		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134233036	134233036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:134233036G>A	uc003yub.3	+	2	668	c.562G>A	c.(562-564)Gac>Aac	p.D188N	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	188					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTGAGGACGACGCCAAGAG	0.682000														43			8		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948454	82948454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:82948454G>A	uc003kim.3	-	1	361	c.290C>T	c.(289-291)tCc>tTc	p.S97F	HAPLN1_uc003kin.3_Missense_Mutation_p.S97F	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	97	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GTATCCCATGGAAACAAAAAC	0.448000														50			8		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029427	219029427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219029427G>A	uc021vwq.1	-	0	508	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	CXCR1_uc002vhc.3_Missense_Mutation_p.P170S	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	170					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AGGAAGAAGGGCAGGGACAGA	0.522000														22			3		0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722619	122722619	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:122722619C>T	uc003iea.3	+	0	148	c.40C>T	c.(40-42)Cta>Tta	p.L14L	EXOSC9_uc003idz.3_Silent_p.L14L|EXOSC9_uc003ieb.3_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	14	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.L14L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						ACGCCGCTTCCTACTCCGTGC	0.592000														57			15		0	0	1	0	0
LOC254559	254559	broad.mit.edu	37	15	89911357	89911357	+	RNA	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89911357C>G	uc002bnv.2	+	0		c.28C>G								Homo sapiens uncharacterized LOC254559 (LOC254559), non-coding RNA.																		CGTGCGAgcgcccgccccacc	0.627000														22			4		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94642028	94642028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:94642028C>T	uc001tdc.3	+	13	2867	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	873					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAACATTTCCAAAAAAGAC	0.338000														18			3		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119810202	119810202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:119810202G>A	uc010inb.3	+	0	207	c.11G>A	c.(10-12)gGg>gAg	p.G4E	SYNPO2_uc010ina.3_Missense_Mutation_p.G4E|SYNPO2_uc003icm.4_Missense_Mutation_p.G4E|SYNPO2_uc011cgh.2_Missense_Mutation_p.G4E	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	4						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						ATGGGCACAGGGGATTTTATC	0.547000														71			6		0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915315	119915315	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:119915315G>A	uc002tlo.2	-	0	1157	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	177	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCACGTCATCGAACTTCAGCA	0.577000										HNSCC(49;0.14)				20			8		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408527	2408527	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2408527G>A	uc022brx.1	-	0	234	c.234C>T	c.(232-234)ttC>ttT	p.F78F	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.F78F|ZBED1_uc004cqg.2_Silent_p.F78F|ZBED1_uc022brw.1_Silent_p.F78F	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	78						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTCTTGACGAACTCGCAGA	0.622000														110			8		0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042439	90042439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:90042439C>T	uc003ukp.3	+	4	1085	c.449C>T	c.(448-450)cCa>cTa	p.P150L	CLDN12_uc003ukq.3_Missense_Mutation_p.P150L|CLDN12_uc010leq.3_Missense_Mutation_p.P150L|CLDN12_uc003uks.3_Missense_Mutation_p.P150L|CLDN12_uc003ukr.3_Missense_Mutation_p.P150L|CLDN12_uc022ahd.1_Missense_Mutation_p.P150L	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	150					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						AGCCTCTCCCCATCTATCTGG	0.478000														60			5		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7227237	7227237	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7227237G>A	uc002gga.1	-	11	2164	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	GPS2_uc002ggb.1_Silent_p.F719F|GPS2_uc002ggc.1_Silent_p.F65F	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCAGCTGATGGAAGCGCAGGT	0.612000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			8		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798235	38798235	+	Missense_Mutation	SNP	G	A	A	rs41305843		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38798235G>A	uc003gtl.3	-	3	2492	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	TLR1_uc021xnn.1_Missense_Mutation_p.P740S	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	740	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAACTGCTAGGAATGGAGTAC	0.438000														40			4		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984762	68984762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:68984762C>T	uc003xxv.1	+	13	1553	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	PREX2_uc003xxu.1_Missense_Mutation_p.S509F|PREX2_uc011lez.1_Missense_Mutation_p.S444F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	509	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTACAAATCTGTGGTCATG	0.338000														43			5		0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225510	51225510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51225510G>A	uc001jij.3	-	6	1598	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	PARG_uc001jih.3_Intron|PARG_uc009xoj.3_Intron|PARG_uc001jif.3_Intron|PARG_uc001jig.3_Intron|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Intron|PARG_uc010qgx.2_Intron|AGAP8_uc009xom.3_Missense_Mutation_p.S406F|AGAP8_uc001jik.3_Missense_Mutation_p.S475F|AGAP8_uc010qgy.2_Missense_Mutation_p.S514F|AGAP8_uc021pqg.1_Missense_Mutation_p.S491F|DQ588224_uc001jil.1_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	491	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						TCGCACACGGGAAAGGCGGGT	0.527000														146			12		0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412655	50412655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50412655G>A	uc002prb.3	-	1	654	c.410C>T	c.(409-411)cCc>cTc	p.P137L	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.P137L|NUP62_uc002pqy.3_Missense_Mutation_p.P137L|NUP62_uc002pra.3_Missense_Mutation_p.P137L|NUP62_uc002pqz.3_Missense_Mutation_p.P137L|NUP62_uc002prc.3_Missense_Mutation_p.P137L|NUP62_uc021uya.1_Missense_Mutation_p.P137L	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	137	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAAGCCGGTGGGTGCTGTGCC	0.627000														64			8		0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158390185	158390185	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:158390185G>T	uc003fch.3	-	0	298	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron|LXN_uc011bov.1_Missense_Mutation_p.P28Q	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	Homo sapiens latexin (LXN), mRNA.	28						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CACCCTGTGCGGGGTCCCCTG	0.592000											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			5		1	1	1	1	0
TTN	7273	broad.mit.edu	37	2	179437307	179437307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179437307C>T	uc021vsy.1	-	274	66073	c.65848G>A	c.(65848-65850)Gat>Aat	p.D21950N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15645N|TTN_uc021vta.1_Missense_Mutation_p.D15578N|TTN_uc021vtb.1_Missense_Mutation_p.D15453N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22877	Fibronectin type-III 59.						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)			CCTGGTGTATCGAGAACTCTA	0.418000														16			3		0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60615435	60615435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60615435C>T	uc001nqa.2	+	1	966	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	266					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CTGCGCACATCGTGGCAGCGG	0.622000														106			30		0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60075592	60075592	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60075592C>T	uc001noz.3	+	6	796	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	MS4A4A_uc001npa.3_Silent_p.L202L|MS4A4A_uc001npc.3_Silent_p.L168L	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	221						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TGTGTTAATTCTGCCATCACA	0.438000														64			5		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897294	61897294	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61897294C>A	uc001nsw.1	+	3	497	c.295C>A	c.(295-297)Cga>Aga	p.R99R	INCENP_uc009ynv.3_Silent_p.R99R|INCENP_uc009ynw.1_Silent_p.R99R|INCENP_uc001nsx.1_Silent_p.R99R	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	99					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAGCTCCCGACGCCTCCG	0.667000														26			9		3.86212e-05	3.90485e-05	1	1	0
SPATA16	83893	broad.mit.edu	37	3	172835108	172835108	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:172835108C>T	uc003fin.4	-	1	598	c.414G>A	c.(412-414)gaG>gaA	p.E138E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	138					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACTCTACAAACTCATAGCGAA	0.428000														25			4		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892420	71892420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71892420C>T	uc010fen.3	+	46	5444	c.5303C>T	c.(5302-5304)tCc>tTc	p.S1768F	DYSF_uc010fei.3_Missense_Mutation_p.S1746F|DYSF_uc010feh.3_Missense_Mutation_p.S1736F|DYSF_uc002sig.4_Missense_Mutation_p.S1715F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.S1760F|DYSF_uc010fee.3_Missense_Mutation_p.S1750F|DYSF_uc010fef.3_Missense_Mutation_p.S1767F|DYSF_uc002sie.3_Missense_Mutation_p.S1729F|DYSF_uc010feo.3_Missense_Mutation_p.S1761F|DYSF_uc010fej.3_Missense_Mutation_p.S1737F|DYSF_uc010fel.3_Missense_Mutation_p.S1716F|DYSF_uc010fem.3_Missense_Mutation_p.S1751F|DYSF_uc002sif.3_Missense_Mutation_p.S1730F|DYSF_uc010fek.3_Missense_Mutation_p.S1747F|DYSF_uc010yqy.2_Missense_Mutation_p.S610F|DYSF_uc010yqz.2_Missense_Mutation_p.S490F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1729			R -> W (in LGMD2B and proximodistal myopathy; uncetain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAAGAATATTCCATTGAAGAG	0.532000														61			15		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50960763	50960763	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50960763C>T	uc009xog.3	-	2	514	c.480G>A	c.(478-480)caG>caA	p.Q160Q	OGDHL_uc001jie.3_Silent_p.Q133Q|OGDHL_uc010qgt.2_Silent_p.Q76Q|OGDHL_uc010qgu.2_5'UTR|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	133					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGGGGTCCAGCTGGGCCACAT	0.607000														80			12		0	0	1	0	0
FTSJD2	23070	broad.mit.edu	37	6	37411833	37411833	+	Silent	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37411833T>G	uc003ons.3	+	2	445	c.192T>G	c.(190-192)tcT>tcG	p.S64S	FTSJD2_uc010jwu.2_Silent_p.S64S	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	64					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AACACAGCTCTGACTCTTTTG	0.428000														60			10		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118477254	118477254	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118477254C>T	uc010oxe.1	+	2	396	c.330C>T	c.(328-330)atC>atT	p.I110I	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	110						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAGCAGCTATCACTACCTTGA	0.483000														67			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167831	140167831	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140167831G>A	uc003lhb.2	+	0	1956	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.K652K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	663	Cadherin 6.				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)			TGCTAGTGAAGGATCACGGTG	0.657000														48			9		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23895018	23895018	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23895018G>A	uc001wjx.3	-	19	2278	c.2172C>T	c.(2170-2172)atC>atT	p.I724I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	724	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGGGTTCAGGATGCGATACC	0.547000														60			4		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072438	234072438	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234072438C>T	uc010zmo.2	+	10	1392	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	INPP5D_uc010zmp.2_Silent_p.I412I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	442					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)		CGGACTACATCCCCCATGACA	0.557000														113			40		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480946	20480946	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20480946G>A	uc010bwe.3	+	4	740	c.501G>A	c.(499-501)gtG>gtA	p.V167V	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.V88V|ACSM2A_uc002dhf.4_Silent_p.V167V|ACSM2A_uc002dhg.4_Silent_p.V167V|ACSM2A_uc010vay.2_Silent_p.V88V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	167					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCAAGAAGTGGACACAGTGG	0.453000														54			9		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067856	190067856	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:190067856C>T	uc001gse.1	-	7	1825	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	FAM5C_uc010pot.1_Silent_p.K429K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	531						extracellular region		p.R530C(1)		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)					GGAGCATCCGCTTACGCCAGG	0.433000														89			9		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110456	7110456	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:7110456C>T	uc001mfc.2	+	0	292	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	35	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.V35V(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCGCATCGTCGAGGTGCTCC	0.597000														11			4		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979003	979003	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:979003C>T	uc001ack.2	+	8	1739	c.1689C>T	c.(1687-1689)gcC>gcT	p.A563A		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	563	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.L562L(1)		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)		TGGCTTTGGCCCAGCCCGTGT	0.687000														70			17		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410379	100410379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100410379G>A	uc003uwn.1	-	11	2599	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	EPHB4_uc003uwm.1_Missense_Mutation_p.S610F|EPHB4_uc010lhj.1_Missense_Mutation_p.S703F	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	703	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.D702N(1)		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)					CCGCAGGAAGGAGTCCAGGGC	0.607000														40			5		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124364289	124364289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124364289G>A	uc001uft.4	+	48	8246	c.8221G>A	c.(8221-8223)Gga>Aga	p.G2741R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2741					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGCACGAAGGAGAACCACG	0.532000														215			14		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583528	7583528	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7583528C>T	uc003mxp.1	+	23	6312	c.6033C>T	c.(6031-6033)ttC>ttT	p.F2011F	DSP_uc003mxq.1_Silent_p.F1412F|DSP_uc021yle.1_Silent_p.F1568F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2011	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAGCCATTCCTTCGGGGTG	0.453000														45			5		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101340338	101340338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:101340338C>T	uc004ays.3	-	1	798	c.338G>A	c.(337-339)gGg>gAg	p.G113E		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	113					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.G113G(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCTTTCAACCCTTTTGCGTT	0.473000														43			5		0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48212929	48212929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48212929G>A	uc002iqh.4	-	9	2368	c.2365C>T	c.(2365-2367)Ctc>Ttc	p.L789F		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	795	Interacts with TGN38 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TTGTCCAGGAGCTTGTCCATC	0.637000														13			4		0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91146873	91146873	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91146873A>T	uc001xyp.3	-	7	1079	c.957T>A	c.(955-957)ttT>ttA	p.F319L	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	319							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTTGAGGACAAAAAATGCTGC	0.358000														34			5		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12460289	12460290	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12460289_12460290CC>AT	uc001atv.3	+	60	11827_11828	c.11686_11687CC>AT	c.(11686-11688)ccc>ATc	p.P3896I	VPS13D_uc001atw.3_Missense_Mutation_p.P3871I|VPS13D_uc001atx.3_Missense_Mutation_p.P3083I|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3895					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTATGTGACTCCCCTGAGCAAT	0.515000														75			12		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791884	169791884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:169791884C>T	uc002ueo.1	-	22	2992	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	ABCB11_uc010zda.1_Missense_Mutation_p.E398K|ABCB11_uc010zdb.1_Missense_Mutation_p.E432K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	956	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AACCGCCTCTCCTTTCCAATT	0.443000														63			18		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23856860	23856860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23856860C>T	uc001wjv.3	-	31	4599	c.4528G>A	c.(4528-4530)Gaa>Aaa	p.E1510K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1510					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCGAGATTTCCTCTGGGGAC	0.582000														59			5		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15131353	15131353	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15131353G>A	uc002nae.2	+	2	855	c.756G>A	c.(754-756)ctG>ctA	p.L252L		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	252					microtubule cytoskeleton organization	microtubule		p.P251L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ACCAGCCTCTGGACAAGGTTC	0.632000														46			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13729599C>T	uc003jfd.2	-	68	11874	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L	DNAH5_uc003jfc.2_Silent_p.L112L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3944					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)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome					32			6		0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424185	2424185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2424185C>T	uc021qcg.1	+	0	322	c.322C>T	c.(322-324)Cca>Tca	p.P108S	TSSC4_uc001lwi.3_Missense_Mutation_p.P44S|TSSC4_uc001lwk.3_Missense_Mutation_p.P108S|TSSC4_uc001lwl.3_Missense_Mutation_p.P108S	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	108										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACGGGCTCCATCCTCTGT	0.657000														385			67		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70534928	70534928	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70534928G>A	uc002ezc.3	-	8	1139	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	COG4_uc002ezd.3_Silent_p.F376F|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Silent_p.F70F	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	372					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCTTCTTGAGGAAGCGTAAGT	0.488000														63			9		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51690900	51690900	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51690900C>T	uc001ryg.3	-	7	703	c.651G>A	c.(649-651)agG>agA	p.R217R	BIN2_uc009zlz.3_Silent_p.R185R|BIN2_uc001ryh.3_Silent_p.R93R|BIN2_uc010sng.2_Silent_p.R191R	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	217	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGAAGACATCCCTCAAGTTGG	0.433000														46			8		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141331012	141331012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:141331012C>T	uc011chi.2	-	4	474	c.256G>A	c.(256-258)Gag>Aag	p.E86K	CLGN_uc003iii.3_Missense_Mutation_p.E86K	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	86					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GAAATTTCCTCATCCATGTCA	0.274000														56			5		0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115152029	115152029	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:115152029G>A	uc003krg.3	-	0	377	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	22					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.L22P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGCCGGCAAAGAGCTGGTGCA	0.612000														155			7		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336826	127336826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127336826C>T	uc003ejp.3	+	11	1972	c.1915C>T	c.(1915-1917)Ccc>Tcc	p.P639S	MCM2_uc011bkm.2_Missense_Mutation_p.P509S|MCM2_uc010hsl.3_Intron|MCM2_uc011bkn.2_Missense_Mutation_p.P592S	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	639	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GCGCTACGACCCCTCGCTGAC	0.597000														22			4		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19448000	19448001	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19448000_19448001CC>TT	uc002nmk.4	+	3	421_422	c.382_383CC>TT	c.(382-384)ccg>TTg	p.P128L		NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	128					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCAGCAAAGCCGCTGCTGCGG	0.530000														27			5		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100383691	100383691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100383691G>A	uc003uwj.3	+	37	7069	c.6904G>A	c.(6904-6906)Gac>Aac	p.D2302N	ZAN_uc003uwk.3_Missense_Mutation_p.D2302N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.D353N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2303	VWFC 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCAGTGCGGGGACTTCCGATG	0.582000														74			6		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38783842	38783842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38783842C>T	uc003ciq.3	-	12	2046	c.2046G>A	c.(2044-2046)atG>atA	p.M682I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	682					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTCCATGGCCATGAAGATGG	0.552000														55			8		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118773327	118773327	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118773327G>A	uc001pug.3	-	5	2090	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	BCL9L_uc009zal.3_Silent_p.P370P	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	375	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGCAGGGCCGGGGGCACTGC	0.692000														51			5		0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089541	113089541	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113089541T>G	uc002thq.1	+	11	3440	c.3046T>G	c.(3046-3048)Tct>Gct	p.S1016A		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	1016							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AACTAGCAATTCTGGTTCCGG	0.502000														21			3		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445423	49445423	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49445423G>A	uc001rta.4	-	9	2043	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	681	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGTGGAGGGGACGTGGGAG	0.662000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				68			7		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55229227	55229227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:55229227C>T	uc003tqk.3	+	12	1780	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	EGFR_uc003tqi.3_Missense_Mutation_p.P512S|EGFR_uc003tqj.3_Missense_Mutation_p.P512S|EGFR_uc022adm.1_Missense_Mutation_p.P512S|EGFR_uc010kzg.2_Missense_Mutation_p.P467S|EGFR_uc022adn.1_Missense_Mutation_p.P467S|EGFR_uc011kco.2_Missense_Mutation_p.P459S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	512					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTGTGCTCCCCCGAGGGCTG	0.662000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				108			10		0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93530766	93530766	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:93530766G>A	uc001pem.4	+	7	1484	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	403					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGGCCACAAGAGAATGAGAC	0.368000														38			4		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108047	95108047	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95108047C>T	uc001ydt.3	+	1	652	c.564C>T	c.(562-564)ccC>ccT	p.P188P						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						GGCAGGGTCCCCGGCTCCTCC	0.627000														89			13		0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905403	905403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:905403G>A	uc010dkg.3	+	1	135	c.16G>A	c.(16-18)Gga>Aga	p.G6R	ADCYAP1_uc010dkh.3_Missense_Mutation_p.G6R	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	6					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.G6R(2)|p.S5R(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CATGTGTAGCGGAGCGAGGCT	0.617000														88			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182037	34182037	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34182037C>T	uc001bxm.1	-	19	3243	c.3066G>A	c.(3064-3066)gaG>gaA	p.E1022E	CSMD2_uc001bxn.1_Silent_p.E982E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	982	CUB 6.					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)				AGCTGCCGTTCTCAGTGATGA	0.582000														53			4		0	0	1	0	0
GLT25D1	79709	broad.mit.edu	37	19	17679497	17679497	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17679497C>T	uc002nhc.1	+	4	816	c.804C>T	c.(802-804)gtC>gtT	p.V268V	GLT25D1_uc010eax.1_Silent_p.V36V	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	268					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						ACATCATCGTCTTTGCCTTCT	0.567000														32			5		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421878	105421878	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105421878G>A	uc010axc.1	-	4	528	c.408C>T	c.(406-408)atC>atT	p.I136I	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.I36I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	136	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTGACGAAGATCCCCTGGT	0.582000														65			10		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925990	25925990	+	Silent	SNP	G	A	A	rs142515299		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25925990G>A	uc010ayu.3	-	18	3751	c.3645C>T	c.(3643-3645)ttC>ttT	p.F1215F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1215					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTGGAGCAGGAAAGTGAGCA	0.562000														114			6		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96944950	96944950	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96944950G>A	uc001yfn.2	+	14	1748	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	568					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TCGACGATGAGACTGTCTTCA	0.468000														63			4		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524243	37524243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37524243G>A	uc003aqv.1	-	9	1680	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	517					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCCTGCCCAGGAGGCCTGGAC	0.632000														54			11		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344697	50344697	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50344697C>T	uc001rvn.3	+	0	174	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	28			L -> P (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TCTTTGGCCTCGGCTCTGCCC	0.617000														64			5		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902994	60902994	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60902994G>A	uc002ycq.3	-	35	4792	c.4725C>T	c.(4723-4725)cgC>cgT	p.R1575R	LAMA5_uc021wfw.1_Silent_p.R1575R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1575	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R1575H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCACAGGGGCGGCAGCGGG	0.687000														78			6		0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547731	125547731	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:125547731C>G	uc001qcs.3	-	1	632	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	ACRV1_uc001qcl.3_Missense_Mutation_p.E102Q|ACRV1_uc001qcn.3_Missense_Mutation_p.E117Q|ACRV1_uc001qcr.3_Intron	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	172	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GAAGCCTGTTCCCCTGAAGCG	0.542000														33			9		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129293293	129293293	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129293293G>A	uc003emx.2	-	11	2671	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	857					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCAGGCACTGGGAACAGTCGG	0.687000														28			5		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463769	241463769	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241463769G>A	uc010fzd.1	-	7	1490	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ANKMY1_uc002vzb.1_Silent_p.I225I|ANKMY1_uc002vzc.1_Silent_p.I225I|ANKMY1_uc002vyz.1_Silent_p.I366I|ANKMY1_uc002vza.1_Silent_p.I225I|ANKMY1_uc002vzd.1_Silent_p.I225I|ANKMY1_uc010fze.2_Silent_p.I35I|ANKMY1_uc002vze.3_Silent_p.I127I	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	366				N -> D (in Ref. 4; CAB66553).			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)		ATGATGAAAGGATTGGAACAA	0.448000														49			6		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484011	60484011	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60484011T>G	uc010wpc.2	+	8	886	c.815T>G	c.(814-816)tTt>tGt	p.F272C	EFCAB3_uc002izu.2_Missense_Mutation_p.F220C	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	220							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGGATTTATTTAAATTTCTT	0.388000														13			5		0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241516008	241516008	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241516008C>T	uc002vzi.3	+	8	1567	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	RNPEPL1_uc002vzj.3_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	292					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)		TGAGCCGGACCTGTCTCAGGG	0.667000														45			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999555	8999555	+	Silent	SNP	C	T	T	rs143160605	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8999555C>T	uc002mkp.3	-	55	40824	c.40620G>A	c.(40618-40620)aaG>aaA	p.K13540K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.K357K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13542	SEA 10.			Missing (in Ref. 3; AAK74120).	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						CTGCCCCATCCTTCTTGGGCC	0.602000														20			9		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680069	73680069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73680069C>T	uc002sje.1	+	7	6523	c.6412C>T	c.(6412-6414)Cct>Tct	p.P2138S	ALMS1_uc002sjf.1_Missense_Mutation_p.P2096S|ALMS1_uc002sjg.3_Missense_Mutation_p.P1526S|ALMS1_uc002sjh.1_Missense_Mutation_p.P1526S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2138	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACAGCTCTTCCTAGTTCCTT	0.413000														17			8		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68177503	68177503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68177503G>A	uc001ont.3	+	9	2288	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E	LRP5_uc009ysg.3_Missense_Mutation_p.G148E	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	738	Beta-propeller 3.				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						GCCGACACTGGGACCAACAGA	0.637000														68			8		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545696	179545696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:179545696C>T	uc003mlq.3	-	8	1293	c.996G>A	c.(994-996)atG>atA	p.M332I	RASGEF1C_uc003mlr.3_Missense_Mutation_p.M332I|RASGEF1C_uc003mlp.4_Missense_Mutation_p.M181I	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	332	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGTTGGGTCCATCTGGTGCT	0.662000														90			10		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157289	75157289	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:75157289C>T	uc003yae.3	-	3	1420	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	JPH1_uc003yaf.3_Silent_p.T460T|JPH1_uc003yag.1_Silent_p.T324T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	460					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)			TTGGGGGTGTCGTGCCTTTGC	0.507000														91			15		0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33440071	33440071	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33440071G>A	uc002xay.3	-	11	1517	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	GGT7_uc010gex.3_5'Flank|GGT7_uc002xaz.1_Silent_p.L509L	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	492					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGCTGGTTCAGGGAGCTGGGG	0.637000														58			7		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3117819	3117819	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3117819C>T	uc021xkv.1	+	7	1042	c.897C>T	c.(895-897)ctC>ctT	p.L299L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	299					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGCTTACTCGTTCCTGTCG	0.498000														122			12		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220542	67220542	+	Missense_Mutation	SNP	G	A	A	rs145228772		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67220542G>A	uc002erx.1	-	7	1544	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	KIAA0895L_uc002ert.3_5'Flank|KIAA0895L_uc002eru.3_5'Flank|EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Missense_Mutation_p.R86C|EXOC3L1_uc010vje.1_Missense_Mutation_p.R332C|EXOC3L1_uc002ery.1_Missense_Mutation_p.R337C	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	435					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGGCCACACGAATGTTCTCT	0.582000														73			6		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017384	93017384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:93017384G>A	uc022axs.1	-	5	1064	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	RUNX1T1_uc003yfc.2_Missense_Mutation_p.L207F|RUNX1T1_uc010mam.3_Missense_Mutation_p.L207F|RUNX1T1_uc003yfe.2_Missense_Mutation_p.L197F|RUNX1T1_uc003yfd.3_Missense_Mutation_p.L234F|RUNX1T1_uc022axo.1_Missense_Mutation_p.L234F|RUNX1T1_uc010mao.3_Missense_Mutation_p.L207F|RUNX1T1_uc011lgi.2_Missense_Mutation_p.L245F|RUNX1T1_uc022axp.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axq.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axr.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axt.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axu.1_Missense_Mutation_p.L214F|RUNX1T1_uc022axv.1_Missense_Mutation_p.L234F|RUNX1T1_uc003yfb.2_Missense_Mutation_p.L197F|RUNX1T1_uc003yff.1_Missense_Mutation_p.L197F	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	234	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCACATCGAGAAGCAGCTCT	0.557000														50			6		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768829	121768829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:121768829C>T	uc003pyr.3	+	1	1086	c.836C>T	c.(835-837)tCg>tTg	p.S279L	GJA1_uc011ebo.1_Missense_Mutation_p.S180L|GJA1_uc011ebp.1_Missense_Mutation_p.S67L|GJA1_uc021zel.1_Missense_Mutation_p.S279L	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	279					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.S279L(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GCTCCCCTCTCGCCTATGTCT	0.507000														71			6		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143790850	143790850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:143790850C>T	uc010fnm.3	+	12	1217	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	KYNU_uc002tvl.3_Missense_Mutation_p.P334L	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	334					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTTCAAATCCTCCCATTTTG	0.378000														95			18		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72050249	72050249	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72050249G>A	uc002atb.1	+	13	2503	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	THSD4_uc002ate.2_Silent_p.A448A|THSD4_uc002atg.1_Silent_p.A11A	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	808	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGTGCTCAGCGGAGTGTGGGG	0.607000														54			14		0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52433395	52433395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52433395G>A	uc002abt.1	-	6	634	c.569C>T	c.(568-570)tCt>tTt	p.S190F	GNB5_uc002abr.1_Missense_Mutation_p.S148F|GNB5_uc002abs.1_Intron	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	190						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CATAGCAACAGACTTCTTTTT	0.473000														52			5		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997830	66997830	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:66997830C>T	uc002eqt.3	+	3	631	c.552C>T	c.(550-552)ggC>ggT	p.G184G	CES3_uc010cdz.3_Silent_p.G184G	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	184						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGTCCTTGGCTTCTTCAGGT	0.607000														65			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424606	110424606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110424606G>A	uc003yne.3	+	19	2302	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	733					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAAACAGACGACCATATGGA	0.368000										HNSCC(38;0.096)				13			3		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32751115	32751115	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32751115G>A	uc001bux.3	+	13	1466	c.1328_splice	c.e13-1	p.G443_splice	LCK_uc001buy.3_Splice_Site_p.G443_splice|LCK_uc001buz.3_Splice_Site_p.G473_splice|LCK_uc001bva.3_Splice_Site_p.G450_splice	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	443	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CAACCCGTAGGGATGACCAAC	0.547000			T	TRB@	T-ALL									98			14		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649663	150649663	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150649663G>A	uc003wic.3	-	5	1808	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	KCNH2_uc003wib.3_Silent_p.I129I|KCNH2_uc011kux.2_Silent_p.I373I|KCNH2_uc003wid.3_Silent_p.I129I|KCNH2_uc003wie.3_Silent_p.I469I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	469					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.L468F(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGCGGAAGTTGATGAGGATGT	0.607000														92			20		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998311	10998311	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:10998311C>T	uc002yis.1	-	10		c.1942G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTGATTTTCCATCACAATC	0.363000														60			8		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201356	166201356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166201356G>A	uc002udc.3	+	15	3144	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	SCN2A_uc002udd.3_Missense_Mutation_p.E952K|SCN2A_uc002ude.3_Missense_Mutation_p.E952K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	952					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGACTGTATGGAGGTCGCTGG	0.468000														67			12		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230895368	230895368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:230895368C>T	uc001htz.1	+	2	507	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Missense_Mutation_p.H132Y	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	132	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGGGATATTCCATTTCCAGGT	0.557000														21			6		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10406151	10406151	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10406151C>T	uc002gmo.3	-	23	3109	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1005						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGGTGGGCCTCCTGGAGAG	0.488000														72			9		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486685	36486685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36486685C>T	uc002hpz.3	-	10	2788	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	923						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCTAGCCTCCTCATGAAGC	0.642000														14			3		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489539	42489539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42489539G>A	uc002osh.3	-	6	797	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	ATP1A3_uc010xwf.2_Nonsense_Mutation_p.Q226*|ATP1A3_uc010xwg.2_Nonsense_Mutation_p.Q185*|ATP1A3_uc002osg.3_Nonsense_Mutation_p.Q215*|ATP1A3_uc010xwh.2_Nonsense_Mutation_p.Q228*			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	215					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						GAGCGAGTCTGGGGCTCGGAT	0.587000														66			6		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418802	17418802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17418802C>T	uc001mnc.3	-	31	4052	c.3926G>A	c.(3925-3927)gGg>gAg	p.G1309E		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1309					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTTCACAGCCCCCAGCTGGAG	0.612000														129			22		0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599490	22599490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22599490G>A	uc002zvx.1	+	1	205	c.179G>A	c.(178-180)aGg>aAg	p.R60K	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	60	Framework-2.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TACCAGCAGAGGCCGGGCCAC	0.602000														88			25		0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70330370	70330370	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70330370T>C	uc004dyw.2	-	2	530	c.438A>G	c.(436-438)ctA>ctG	p.L146L	IL2RG_uc004dyv.2_5'Flank|IL2RG_uc004dyx.2_Intron	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	146					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TCTGCAGTTTTAGCATCTGTG	0.468000									Severe Combined Immunodeficiency, X-linked					48			5		0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50521574	50521574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50521574G>A	uc003bjg.1	-	2	479	c.206C>T	c.(205-207)tCg>tTg	p.S69L	MLC1_uc011arl.1_Missense_Mutation_p.S69L|MLC1_uc003bjh.1_Missense_Mutation_p.S69L|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_5'UTR|MLC1_uc011aro.1_Missense_Mutation_p.S69L	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	69						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CAGGTACAGCGAAAACCCCGA	0.607000														72			6		0	0	1	0	0
C2orf18	54978	broad.mit.edu	37	2	27001361	27001361	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27001361C>T	uc002rhp.1	+	5	1174	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	C2orf18_uc002rhq.1_Silent_p.P283P|C2orf18_uc010eyo.1_Silent_p.P313P|C2orf18_uc010ylc.1_Silent_p.P219P	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	366						integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCACTCCCATCAATGATG	0.667000														21			10		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956149	55956149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55956149C>T	uc003has.3	-	22	3468	c.3166G>A	c.(3166-3168)Gat>Aat	p.D1056N	KDR_uc003hat.1_Missense_Mutation_p.D1056N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1056	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAATCTGGATCTTTATAAATA	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				22			5		0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74075362	74075362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74075362C>T	uc002jqn.2	+	0	100	c.17C>T	c.(16-18)tCc>tTc	p.S6F	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	6					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCCTATGGTCCCTGCTCCAT	0.582000														25			4		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513553	165513553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165513553C>T	uc001gde.2	+	0	76	c.20C>T	c.(19-21)cCt>cTt	p.P7L	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	7						integral to membrane		p.G6C(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCTTCAGGCCCTGGCCCTGGG	0.547000														70			4		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183711	55183711	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:55183711C>T	uc010wnl.2	+	2	1168	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	AKAP1_uc002iux.3_Nonsense_Mutation_p.Q296*|AKAP1_uc021uak.1_Nonsense_Mutation_p.Q296*|AKAP1_uc010dcm.3_Nonsense_Mutation_p.Q296*|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	296					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGCCAAAGCCCAGGATAGAGG	0.547000														93			9		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075690	145075690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145075690C>T	uc001elo.3	-	0	497	c.173G>A	c.(172-174)gGg>gAg	p.G58E	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Missense_Mutation_p.G58E|PDE4DIP_uc001emk.3_Non-coding_Transcript	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA.	725					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)		TGCCCAGCTCCCGGCTGGCTC	0.721000			T	PDGFRB	MPD									103			7		0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11889433	11889433	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:11889433T>C	uc002kqf.3	-	4	1243	c.447A>G	c.(445-447)gtA>gtG	p.V149V	MPPE1_uc002kqg.3_Non-coding_Transcript|MPPE1_uc002kqh.3_Non-coding_Transcript|MPPE1_uc002kqi.3_Non-coding_Transcript|MPPE1_uc002kqn.3_Silent_p.V149V|MPPE1_uc002kqm.3_Silent_p.V149V|MPPE1_uc010dla.2_Silent_p.V149V	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA.	149					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTTCAGCTGTACATGACTTG	0.468000														56			7		0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672311	61672311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61672311G>A	uc001nso.3	-	5	859	c.701C>T	c.(700-702)tCc>tTc	p.S234F	RAB3IL1_uc001nsp.3_Missense_Mutation_p.S208F	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	Homo sapiens RAB3A interacting protein (rabin3)-like 1 (RAB3IL1), mRNA.	234							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CAGGGTGGGGGATTCCCTCCA	0.632000														70			9		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200950209	200950209	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200950209C>T	uc001gvs.2	-	28	4175	c.3858G>A	c.(3856-3858)ccG>ccA	p.P1286P	KIF21B_uc009wzl.2_Silent_p.P1286P|KIF21B_uc001gvr.2_Silent_p.P1273P|KIF21B_uc010ppn.2_Silent_p.P1273P	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1286					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						CTCCTCCAACCGGGGAGATGA	0.637000														57			9		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228464218	228464218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228464218G>A	uc009xez.1	+	21	6332	c.6288G>A	c.(6286-6288)atG>atA	p.M2096I	OBSCN_uc001hsn.3_Missense_Mutation_p.M2096I|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2096	Ig-like 21.				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)				CGGCTACCATGGAGGTGCAGC	0.706000														62			8		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564004	139564004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:139564004C>T	uc021zfy.1	-	9	1879	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	572						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GAGGGAGGTTCAGCATCACTG	0.597000														61			6		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150661	128150661	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:128150661C>T	uc011ebt.2	-	2	818	c.669G>A	c.(667-669)ctG>ctA	p.L223L	THEMIS_uc010kfa.3_Silent_p.L126L|THEMIS_uc021zfa.1_Silent_p.L223L|THEMIS_uc010kfb.3_Silent_p.L188L	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	223	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTGAGAATCAGGGTACCAT	0.373000														48			5		0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2515531	2515531	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:2515531C>T	uc003gfb.3	+	7	906	c.558C>T	c.(556-558)caC>caT	p.H186H	RNF4_uc010icj.3_3'UTR|RNF4_uc003gfc.3_Silent_p.H186H	NM_002938	NP_002929	P78317	RNF4_HUMAN	Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNA.	186					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	PML body|cytoplasm	DNA binding|SUMO polymer binding|androgen receptor binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.H220Q(1)		endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				AACGGTACCACCCCATTTATA	0.488000														90			4		0	0	1	0	0
SLC25A26	115286	broad.mit.edu	37	3	66428150	66428150	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:66428150C>T	uc011bfq.2	+	10	1472	c.744C>T	c.(742-744)atC>atT	p.I248I	SLC25A26_uc011bfs.2_Silent_p.I160I|SLC25A26_uc011bft.2_Non-coding_Transcript	NM_173471	NP_001158268	Q70HW3	SAMC_HUMAN	Homo sapiens solute carrier family 25, member 26 (SLC25A26), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	248						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TGGCAGCCATCAGTCTGGGAG	0.443000														148			11		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43269689	43269689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43269689C>T	uc002ouo.2	-	0	143	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Nonsense_Mutation_p.W15*|PSG8_uc010ein.3_Nonsense_Mutation_p.W15*|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	15						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGAGCCCCTTCCAGGTGATGC	0.587000														70			6		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778920	31778920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31778920G>A	uc003nxh.3	-	1	1013	c.830C>T	c.(829-831)tCg>tTg	p.S277L	HSPA1L_uc010jte.3_Missense_Mutation_p.S277L|HSPA1L_uc021yuz.1_Missense_Mutation_p.S277L	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	277					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGCTGGACGACAGGGTCCT	0.527000														402			79		0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37145462	37145462	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:37145462C>T	uc001wty.4	+	4	1557	c.831C>T	c.(829-831)taC>taT	p.Y277Y	PAX9_uc010amq.3_Non-coding_Transcript	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	277					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		TGGCTCCTTACCCTACCCCAG	0.502000														74			5		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063691	7063691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:7063691G>A	uc001mfb.1	+	3	757	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	145					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCTTTGGCTGGAAAGCCTGAA	0.393000														32			4		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684049	109684049	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109684049C>T	uc001tob.3	+	38	5486	c.5367C>T	c.(5365-5367)atC>atT	p.I1789I	ACACB_uc001toc.3_Silent_p.I1789I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.I455I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1789					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)	GGGATGTGATCGTCATCGGCA	0.552000														92			9		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48138108	48138108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48138108G>A	uc002efc.1	-	19	3191	c.2845C>T	c.(2845-2847)Cct>Tct	p.P949S	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	949	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGACAGCAGGAAACACAGCA	0.478000														39			6		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30745866	30745866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30745866C>T	uc002dze.1	+	30	7044	c.6659C>T	c.(6658-6660)tCa>tTa	p.S2220L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2015L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2220					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)			CCTTCTAGCTCATCCGTGCCC	0.498000														134			13		0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125883	8125883	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:8125883C>T	uc003srk.3	+	7	1918	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	453										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGGTTAATTTCATCCCAACCG	0.433000														135			8		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3969754	3969754	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3969754G>A	uc002fxe.3	-	27	4300	c.4236C>T	c.(4234-4236)aaC>aaT	p.N1412N	ZZEF1_uc002fxi.3_5'Flank|ZZEF1_uc002fxj.1_Silent_p.N25N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1412							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCTCTCAGGGTTCACCTCAG	0.463000														147			7		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654184	46654184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46654184C>T	uc003bhh.3	-	0	5036	c.5036G>A	c.(5035-5037)cGa>cAa	p.R1679Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1679					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCTCGGATTCGGACGATCTG	0.423000														59			8		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467119	44467119	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44467119G>A	uc001cll.3	-	8	1554	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	SLC6A9_uc009vxe.2_Silent_p.S310S|SLC6A9_uc010okm.1_Silent_p.S381S|SLC6A9_uc001clm.3_Silent_p.S400S|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.S385S|SLC6A9_uc010oko.2_Silent_p.S270S|SLC6A9_uc001cln.3_Silent_p.S381S|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	454						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCACAGCGGGGAGATGGGAA	0.637000														49			14		0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484171	152484171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152484171C>T	uc021oyx.1	+	0	161	c.161C>T	c.(160-162)tCc>tTc	p.S54F	LCE5A_uc001ezy.3_Missense_Mutation_p.S54F|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	54	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTTCCAGCTCTGGG	0.642000														58			5		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153693442	153693442	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153693442C>T	uc004flm.3	+	10	2298	c.2125C>T	c.(2125-2127)Cta>Tta	p.L709L		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	709					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTAAGAACCTACCTCAGCC	0.647000														19			3		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490067	100490067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100490067C>T	uc003uxd.3	-	1	1597	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	UFSP1_uc003uxc.4_5'Flank|ACHE_uc003uxe.3_Missense_Mutation_p.E481K|ACHE_uc003uxf.3_Missense_Mutation_p.E481K|ACHE_uc003uxg.3_Missense_Mutation_p.E481K|ACHE_uc003uxh.3_Missense_Mutation_p.E393K|ACHE_uc003uxi.3_Missense_Mutation_p.E481K	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	481					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AACTCGATCTCGTAGCCGTGG	0.612000														51			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140864861	140864861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140864861G>A	uc003lky.2	+	0	121	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.E41K	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	41	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)			GGAGTCACAGGAAGGGACTTT	0.547000														58			12		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552266	43552266	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43552266G>A	uc001zrd.2	-	2	428	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	140					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACCAGGGATTGAAAAGCAGGA	0.602000														49			4		0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36478149	36478149	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36478149C>T	uc002hpy.3	+	6	962	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA.	267					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGATCGTTCCCCCATGGGCAC	0.512000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			5		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804332	125804332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125804332G>A	uc001lhn.3	-	2	1384	c.650C>T	c.(649-651)tCc>tTc	p.S217F	CHST15_uc001lhm.3_Missense_Mutation_p.S217F|CHST15_uc010que.2_Missense_Mutation_p.S217F|CHST15_uc001lho.3_Missense_Mutation_p.S217F	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	217					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAGCACGTAGGAGTTGGTGAG	0.602000														35			7		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643849	121643849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121643849C>T	uc003eep.2	+	12	1246	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	SLC15A2_uc011bjn.1_Missense_Mutation_p.R334C	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	365					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTCATTTATCGTCTGGTCTC	0.368000														81			14		0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193638	7193638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7193638G>A	uc002gfq.2	-	4	733	c.676C>T	c.(676-678)Cca>Tca	p.P226S		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	226	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AAGAAGGGTGGGGGGCACCAT	0.652000														156			16		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969712	200969712	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200969712G>A	uc001gvs.2	-	10	1808	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	KIF21B_uc009wzl.2_Silent_p.A497A|KIF21B_uc001gvr.2_Silent_p.A497A|KIF21B_uc010ppn.2_Silent_p.A497A	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	497					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						ACTCGTTCATGGCTTCACTCT	0.682000														57			8		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173470236	173470236	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:173470236A>G	uc001giz.2	-	28	3795	c.3372_splice	c.e28-1	p.S1124_splice	SLC9C2_uc009wwe.2_Splice_Site_p.S682_splice	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	1124					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCAGTTTTCAACTATAAAAGA	0.299000														14			4		0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43827616	43827616	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:43827616C>T	uc010kxv.3	+	3	303	c.126C>T	c.(124-126)ttC>ttT	p.F42F	BLVRA_uc003tir.3_Silent_p.F42F	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	42					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	p.G41G(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGATTGGCTTCGTGTCGAGGT	0.562000														96			28		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71743079	71743079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71743079G>A	uc003kce.1	-	3	1876	c.1690C>T	c.(1690-1692)Cat>Tat	p.H564Y		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCTTGGGAATGAAGGCCCCGC	0.502000														51			5		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554093	150554093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150554093G>A	uc003why.1	+	2	4753	c.535G>A	c.(535-537)Gac>Aac	p.D179N	ABP1_uc003whz.1_Missense_Mutation_p.D179N|ABP1_uc003wia.1_Missense_Mutation_p.D179N	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	179					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)	AGACTGCCATGACAGATGCCT	0.567000														56			6		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072850	17072850	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17072850G>A	uc002zlp.1	-	0	851	c.591C>T	c.(589-591)agC>agT	p.S197S		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	197					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.S197G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGCTTGAAGCTGCCGTCTA	0.617000														81			19		0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89868145	89868145	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:89868145C>T	uc003pmz.3	+	4	1109	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	338							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GAATAGAGTTCATTTCAGAAG	0.333000														42			6		0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27676943	27676943	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27676943G>A	uc001bnw.2	+	9	1169	c.972G>A	c.(970-972)cgG>cgA	p.R324R	SYTL1_uc001bnv.2_Silent_p.R312R|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.2_Silent_p.R324R	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	324	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAAGAAACGGAATCTGAATC	0.597000														52			12		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994842	140994842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140994842G>A	uc004fbt.3	+	3	1976	c.1652G>A	c.(1651-1653)aGc>aAc	p.S551N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S210N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	551							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)					TTTCCTCAGAGCCCTCCTCAG	0.562000										HNSCC(15;0.026)				99			44		0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342352	122342352	+	Silent	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:122342352G>C	uc003vkk.1	-	0	670	c.453C>G	c.(451-453)gtC>gtG	p.V151V	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	151	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCATCACCGCGACTATATTTT	0.463000														44			6		0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44048887	44048887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:44048887G>A	uc001zsu.3	+	2	435	c.287G>A	c.(286-288)gGa>gAa	p.G96E	PDIA3_uc010bdp.3_Missense_Mutation_p.G76E|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	96	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AATAAATATGGAGTCAGTGGA	0.393000														62			6		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42811672	42811673	+	Missense_Mutation	DNP	CC	TT	TT	rs143467494	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42811672_42811673CC>TT	uc010goq.3	+	5	834_835	c.488_489CC>TT	c.(487-489)acc>aTT	p.T163I	MX1_uc002yzh.3_Missense_Mutation_p.T163I|MX1_uc002yzi.3_Missense_Mutation_p.T163I	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	163					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAGCTAATCACCCTGGAGATCA	0.500000														87			5		0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38442461	38442461	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38442461C>T	uc003cic.2	+	17	1627	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	XYLB_uc011ayp.1_Silent_p.S369S|XYLB_uc003cid.1_Silent_p.S428S	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	506					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTACCCCAAGCCCGGGAGCTT	0.493000														65			5		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756380	94756380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94756380C>T	uc001yct.3	-	1	1017	c.551G>A	c.(550-552)aGg>aAg	p.R184K	SERPINA10_uc001ycu.4_Missense_Mutation_p.R184K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	184					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATCAAAATACCTCTTGGATAA	0.443000														63			15		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099128	169099128	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169099128G>A	uc011bpj.1	-	1	625	c.222C>T	c.(220-222)atC>atT	p.I74I	MECOM_uc003ffl.2_Silent_p.I46I|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.I74I|MECOM_uc011bpl.1_Silent_p.I74I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	74							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGGAATGGGGATATCATCAG	0.473000														13			4		0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081290	53081290	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:53081290G>A	uc002aci.1	-	0	920	c.792C>T	c.(790-792)ctC>ctT	p.L264L		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	264					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTGTGCCCAGGAGTTGCCCGT	0.647000														151			7		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792924	169792924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:169792924C>T	uc002ueo.1	-	21	2756	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E	ABCB11_uc010zda.1_Missense_Mutation_p.G319E|ABCB11_uc010zdb.1_Missense_Mutation_p.G353E	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	877	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.I876I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GACTATCATCCCGATCTGAGA	0.478000														25			3		0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79984867	79984867	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79984867C>A	uc002kde.3	+	5	994	c.754C>A	c.(754-756)Cgg>Agg	p.R252R		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	252						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAGCACCTCCGGGAGGAGAA	0.637000														18			3		1	1	1	1	0
ADH1A	124	broad.mit.edu	37	4	100208036	100208036	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100208036A>G	uc003hur.2	-	2	344	c.230T>C	c.(229-231)gTt>gCt	p.V77A	LOC100507053_uc003hum.2_Non-coding_Transcript|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.V77A	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	77					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCCTTCTCCAACACTCTCCAC	0.502000														97			23		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990641	33990641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33990641G>A	uc001bxm.1	-	65	10414	c.10237C>T	c.(10237-10239)Cct>Tct	p.P3413S	CSMD2_uc001bxn.1_Missense_Mutation_p.P3269S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3269						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)				ACATCCCCAGGAACTAGAGGA	0.507000														117			37		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767979	127767979	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:127767979C>T	uc011ebs.2	-	4	1821	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*	KIAA0408_uc003qbc.3_Nonsense_Mutation_p.W495*|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Nonsense_Mutation_p.W378*	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	495							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CATTGGTTTTCCAAATACCGG	0.463000														7			4		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087345	117087345	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:117087345G>A	uc004bik.4	+	4	564	c.453G>A	c.(451-453)acG>acA	p.T151T	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	151					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	AGCCAGAGACGACCAAGGAGC	0.607000														47			15		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	19997210	19997210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:19997210C>T	uc001umd.3	-	20	1772	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E410K|TPTE2_uc001ume.3_Missense_Mutation_p.E444K|TPTE2_uc009zzm.3_Missense_Mutation_p.E192K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E192K	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	521	C2 tensin-type.			E -> K (in Ref. 1; CAD13144 and 2; AAP45146).		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)		AGTCATTTCTCGCCAAAAAGT	0.408000														25			4		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881353	228881353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228881353G>A	uc002vpq.2	-	6	4264	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1406F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1406F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1406						cytoplasm	protein binding	p.S1406F(2)|p.T1405N(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)		CTGGCACGAGGAAGTTTCTTT	0.438000														83			4		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113311	18113311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18113311G>A	uc021veh.1	+	0	1036	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	KCNS3_uc002rcv.3_Missense_Mutation_p.E346K|KCNS3_uc002rcw.3_Missense_Mutation_p.E346K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	346					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACTCCGTGGAGAAAGATGA	0.537000														73			17		0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28209046	28209046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:28209046G>A	uc003xgq.3	-	6	1287	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	ZNF395_uc003xgt.3_Missense_Mutation_p.S400F|ZNF395_uc003xgr.3_Missense_Mutation_p.S400F|ZNF395_uc003xgs.3_Missense_Mutation_p.S400F	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	400					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTGCCAGAAGGACCCAGGAGC	0.612000														107			15		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51792133	51792133	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51792133A>T	uc010ufy.2	-	17	3513	c.3288T>A	c.(3286-3288)gtT>gtA	p.V1096V	DMXL2_uc002abf.3_Silent_p.V1096V|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1096						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCTTTAGAAACAAAACCAT	0.393000														11			4		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355998	201355998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201355998C>T	uc001gwm.3	-	2	726	c.491G>A	c.(490-492)aGg>aAg	p.R164K	LAD1_uc009wzu.1_Missense_Mutation_p.R186K	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	164						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTCTGGCTCCCTGCCCACCAA	0.597000														102			10		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71275385	71275385	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:71275385G>A	uc003twb.4	-	5	985	c.594C>T	c.(592-594)atC>atT	p.I198I	CALN1_uc003twa.4_Silent_p.I156I|CALN1_uc003twc.4_Silent_p.I156I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	156						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.I156I(1)|p.I198I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATTGATAATGATGTTCTCAA	0.507000														106			12		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756380	32756380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32756380C>T	uc003amj.3	+	1	720	c.515C>T	c.(514-516)tCc>tTc	p.S172F	RFPL3_uc010gwn.3_Missense_Mutation_p.S143F|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	172	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATCCTGGGCTCCCCTCGCTTT	0.567000														84			7		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86283740	86283740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:86283740G>A	uc001dlj.3	-	45	3895	c.3820C>T	c.(3820-3822)Cct>Tct	p.P1274S	COL24A1_uc001dli.3_Missense_Mutation_p.P410S|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P574S|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1274	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCCAGAAGGACCAGGAGCT	0.408000														103			11		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983289	2983289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2983289G>A	uc001qlf.3	-	1	639	c.356C>T	c.(355-357)cCa>cTa	p.P119L	FOXM1_uc001qle.3_Missense_Mutation_p.P119L|FOXM1_uc009zea.3_Missense_Mutation_p.P119L|FOXM1_uc009zeb.3_Missense_Mutation_p.P119L|FOXM1_uc001qlg.3_Missense_Mutation_p.P119L	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	119					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCGGAGTCCTGGAGGCTGAGT	0.537000														123			7		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600050	31600050	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31600050C>T	uc003nvb.4	+	15	3849	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.G1200G	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1200	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						CTCCCACAGGCCCTTTGCCAC	0.627000														23			5		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135819	156135819	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156135819G>A	uc003ioq.3	+	1	1217	c.728G>A	c.(727-729)tGg>tAg	p.W243*	NPY2R_uc003ior.3_Nonsense_Mutation_p.W243*|NPY2R_uc021xtm.1_Nonsense_Mutation_p.W243*	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	243					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACTCGCATTTGGAGTAAATTG	0.443000														45			4		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496727	62496727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62496727G>A	uc010deh.2	-	11	1424	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	DDX5_uc002jek.2_Missense_Mutation_p.R461C|DDX5_uc002jej.2_Missense_Mutation_p.R356C|DDX5_uc010wqa.1_Missense_Mutation_p.R382C	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	461	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTAGCTTCACGAAGCACAGAG	0.423000			T	ETV4	prostate									26			5		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22028661	22028661	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:22028661C>T	uc001rfh.3	-	15	2040	c.2020_splice	c.e15-1	p.V674_splice	ABCC9_uc001rfi.1_Splice_Site_p.V674_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	674	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATTTGTGACCTACAAAATAA	0.323000														31			7		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129104486	129104486	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:129104486C>T	uc011koy.2	+	15	1723	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	FAM40B_uc003vow.3_Silent_p.I561I|FAM40B_uc011koz.2_Silent_p.I53I	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	561								p.G560A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTGGGCATCGATGTGAACA	0.478000														52			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091236	9091236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9091236C>T	uc002mkp.3	-	0	783	c.579G>A	c.(577-579)atG>atA	p.M193I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	193	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P192L(1)		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						CAAATGTTTTCATTGGAGATG	0.458000														51			12		0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105849723	105849723	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105849723C>T	uc001yqu.3	+	15	2157	c.1653C>T	c.(1651-1653)acC>acT	p.T551T	PACS2_uc001yqs.2_Silent_p.T472T|PACS2_uc001yqt.3_Silent_p.T547T|PACS2_uc001yqv.3_Silent_p.T551T	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	547					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGCCCCCGACCCCCGTGAAGA	0.647000														56			8		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130714935	130714935	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:130714935C>T	uc011bli.2	+	21	2504	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	ATP2C1_uc011blg.2_Silent_p.F736F|ATP2C1_uc011blh.2_Silent_p.F697F|ATP2C1_uc003enk.3_Silent_p.F686F|ATP2C1_uc003enl.3_Silent_p.F702F|ATP2C1_uc003enm.3_Silent_p.F702F|ATP2C1_uc003enn.3_Silent_p.F686F|ATP2C1_uc003eno.3_Silent_p.F702F|ATP2C1_uc003enp.3_Silent_p.F702F|ATP2C1_uc003ent.3_Silent_p.F702F|ATP2C1_uc003ens.3_Silent_p.F702F|ATP2C1_uc003enu.3_Silent_p.F380F	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	702					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTAAAAATTTCGTTAGATTCC	0.308000									Hailey-Hailey disease					75			14		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717955	45717956	+	Missense_Mutation	DNP	GG	AA	AA	rs139367894		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45717955_45717956GG>AA	uc002xsm.3	+	7	1113_1114	c.739_740GG>AA	c.(739-741)ggg>AAg	p.G247K	EYA2_uc010ghp.3_Missense_Mutation_p.G247K|EYA2_uc002xsq.3_Missense_Mutation_p.G247K	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	247					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGCCTCCGACGGGAAGCTCCGA	0.579000														76			10		0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74041646	74041646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74041646C>T	uc001xon.4	+	2	1054	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ACOT2_uc010tuc.2_Missense_Mutation_p.S232F|ACOT2_uc001xom.3_Missense_Mutation_p.S97F	NM_006821	NP_006812	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 2 (ACOT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	294					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTTGGAATTTCCAAAGGGGGT	0.498000														92			8		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554581	150554581	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150554581C>T	uc003why.1	+	2	5241	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ABP1_uc003whz.1_Silent_p.F341F|ABP1_uc003wia.1_Silent_p.F341F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	341					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)	ACGTGCACTTCGGCGGAGAGC	0.632000														56			9		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123775763	123775763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123775763C>T	uc010nqy.3	-	10	2019	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ODZ1_uc011muj.2_Missense_Mutation_p.G651E|ODZ1_uc004euj.3_Missense_Mutation_p.G652E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	652	EGF-like 4.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.W652*(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACAGTTAACTCCTCCCCAGCC	0.498000														98			15		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203590	56203590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:56203590C>T	uc002lhj.4	-	4	4043	c.3829G>A	c.(3829-3831)Gat>Aat	p.D1277N	ALPK2_uc002lhk.1_Missense_Mutation_p.D608N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1277							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						TTTAGACTATCAGGTACAGCC	0.507000														57			6		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641774	142641774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142641774G>A	uc003wcb.3	-	11	1579	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	457					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCCAGGGAAGGTTTCTGAGG	0.587000														34			8		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47050061	47050062	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47050061_47050062CT>TC	uc003cqp.3	+	51	8109_8110	c.7930_7931CT>TC	c.(7930-7932)ctg>TCg	p.L2644S	NRADDP_uc011bas.1_5'Flank|NBEAL2_uc010hjm.2_Missense_Mutation_p.L2021S|NBEAL2_uc010hjn.2_Missense_Mutation_p.L1010S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2644							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGGGCTTCACTGCCCCTGGCA	0.584000														75			9		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230312225	230312225	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:230312225C>T	uc002vpv.3	-	7	1440	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	DNER_uc010zly.1_Silent_p.V159V	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	431	EGF-like 6.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.V431V(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGCAGGGGTCCACCTTTTCTT	0.488000														21			11		0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084964	32084964	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32084964C>T	uc009vtx.2	+	2	556	c.171C>T	c.(169-171)ttC>ttT	p.F57F	HCRTR1_uc001btc.4_Missense_Mutation_p.S31L|HCRTR1_uc001btd.2_Silent_p.F57F|HCRTR1_uc010ogl.2_Silent_p.F57F	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	57					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGGCTGTGTTCGTCGTGGCCC	0.587000														126			11		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667616	65667616	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65667616C>T	uc002aos.2	-	1	480	c.228G>A	c.(226-228)agG>agA	p.R76R		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	76	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCCATTCTTCCTCCAGGTGA	0.602000														36			5		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035909	88035909	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:88035909C>T	uc011ccz.2	+	11	2199	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	AFF1_uc003hqj.4_Nonsense_Mutation_p.R635*|AFF1_uc003hqk.4_Nonsense_Mutation_p.R635*|AFF1_uc011cda.2_Nonsense_Mutation_p.R273*	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	635						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTATGGCTCCCGAGACCAGAC	0.612000														51			5		0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561597	65561597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65561597C>T	uc001ofp.3	+	1	536	c.196C>T	c.(196-198)Cga>Tga	p.R66*	OVOL1_uc001ofq.3_Nonsense_Mutation_p.R4*	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	66					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CATGAGCCTTCGAGACTCTAG	0.652000														124			19		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921323	24921323	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24921323G>A	uc001ywo.3	+	0	783	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	103					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)		TGCCTGCTCGGAACCCCCCGA	0.682000														48			5		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073098	134073098	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:134073098C>T	uc003iha.3	+	0	2629	c.1803C>T	c.(1801-1803)acC>acT	p.T601T	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.T601T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	601	Cadherin 6.				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)		ACCTGCTCACCCGCGTGGCCG	0.677000														42			8		0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764014	33764014	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33764014C>A	uc002xbt.3	+	2	550	c.366C>A	c.(364-366)ccC>ccA	p.P122P	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	122					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGCTGCCTCCCGAGGGCTCTA	0.612000														139			5		1	1	1	1	0
ZNF425	155054	broad.mit.edu	37	7	148802413	148802413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148802413G>A	uc003wfj.3	-	3	683	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	184					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.P184L(1)		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)			GGCCCTGTGGGAATTTCTAAG	0.478000														38			7		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94496618	94496618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:94496618G>A	uc001dqh.3	-	27	4291	c.4187C>T	c.(4186-4188)cCt>cTt	p.P1396L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1396					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCGCCAAAAGGAGGGATAAC	0.517000														22			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767784	181767784	+	Silent	SNP	C	T	T	rs35105143		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181767784C>T	uc009wxt.3	+	47	6951	c.6756C>T	c.(6754-6756)ttC>ttT	p.F2252F	CACNA1E_uc001gow.3_Silent_p.F2209F|CACNA1E_uc009wxs.3_Silent_p.F2190F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2252					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						CGCTCACTTTCGAAGCAGCCG	0.642000														8			7		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7404345	7404345	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7404345C>T	uc002ghf.4	+	11	2354	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	656					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCCACATCTCCTACCTAGAGA	0.537000														60			6		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321186	2321186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2321186C>T	uc002wfx.4	+	12	2138	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	681					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)	CAACAAGTTCCCTGCAATCAA	0.592000														56			10		0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55273957	55273957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55273957G>A	uc002lgs.2	-	9	1256	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	NARS_uc010xea.1_Missense_Mutation_p.P94L	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	343					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding	p.C342C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	AGTCAGGAAAGGACACTCAGC	0.468000														91			8		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397718	116397718	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:116397718G>A	uc003vij.3	+	7	2179	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	MET_uc022akk.1_Silent_p.P664P|MET_uc010lkh.3_Silent_p.P664P|MET_uc011knf.2_Silent_p.P664P|MET_uc011kne.2_Silent_p.P636P|MET_uc011kng.1_Silent_p.P664P|MET_uc011knh.1_Silent_p.P664P|MET_uc011kni.2_Silent_p.P664P|MET_uc011knj.2_Silent_p.P234P	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	664	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTATTTCGCCGAAATACGGTC	0.333000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					6			6		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691313	26691313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26691313C>T	uc001bmg.1	-	3	842	c.724G>A	c.(724-726)Gag>Aag	p.E242K	ZNF683_uc001bmh.1_Missense_Mutation_p.E242K|ZNF683_uc009vsj.1_Missense_Mutation_p.E242K	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGCCCCAGCTCATTGACCATC	0.637000														90			26		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237308122	237308122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:237308122C>T	uc002vwb.2	-	8	1199	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	IQCA1_uc002vvz.1_Missense_Mutation_p.E382K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E341K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	382	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCATTTTTCGTCTTCTTCC	0.458000														89			23		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848165	54848165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54848165G>A	uc002qfj.3	-	5	1259	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	LILRA4_uc002qfi.3_Missense_Mutation_p.S335F	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	401	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGGGTTGGAGCTGCGTGA	0.597000														80			17		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45297674	45297674	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45297674G>A	uc010olf.2	-	3	510	c.498C>T	c.(496-498)ccC>ccT	p.P166P	PTCH2_uc021omv.1_Silent_p.P166P|PTCH2_uc010olg.2_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	166					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)					TTTCAATAAGGGGAACTCCTG	0.507000									Basal Cell Nevus syndrome					124			31		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102460559	102460559	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102460559C>T	uc001yks.2	+	11	3218	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1018	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGAGAAATTCTATCGGAATG	0.433000														101			6		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445697	29445697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29445697C>T	uc003aeg.3	+	7	1528	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	ZNRF3_uc021wnq.1_Missense_Mutation_p.P410S	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	510						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCTGCTCTTCCCCACCGTGGT	0.711000														29			4		0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45205647	45205647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45205647C>T	uc001cmg.4	+	0	158	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	KIF2C_uc010olb.2_Missense_Mutation_p.L15F	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	15	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GTTTCCCGGTCTCGCTATCAA	0.562000														399			53		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683505	71683505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:71683505G>A	uc002fax.3	-	17	3266	c.3260C>T	c.(3259-3261)tCa>tTa	p.S1087L	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.S1020L|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.	1087						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						GCTCACCTCTGAGGTGGACAT	0.577000														80			6		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53392718	53392718	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:53392718C>T	uc002iug.1	+	2	1107	c.582C>T	c.(580-582)gaC>gaT	p.D194D	HLF_uc010dce.1_Silent_p.D109D|HLF_uc002iuh.2_Silent_p.D109D|HLF_uc010wni.1_Silent_p.D141D	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	194	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAATGTTTGACCCTCGCAAAC	0.512000			T	TCF3	ALL									77			17		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700978	8700978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8700978C>T	uc002glp.2	-	0	1690	c.1461G>A	c.(1459-1461)atG>atA	p.M487I		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	487						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAGCCCTCTCCATGCGGGGAG	0.612000														25			4		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813418	25813418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25813418G>A	uc003nfh.4	-	6	756	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	SLC17A1_uc011djy.2_Intron|SLC17A1_uc010jqb.1_Missense_Mutation_p.L214F|SLC17A1_uc010jqc.1_Missense_Mutation_p.L212F	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	214					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AACCAGAGAAGACATACGGCA	0.443000														31			6		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153912185	153912185	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153912185G>A	uc001fdd.1	-	11	2100	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	567	dDENN.									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)			AAGGCTCCTTGGACTTCGCGC	0.632000														102			11		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653263	1653263	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1653263G>A	uc002qxa.3	-	16	2353	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	763					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCAGGCGCTCGAAGGCGGTCA	0.632000														124			15		0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27066148	27066148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:27066148C>T	uc002ylp.1	+	3	867	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	JAM2_uc011ace.1_Missense_Mutation_p.R108C|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R72C	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	108	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.R108H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GGGGAAATATCGTTGTGAAGT	0.403000														67			4		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080049	54080049	+	Missense_Mutation	SNP	C	T	T	rs143490707		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54080049C>T	uc002qbx.1	+	6	1669	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	ZNF331_uc002qby.1_Missense_Mutation_p.L79F|ZNF331_uc002qbz.1_Missense_Mutation_p.L79F|ZNF331_uc010eqr.1_Missense_Mutation_p.L79F|ZNF331_uc002qca.1_Missense_Mutation_p.L79F|ZNF331_uc021uzg.1_Missense_Mutation_p.L79F|ZNF331_uc021uzh.1_Missense_Mutation_p.L79F|ZNF331_uc002qcb.1_Missense_Mutation_p.L79F|ZNF331_uc002qcc.1_Missense_Mutation_p.L79F|ZNF331_uc002qcd.1_Missense_Mutation_p.L79F	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L79F(2)|p.S78S(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAGTAAATCCCTTGGCCGTAA	0.393000			T	?	follicular thyroid adenoma									43			5		0	0	1	0	0
MLLT11	10962	broad.mit.edu	37	1	151039782	151039782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151039782G>A	uc021oyj.1	+	0	82	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	MLLT11_uc001ewq.3_Missense_Mutation_p.E28K	NM_006818	NP_006809	Q13015	AF1Q_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 (MLLT11), mRNA.	28					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent					upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCGGAGCTGGAAGGCCTGGG	0.522000														76			6		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7680638	7680638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:7680638G>A	uc002cys.2	+	10	1698	c.710G>A	c.(709-711)gGa>gAa	p.G237E	RBFOX1_uc010buf.1_Missense_Mutation_p.G237E|RBFOX1_uc002cyr.1_Missense_Mutation_p.G236E|RBFOX1_uc002cyt.2_Intron|RBFOX1_uc010uxz.1_Missense_Mutation_p.G280E|RBFOX1_uc010uya.1_Missense_Mutation_p.G194E|RBFOX1_uc002cyv.1_Missense_Mutation_p.G237E|RBFOX1_uc010uyb.1_Missense_Mutation_p.G237E|RBFOX1_uc002cyw.2_Missense_Mutation_p.G257E|RBFOX1_uc002cyy.2_Missense_Mutation_p.G257E|RBFOX1_uc002cyx.2_Missense_Mutation_p.G257E|RBFOX1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	237					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AACCAGGAGGGATCTTCCATG	0.488000														35			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721223	13721223	+	Silent	SNP	G	A	A	rs138781046		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13721223G>A	uc003jfd.2	-	70	12207	c.12165C>T	c.(12163-12165)ccC>ccT	p.P4055P	DNAH5_uc003jfc.2_Silent_p.P223P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4055	AAA 6 (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)					TGGAATCTGTGGGGTCTGAGC	0.498000									Kartagener syndrome					44			11		0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2882008	2882008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2882008C>T	uc002cru.3	+	3	551	c.475C>T	c.(475-477)Caa>Taa	p.Q159*		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	159						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTACCCCAGCCAAGAGGGGCA	0.527000														73			10		0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40359636	40359636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40359636G>A	uc002hzh.3	-	15	2186	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	673	SH2.				2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	p.R673R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTTTTGGCCGATCAGGAAAC	0.448000														75			6		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48458892	48458892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48458892G>A	uc001rqx.3	-	11	1677	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	SENP1_uc001rqw.3_Missense_Mutation_p.H411Y|SENP1_uc001rqy.3_Missense_Mutation_p.H212Y|SENP1_uc001rqz.3_Missense_Mutation_p.H212Y|SENP1_uc009zkx.3_Missense_Mutation_p.H411Y	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	411					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity	p.G410fs*3(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GTTAATTTATGACCTTTTTTT	0.338000														6			3		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216581	10216581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10216581C>T	uc002gmk.1	-	29	4165	c.4075G>A	c.(4075-4077)Gcc>Acc	p.A1359T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1359					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCAGCTCGGCCTTGGCTTCC	0.627000														108			17		0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123676511	123676511	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:123676511A>G	uc004bku.2	-	4	866	c.294_splice	c.e4+1	p.K98_splice	TRAF1_uc011lyg.2_Splice_Site|TRAF1_uc010mvl.2_Splice_Site_p.K98_splice	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	98					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCAGATGCTTACCTTGAAGGA	0.512000														30			5		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090780	91090780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:91090780C>T	uc004efk.2	+	0	1122	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	PCDH11X_uc004efl.2_Missense_Mutation_p.R93C|PCDH11X_uc010nmv.2_Missense_Mutation_p.R93C|PCDH11X_uc004efm.2_Missense_Mutation_p.R93C|PCDH11X_uc004efn.2_Missense_Mutation_p.R93C|PCDH11X_uc004efo.2_Missense_Mutation_p.R93C|PCDH11X_uc004efh.2_Missense_Mutation_p.R93C|PCDH11X_uc004efj.1_Missense_Mutation_p.R93C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	93	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCGCATTGATCGTGAGAAATT	0.443000														45			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140802648	140802648	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140802648C>T	uc003lkq.2	+	0	2112	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.F618F|PCDHGC5_uc003lkp.2_Silent_p.F618F	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	619	Cadherin 6.				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)			CGGGACTCTTCGCGGTGGGGG	0.662000														55			7		0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555359	148555359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:148555359C>T	uc003ila.4	+	9	1660	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	364						integral to membrane		p.F363C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						AAATTGTTTCCCGAGGATCAA	0.358000														16			3		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238432	126238432	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:126238432T>C	uc003ifj.4	+	0	866	c.866T>C	c.(865-867)cTg>cCg	p.L289P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	289	Cadherin 3.				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						CGCTATCGCCTGCAGGACGAG	0.677000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			7		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64678708	64678708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64678708G>A	uc001obx.3	-	9	1383	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	423							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGCGAGTCAGGGCGCATGGT	0.627000														83			11		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462173	72462173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:72462173G>A	uc001jrg.3	+	2	628	c.628G>A	c.(628-630)Gag>Aag	p.E210K	ADAMTS14_uc001jrh.3_Missense_Mutation_p.E210K	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	210					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						GTACCGCCGGGAGGCCGTCCA	0.627000														66			5		0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151688415	151688415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151688415C>T	uc001eys.2	-	0	876	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CELF3_uc021oyt.1_5'UTR|CELF3_uc009wmy.3_Missense_Mutation_p.E28K|CELF3_uc001eyr.3_Missense_Mutation_p.E28K|CELF3_uc009wmx.2_Missense_Mutation_p.E28K|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Missense_Mutation_p.E28K|RIIAD1_uc001eyu.2_Intron	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	28	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCAAACTGTTCGAAGATGGGC	0.592000														49			14		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719043	50719043	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50719043G>A	uc003bkv.4	-	24	4143	c.4050C>T	c.(4048-4050)ttC>ttT	p.F1350F	PLXNB2_uc003bkt.1_Silent_p.F142F|PLXNB2_uc003bku.1_Silent_p.F335F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1350					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACGCGAAGTAGACCT	0.642000														62			8		0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128901581	128901581	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:128901581C>T	uc004eut.1	+	19	1987	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	581					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCTCCCAGTACCCAGGGAGCT	0.577000														58			9		0	0	1	0	0
GPR25	2848	broad.mit.edu	37	1	200843103	200843103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200843103C>T	uc001gvn.1	+	0	938	c.938C>T	c.(937-939)tCa>tTa	p.S313L		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	313						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CTGGACCGCTCATTCCGAGCC	0.706000														51			7		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180998	96180998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:96180998G>A	uc001tei.3	-	1	753	c.304C>T	c.(304-306)Cct>Tct	p.P102S	NTN4_uc009ztf.3_Missense_Mutation_p.P102S|NTN4_uc009ztg.3_Missense_Mutation_p.P65S	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	102	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CATGTGCGAGGAAACCGGAAG	0.512000														28			6		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131646736	131646736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131646736C>T	uc021qav.1	-	10	1080	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	EBF3_uc001lki.2_Missense_Mutation_p.E341K	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	350	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATGGTTGGTTCATTAAGGGCT	0.408000														103			11		0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30313211	30313211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:30313211C>T	uc002nsn.3	+	9	1088	c.905C>T	c.(904-906)tCg>tTg	p.S302L	CCNE1_uc002nso.3_Missense_Mutation_p.S287L	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	302					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CTTGCTGCTTCGGCCTTGTAT	0.443000			A		serous ovarian									124			19		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934293	136934293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:136934293G>A	uc003qhc.3	-	16	2741	c.2380C>T	c.(2380-2382)Ctc>Ttc	p.L794F	MAP3K5_uc011edj.2_Missense_Mutation_p.L41F|MAP3K5_uc011edk.1_Missense_Mutation_p.L639F	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	794	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGTCATGGAGATATTTTAAT	0.368000														22			6		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38231045	38231045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38231045C>T	uc002ohe.3	-	4	415	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ZNF573_uc010efs.2_Missense_Mutation_p.E29K|ZNF573_uc002ohd.3_Missense_Mutation_p.E114K|ZNF573_uc002ohf.3_Missense_Mutation_p.E58K|ZNF573_uc002ohg.3_Missense_Mutation_p.E28K|ZNF573_uc021utv.1_Missense_Mutation_p.E28K	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATATCTGTTTCATAAGTGGGT	0.313000														47			4		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22974328	22974328	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22974328G>A	uc003xcy.3	+	4	872	c.564G>A	c.(562-564)ggG>ggA	p.G188G	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	188					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCAGCCCGGGGACTCCTGCCC	0.627000														80			9		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536445	90536445	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90536445C>T	uc010mqi.3	+	3	1652	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	FAM75C1_uc004apq.4_Silent_p.F524F	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TGGAAAGCTTCCCAGGGAAGG	0.537000														84			6		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915875	126915875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126915875G>A	uc003eji.1	+	1	587	c.347G>A	c.(346-348)gGa>gAa	p.G116E						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCCCTCATAGGAAGTCCGTAT	0.587000														159			31		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20840970	20840970	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20840970A>T	uc001vxe.3	-	48	7038	c.6998T>A	c.(6997-6999)tTt>tAt	p.F2333Y	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.3_Missense_Mutation_p.F1676Y|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.F2225Y|TEP1_uc010tlh.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2333					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGGACAAAAAAGGTGTGTGC	0.507000														78			10		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30951791	30951791	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30951791C>T	uc003tbv.2	+	0	377	c.267C>T	c.(265-267)atC>atT	p.I89I	FAM188B_uc011kac.1_Silent_p.I149I	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGCCAGATCAGCATCTTCC	0.652000														92			10		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823181	47823181	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47823181G>A	uc002pgj.1	+	1	196	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	49					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCGTCTTCCTGGTGGGAGTGC	0.562000														74			6		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59821888	59821888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:59821888C>T	uc001xdz.1	+	20	2517	c.2392C>T	c.(2392-2394)Cgt>Tgt	p.R798C	DAAM1_uc001xea.1_Missense_Mutation_p.R788C|DAAM1_uc001xec.1_Non-coding_Transcript	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	798	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAGCAATTCGTTCTGGCTC	0.378000														25			8		0	0	1	0	0
F3	2152	broad.mit.edu	37	1	94998772	94998772	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:94998772C>T	uc001dqr.3	-	3	686	c.465G>A	c.(463-465)gtG>gtA	p.V155V	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Silent_p.V155V	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	155					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CGGTCACATTCACTTTTGTTC	0.403000														57			4		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857944	9857944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:9857944C>T	uc010uym.2	-	13	3767	c.3457G>A	c.(3457-3459)Gat>Aat	p.D1153N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1153N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D996N|GRIN2A_uc002czr.4_Missense_Mutation_p.D1153N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1153					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1153N(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACTGGGATCCTGGTAGGGG	0.522000														74			10		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788371	10788371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:10788371C>T	uc002czz.1	-	0	432	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	120					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCAAGAGCCTCATGGAGTCAT	0.657000														77			6		0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042626	90042626	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:90042626C>T	uc003ukp.3	+	4	1272	c.636C>T	c.(634-636)tcC>tcT	p.S212S	CLDN12_uc003ukq.3_Silent_p.S212S|CLDN12_uc010leq.3_Silent_p.S212S|CLDN12_uc003uks.3_Silent_p.S212S|CLDN12_uc003ukr.3_Silent_p.S212S|CLDN12_uc022ahd.1_Silent_p.S212S	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	212					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CATTGTACTCCCATCCACCCA	0.438000														114			6		0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127669217	127669217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:127669217C>T	uc003vmk.3	-	1	1614	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.V493M	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	493	Thr-rich.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TGAATGAGCACCGTGGTAGAG	0.567000														77			6		0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49224837	49224837	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:49224837G>A	uc001crx.4	-	2	524	c.480C>T	c.(478-480)ttC>ttT	p.F160F	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_5'UTR	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	160										large_intestine(5)|lung(2)|skin(1)	8						AGGCCTCCACGAAGACCTCTT	0.617000														22			4		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595048	140595048	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595048C>T	uc003lja.1	+	0	1540	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	451	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGCCTTCACCCAAACCT	0.572000														90			7		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728538	50728538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50728538G>A	uc003bkv.4	-	2	569	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	159	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGACCCGTGGAGCTCACCAG	0.622000														22			4		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88033707	88033707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:88033707G>A	uc001pck.4	-	4	849	c.748C>T	c.(748-750)Cga>Tga	p.R250*	CTSC_uc001pcl.4_Nonsense_Mutation_p.R102*	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	250					immune response	lysosome	cysteine-type endopeptidase activity	p.R250*(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTGGTTTCGAACAGGACTG	0.373000														29			5		0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159038487	159038487	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159038487A>T	uc001ftj.1	-	2	512	c.267T>A	c.(265-267)gaT>gaA	p.D89E		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	89					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGTATTGCTTATCAACTGATT	0.368000														38			9		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349515	58349515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:58349515G>A	uc002yau.3	+	6	1611	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	PHACTR3_uc002yat.3_Missense_Mutation_p.E379K|PHACTR3_uc010zzw.2_Missense_Mutation_p.E341K|PHACTR3_uc002yav.3_Missense_Mutation_p.E341K|PHACTR3_uc002yaw.3_Missense_Mutation_p.E341K|PHACTR3_uc002yax.3_Missense_Mutation_p.E271K	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	382						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.E382K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GTATCAGGACGAGGAGGCGCT	0.498000														133			16		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21123466	21123466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21123466G>A	uc002kum.4	-	13	2472	c.2198C>T	c.(2197-2199)cCc>cTc	p.P733L	NPC1_uc010xaz.2_Missense_Mutation_p.P466L|NPC1_uc010xba.1_Missense_Mutation_p.P578L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	733	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAACATACTGGGAGCCACTTC	0.428000														77			6		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329866	137329866	+	Silent	SNP	C	T	T	rs147634362		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:137329866C>T	uc003qhj.3	-	4	1027	c.594G>A	c.(592-594)gtG>gtA	p.V198V	IL20RA_uc011edl.2_Silent_p.V149V|IL20RA_uc003qhk.3_Silent_p.V87V|IL20RA_uc003qhi.3_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	198	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGTGGTTGGTCACACACTGGG	0.542000														48			4		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27350157	27350157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27350157G>A	uc009xku.1	-	12	1550	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.P460S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	460						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGCAAGAAGGTATATAAAAC	0.294000														90			15		0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936279	4936279	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4936279C>T	uc002gap.4	-	4	2033	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	SLC52A1_uc002gao.4_Silent_p.K440K|SLC52A1_uc010ckw.3_Silent_p.K318K|SLC52A1_uc010ckx.3_3'UTR	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	440						integral to plasma membrane	receptor activity|riboflavin transporter activity	p.K440N(1)									CTACACAGTCCTTTCTGCTTT	0.607000														35			4		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18221654	18221654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:18221654C>T	uc004cyj.4	-	4	1028	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	BEND2_uc010nfb.2_Missense_Mutation_p.A292T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	292										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GATGACAAGGCTCTACCTGGG	0.418000														26			16		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100996263	100996263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100996263G>A	uc010avx.3	+	6	1613	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	WDR25_uc001yhn.3_Missense_Mutation_p.R507Q|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.R250Q	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	507										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ACAGCCAGCCGAGCATGCACA	0.677000														89			7		0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619927	24619927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24619927C>T	uc001wmn.1	+	7	1567	c.1318C>T	c.(1318-1320)Cca>Tca	p.P440S	RNF31_uc001wml.1_Missense_Mutation_p.P289S|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.P255S|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	440	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TAGCCCCATTCCAGCACAACA	0.602000														98			11		0	0	1	0	0
TMEM37	140738	broad.mit.edu	37	2	120194767	120194767	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120194767C>T	uc002tly.3	+	1	358	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	108						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCCTGGAGTTCCTCATGGTGT	0.652000														140			14		0	0	1	0	0
MRPL28	10573	broad.mit.edu	37	16	419071	419071	+	Silent	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:419071G>C	uc002cgs.2	-	2	516	c.438C>G	c.(436-438)ctC>ctG	p.L146L		NM_006428	NP_006419	Q13084	RM28_HUMAN	Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), nuclear gene encoding mitochondrial protein, mRNA.	146					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CGCTTGCCTTGAGGATGTAAA	0.587000														28			6		0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15512123	15512123	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:15512123C>T	uc003bzx.3	-	11	763	c.637_splice	c.e11-1	p.G213_splice	COLQ_uc003bzv.3_Splice_Site_p.G203_splice|COLQ_uc010heo.3_Splice_Site_p.G179_splice|COLQ_uc003cad.1_Splice_Site|COLQ_uc003cae.1_Splice_Site_p.G72_splice	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	213	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCCATTTCACCCTGGAAAGAA	0.532000														104			8		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457158	110457158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110457158C>T	uc003yne.3	+	37	5164	c.5060C>T	c.(5059-5061)tCt>tTt	p.S1687F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1687	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGCCGTTTCTTCTGCAGGT	0.438000										HNSCC(38;0.096)				79			5		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100147	168100147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168100147G>A	uc002udx.3	+	8	2334	c.2245G>A	c.(2245-2247)Ggc>Agc	p.G749S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G574S|XIRP2_uc010fpq.3_Missense_Mutation_p.G527S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	574					actin cytoskeleton organization	cell junction	actin binding	p.S748L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATGGTTCGGGCCAAATGCT	0.383000														22			3		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60743815	60743815	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60743815G>A	uc002jad.3	+	4	1097	c.695_splice	c.e4-1	p.S232_splice		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	232					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGTGGTGGCAGGTAACGACTG	0.632000														68			9		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	67457	67457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrGL000209.1:67457G>A	uc002qud.4	+	6	1013	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_3'UTR|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_3'UTR|KIR2DL2_uc002quc.4_Missense_Mutation_p.E292K|KIR2DL2_uc002quh.4_Missense_Mutation_p.E201K|KIR2DL2_uc002que.4_Missense_Mutation_p.E279K|KIR2DL2_uc002quf.4_Missense_Mutation_p.E184K|KIR2DL2_uc010eve.3_3'UTR|KIR2DL2_uc002qug.4_Missense_Mutation_p.E257K|KIR2DL2_uc010evf.3_Non-coding_Transcript|KIR2DL2_uc010evg.1_5'Flank|KIR2DL2_uc010evh.1_5'Flank|KIR2DL2_uc002qui.2_5'Flank|KIR2DL2_uc021vdb.1_5'Flank|KIR2DL2_uc010yie.2_5'Flank	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	294					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GGACTCTGATGAACAAGACCC	0.488000														54			10		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560117	145560117	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145560117G>A	uc001eob.1	+	7	711	c.603G>A	c.(601-603)gtG>gtA	p.V201V	ANKRD35_uc010oyx.1_Silent_p.V44V	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	201										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGCCGAGGTGGCTGAACTGC	0.567000														76			8		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27244400	27244400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27244400G>A	uc002hdg.1	-	6	1567	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	PHF12_uc010wbb.1_Missense_Mutation_p.S328L|PHF12_uc002hdi.1_Missense_Mutation_p.S342L|PHF12_uc002hdj.1_Missense_Mutation_p.S346L|PHF12_uc010crw.1_Missense_Mutation_p.S49L|PHF12_uc002hdh.1_Missense_Mutation_p.S129L	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	346	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GACATGCTGCGAAACGGTGTC	0.517000														63			7		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2439451	2439451	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2439451C>T	uc010qxl.2	-	5	861	c.852G>A	c.(850-852)gaG>gaA	p.E284E	TRPM5_uc001lwm.4_Silent_p.E284E|TRPM5_uc009ydn.3_Silent_p.E286E	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	284						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	p.V277_W293del(2)		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)		TGGGGAACTTCTCCTTAAACT	0.632000														369			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976491	20976491	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20976491C>T	uc010vbe.2	-	52	8715	c.8715G>A	c.(8713-8715)cgG>cgA	p.R2905R	DNAH3_uc010vbd.2_Silent_p.R340R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2905	Stalk (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)		TCAGTCGCTCCCGTTTGGGAG	0.592000														142			11		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098438	144098438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:144098438C>T	uc022aoj.1	-	3	545	c.545G>A	c.(544-546)gGg>gAg	p.G182E		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	182					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ACAATCTTCCCCCTGAGTCTG	0.622000														25			4		0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176594942	176594942	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:176594942G>A	uc003iuf.3	-	2	1080	c.276C>T	c.(274-276)ttC>ttT	p.F92F	GPM6A_uc011ckj.2_Silent_p.F85F|GPM6A_uc003iug.3_Silent_p.F92F|GPM6A_uc003iuh.3_Silent_p.F81F	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	92						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATACACAAAGAACGCAGCTG	0.418000														18			4		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084560	31084560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31084560G>A	uc003nsm.2	-	1	888	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	278	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TTGCCTGGAAGGCCACCATTG	0.597000														49			5		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21636346	21636346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21636346G>A	uc001rex.3	-	6	1012	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	RECQL_uc001rey.3_Missense_Mutation_p.H222Y	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	222	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTACAGCAGTGAACTTCATCC	0.393000								Other identified genes with known or suspected DNA repair function						23			4		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154241257	154241257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154241257C>T	uc001fep.4	+	25	3162	c.2995C>T	c.(2995-2997)Cat>Tat	p.H999Y	UBAP2L_uc010pel.2_Missense_Mutation_p.H1008Y|UBAP2L_uc001feq.3_Missense_Mutation_p.H195Y|UBAP2L_uc001fer.3_Missense_Mutation_p.H195Y	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	999					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAAGGTTTTCATTCCGGTAC	0.537000														130			12		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120362843	120362843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120362843G>A	uc002tmb.3	+	11	1365	c.253G>A	c.(253-255)Gag>Aag	p.E85K	PCDP1_uc010yyq.2_Missense_Mutation_p.E215K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	371						cilium	calmodulin binding					Colorectal(110;0.196)					CATTCACGAAGAGATGGAAAA	0.383000														33			4		0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085848	110085848	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110085848C>T	uc021orh.1	+	0	204	c.204C>T	c.(202-204)gcC>gcT	p.A68A	GPR61_uc001dxy.2_Silent_p.A68A	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGTGATCGCCAAGACGCCTG	0.602000														110			8		0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1611752	1611752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1611752G>A	uc002ltr.3	-	18	1988	c.1919C>T	c.(1918-1920)cCc>cTc	p.P640L	TCF3_uc002ltn.3_Missense_Mutation_p.P89L|TCF3_uc002lto.3_Missense_Mutation_p.P401L|TCF3_uc002ltt.4_Missense_Mutation_p.P637L|TCF3_uc002ltq.3_Missense_Mutation_p.P644L|TCF3_uc002lts.1_Missense_Mutation_p.P552L	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	640					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GCCTGGGTGGGGAGCTGAAAG	0.617000			T	"""PBX1, HLF, TFPT"""	pre B-ALL									59			13		0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6610460	6610460	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6610460G>A	uc001ans.3	-	1	708	c.612C>T	c.(610-612)aaC>aaT	p.N204N	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	204					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CATTACCAAGGTTAAGATGAG	0.438000														61			18		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114515914	114515914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114515914C>T	uc001eem.3	+	15	3574	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	HIPK1_uc001een.3_Missense_Mutation_p.S1138F|HIPK1_uc001eeo.3_Missense_Mutation_p.S764F|HIPK1_uc001eep.3_Missense_Mutation_p.S744F|HIPK1_uc001eeq.3_Missense_Mutation_p.S430F	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	1138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CCACAGGGTTCCTCAAGGCAT	0.587000														107			37		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109926464	109926464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109926464C>T	uc001top.3	+	6	1138	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	UBE3B_uc001toq.3_Missense_Mutation_p.R179W|UBE3B_uc001tom.3_Missense_Mutation_p.R179W|UBE3B_uc001ton.3_Missense_Mutation_p.R179W|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.R179W|UBE3B_uc001tor.3_Missense_Mutation_p.R179W	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	179					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAAAATTCTTCGGGGAAAAGG	0.448000														94			8		0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042955	31042955	+	Silent	SNP	C	T	T	rs117790300	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31042955C>T	uc003ais.1	+	1	1635	c.990C>T	c.(988-990)ttC>ttT	p.F330F	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	330						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACTGCGAGTTCGTGGCCTCCT	0.632000														62			6		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950826	43950826	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:43950826T>A	uc003bdy.2	-	26	3885	c.3571A>T	c.(3571-3573)Atg>Ttg	p.M1191L	EFCAB6_uc003bdz.2_Missense_Mutation_p.M1039L|EFCAB6_uc010gzi.2_Missense_Mutation_p.M1039L|EFCAB6_uc010gzj.1_Missense_Mutation_p.M417L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1191	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCGTTTTCATGGTGTCAAAA	0.522000														136			10		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24483936	24483936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24483936G>A	uc001bis.3	-	6	1274	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	IL28RA_uc001bir.3_Missense_Mutation_p.P387L|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Missense_Mutation_p.P332L	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	416					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		ATCCCCACCCGGCCCTTGGCC	0.602000														66			22		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552702	41552702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41552702C>T	uc003xok.3	-	26	3192	c.3108G>A	c.(3106-3108)atG>atA	p.M1036I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.M352I|ANK1_uc003xoi.3_Missense_Mutation_p.M1036I|ANK1_uc003xoj.3_Missense_Mutation_p.M1036I|ANK1_uc003xol.3_Missense_Mutation_p.M1036I|ANK1_uc003xom.3_Missense_Mutation_p.M1077I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1036					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G1035W(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TACCTTCGTCCATCCCGTTGA	0.602000														207			18		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55330035	55330035	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55330035C>T	uc002qhl.4	+	2	399	c.336C>T	c.(334-336)ccC>ccT	p.P112P	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.P112P|KIR3DL2_uc010esf.3_Intron|KIR3DL2_uc021vbo.1_Silent_p.P112P|KIR3DL2_uc002qhk.4_Silent_p.P112P			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	112					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCAGCAACCCCGTGGTGATCA	0.607000														93			5		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55820066	55820066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55820066C>T	uc002qkf.3	+	19	2324	c.2197C>T	c.(2197-2199)Cat>Tat	p.H733Y	BRSK1_uc002qkg.3_Missense_Mutation_p.H717Y|BRSK1_uc002qkh.3_Missense_Mutation_p.H412Y|Mir_324_uc021vbu.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	717					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTGAGCACTCATGACCAGCC	0.706000														21			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281938	152281938	+	Silent	SNP	C	T	T	rs142906121		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152281938C>T	uc001ezu.1	-	2	5460	c.5424G>A	c.(5422-5424)gaG>gaA	p.E1808E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1808	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q1807K(1)		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)			TGTCCTGACCCTCTTGGGACG	0.602000									Ichthyosis					394			34		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113856862	113856862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113856862G>A	uc010rxb.2	+	5	921	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	HTR3A_uc010rxa.2_Missense_Mutation_p.E230K|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.E209K	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	224					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTTCAGCATGGAAAGCAGTAA	0.483000														136			11		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288916	216288916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:216288916G>A	uc002vfa.3	-	7	1435	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	FN1_uc002vfc.3_Missense_Mutation_p.S390L|FN1_uc002vfe.3_Missense_Mutation_p.S390L|FN1_uc002vff.3_Missense_Mutation_p.S390L|FN1_uc002vfg.3_Missense_Mutation_p.S390L|FN1_uc002vfh.3_Missense_Mutation_p.S390L|FN1_uc002vfi.3_Missense_Mutation_p.S390L|FN1_uc002vfj.3_Missense_Mutation_p.S390L|FN1_uc002vfb.3_Missense_Mutation_p.S390L|FN1_uc002vfl.3_Missense_Mutation_p.S390L	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	390	Collagen-binding.|Fibronectin type-II 1.				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	p.S390S(1)	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)	CTCATAATTCGAAGTTGTGCT	0.512000														107			13		0	0	1	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565524	69565524	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:69565524C>A	uc001jnb.3	-	3	487	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	U6_uc021prq.1_5'Flank	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	107					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TCTTTTTTACCTCTGACAACC	0.318000														47			8		0.000157383	0.000158986	1	1	0
ZNF281	23528	broad.mit.edu	37	1	200376289	200376289	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200376289A>T	uc001gve.3	-	1	2652	c.2545T>A	c.(2545-2547)Ttt>Att	p.F849I	ZNF281_uc001gvf.1_Missense_Mutation_p.F849I|ZNF281_uc001gvg.1_Missense_Mutation_p.F813I|ZNF281_uc021phb.1_Missense_Mutation_p.F849I	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	849					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTAGTGATAAAGGTCATTGGC	0.428000														91			6		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3990604	3990604	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:3990604G>T	uc003smx.3	+	5	1036	c.897G>T	c.(895-897)ccG>ccT	p.P299P		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	299	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.P299P(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGTTCCCCCGGGCAACAGAA	0.522000														47			4		1	1	1	1	0
ZMYND15	84225	broad.mit.edu	37	17	4643876	4643876	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4643876C>T	uc002fyu.2	+	0	63	c.33C>T	c.(31-33)ttC>ttT	p.F11F	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Silent_p.F11F|ZMYND15_uc002fyt.2_Silent_p.F11F	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	11							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGATGAGTTCCTTGATTTCA	0.577000														99			15		0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615450	70615450	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:70615450T>C	uc003hen.3	-	3	662	c.364A>G	c.(364-366)Aac>Gac	p.N122D		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	122					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTGCAATTGTTTTCCCAGAAA	0.358000														54			10		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57158499	57158499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:57158499G>A	uc002iwy.4	-	5	895	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	TRIM37_uc002iwz.4_Missense_Mutation_p.R151C|TRIM37_uc002ixa.4_Missense_Mutation_p.R29C|TRIM37_uc010woc.2_Missense_Mutation_p.R117C	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	151						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGACGCCGACGAAGTTTGGCT	0.333000									Mulibrey Nanism					55			13		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230373	21230373	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21230373G>A	uc002red.3	-	25	9495	c.9367C>T	c.(9367-9369)Ctg>Ttg	p.L3123L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3123					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGAAATCCAGATTTGCTTCT	0.368000														248			14		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749564	142749564	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142749564A>G	uc011ksv.2	+	0	127	c.127A>G	c.(127-129)Atc>Gtc	p.I43V		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AAACACCATCATCATAGTTAT	0.488000														179			11		0	0	1	0	0
GABARAP	11337	broad.mit.edu	37	17	7144739	7144739	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7144739G>A	uc002gfb.3	-	2	314	c.210C>T	c.(208-210)ctC>ctT	p.L70L	PHF23_uc002gfa.3_5'Flank|PHF23_uc010vtt.2_5'Flank|PHF23_uc010cma.3_5'Flank	NM_007278	NP_009209	O95166	GBRAP_HUMAN	Homo sapiens GABA(A) receptor-associated protein (GABARAP), mRNA.	70	Interaction with GPHN (By similarity).				protein targeting|synaptic transmission	Golgi membrane|autophagic vacuole membrane|microtubule|plasma membrane	GABA receptor binding|beta-tubulin binding			breast(1)|lung(2)	3						CCTCAGCTCGGAGATGAATTC	0.463000														183			25		0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2570417	2570417	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2570417G>A	uc002fuw.4	+	4	892	c.324G>A	c.(322-324)agG>agA	p.R108R	PAFAH1B1_uc010ckb.2_Non-coding_Transcript	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	108	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GTGGTCACAGGAGTCCAGTCA	0.428000														45			6		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7171637	7171637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7171637G>A	uc001qsj.3	+	7	1177	c.458G>A	c.(457-459)gGt>gAt	p.G153D	C1S_uc001qsk.3_Missense_Mutation_p.G153D|C1S_uc001qsl.3_Missense_Mutation_p.G153D|C1S_uc009zfr.3_5'UTR|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	153	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCATTGGTGGTTACTTCTGC	0.448000														92			5		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39994235	39994235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39994235G>A	uc003ayc.3	+	1	316	c.316G>A	c.(316-318)Gac>Aac	p.D106N	CACNA1I_uc003ayd.3_Missense_Mutation_p.D106N|CACNA1I_uc003aye.3_Missense_Mutation_p.D21N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D21N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	106					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CGACGACATGGACTGCCTGTC	0.647000														11			3		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139218319	139218319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:139218319C>T	uc003leu.1	+	12	2135	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	644					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTTCTGTCGGCCCCTGCT	0.617000														37			7		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18327613	18327613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18327613C>T	uc010xqc.2	-	11	1903	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	PDE4C_uc002nik.4_Missense_Mutation_p.D475N|PDE4C_uc002nil.4_Missense_Mutation_p.D475N|PDE4C_uc002nig.4_Missense_Mutation_p.D190N|PDE4C_uc002nih.4_Missense_Mutation_p.D245N|PDE4C_uc010ebk.3_Missense_Mutation_p.D369N|PDE4C_uc002nii.4_Missense_Mutation_p.D443N|PDE4C_uc002nif.4_Missense_Mutation_p.D244N|PDE4C_uc010ebl.3_Missense_Mutation_p.D189N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	475					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGGAAGATATCGCAGTTCTCT	0.602000														68			25		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031367	33031367	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:33031367C>T	uc001rlj.4	-	2	562	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PKP2_uc001rlk.4_Silent_p.E149E|PKP2_uc010skj.2_Silent_p.E149E	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	149					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.E149A(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGGAGAAATCTCCAGTCTCC	0.567000														229			38		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294928	42294928	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:42294928C>A	uc003xpe.3	-	7	1471	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	SLC20A2_uc010lxl.3_Nonsense_Mutation_p.E368*|SLC20A2_uc010lxm.3_Nonsense_Mutation_p.E368*|SLC20A2_uc011lcu.2_Nonsense_Mutation_p.E170*	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	368					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.E368*(2)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCTTCTCCTCGGGGCCCCTG	0.597000														214			6		1	1	1	1	0
ASPHD1	253982	broad.mit.edu	37	16	29912638	29912638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29912638C>T	uc002dut.3	+	0	492	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	116	Gly-rich.				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGGGGGTGTTCGTGGTGGGCC	0.697000														65			5		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216102	11216102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11216102G>A	uc002mqk.4	+	3	707	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	LDLR_uc010xlk.2_Missense_Mutation_p.E174K|LDLR_uc010xll.2_Missense_Mutation_p.E133K|LDLR_uc021upc.1_Missense_Mutation_p.E53K|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.E27K|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	174	LDL-receptor class A 4.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCCCGACTGCGAAGATGGCTC	0.647000														173			46		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685274	125685274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125685274C>T	uc022cds.1	-	0	1318	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	DCAF12L1_uc004eul.3_Missense_Mutation_p.E440K	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	440								p.E440*(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCTTCATCTCAGGCCAGTTG	0.552000														63			20		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30860213	30860213	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30860213C>T	uc003nrv.3	+	6	1035	c.993C>T	c.(991-993)gcC>gcT	p.A331A	DDR1_uc010jse.3_Silent_p.A331A|DDR1_uc003nrq.3_Silent_p.A331A|DDR1_uc003nrr.3_Silent_p.A331A|DDR1_uc003nrs.3_Silent_p.A331A|DDR1_uc003nrt.3_Silent_p.A331A|DDR1_uc011dms.2_Silent_p.A349A|DDR1_uc003nru.3_Silent_p.A331A|DDR1_uc003nry.2_Silent_p.A331A|DDR1_uc003nrx.2_Silent_p.A331A|DDR1_uc003nrw.1_Silent_p.A130A	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	331					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACCCCAGAGCCCGGGCTGTCT	0.672000														41			8		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852806	22852806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22852806C>T	uc001bft.2	+	18	4148	c.3637C>T	c.(3637-3639)Cag>Tag	p.Q1213*	ZBTB40_uc001bfu.2_Nonsense_Mutation_p.Q1213*|ZBTB40_uc009vqi.1_Nonsense_Mutation_p.Q1101*	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1213					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCAGGCATCTCAGGCCAGCTC	0.607000														85			26		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36748901	36748901	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:36748901C>T	uc010tei.2	-	11	1293	c.978G>A	c.(976-978)gtG>gtA	p.V326V	CCDC169-SOHLH2_uc001uvj.3_Silent_p.V249V	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	326					regulation of transcription, DNA-dependent	nucleus											GGATATATTTCACATAATCAA	0.403000														24			7		0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389900	57389900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57389900G>A	uc021qzf.1	+	0	907	c.907G>A	c.(907-909)Gat>Aat	p.D303N	GPR182_uc001smk.3_Missense_Mutation_p.D303N	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTTCTATGATGTCATTGA	0.552000														202			20		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168274352	168274352	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168274352C>T	uc001gfl.3	+	5	885	c.834C>T	c.(832-834)ggC>ggT	p.G278G	TBX19_uc001gfj.4_Intron|TBX19_uc001gfm.3_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	278					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CCCACCATGGCTGTGAGCACT	0.562000														97			20		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98917635	98917635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:98917635C>T	uc001kmw.2	-	3	605	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	SLIT1_uc009xvh.1_Missense_Mutation_p.R118Q|ARHGAP19_uc001kmy.3_Non-coding_Transcript	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	118					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGCTGGTTTCGGTTCAGTCG	0.483000														150			12		0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	64006315	64006315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64006315G>A	uc001xgd.1	-	1	679	c.89C>T	c.(88-90)tCg>tTg	p.S30L	PPP2R5E_uc010tsh.1_Missense_Mutation_p.S30L|PPP2R5E_uc001xge.2_Missense_Mutation_p.S30L|PPP2R5E_uc001xgf.1_Non-coding_Transcript|PPP2R5E_uc001xgg.4_Missense_Mutation_p.S30L	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	30					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GGAACTTTGCGACCTCTTCTG	0.468000														84			6		0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35944601	35944601	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35944601C>T	uc001byx.3	-	3	1137	c.879G>A	c.(877-879)caG>caA	p.Q293Q	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Silent_p.Q293Q	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	293						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAAAGAGGCCTGGGGGGTAG	0.488000														87			11		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32949392	32949392	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:32949392C>T	uc002ntg.3	+	11	1497	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	DPY19L3_uc002nth.2_Silent_p.F433F|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	433						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTGTAGCATTCGTTGTTGCCT	0.358000														87			19		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41029282	41029282	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:41029282C>T	uc004dfb.3	+	18	3304	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	USP9X_uc004dfc.3_Nonsense_Mutation_p.R891*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	891					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTGTAGTTCGATTTCCAAA	0.408000														37			15		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557249	157557249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157557249C>T	uc001fqw.3	-	4	800	c.664G>A	c.(664-666)Gac>Aac	p.D222N	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	222	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGTGGGGTGTCTGACCGCTCT	0.517000														87			15		0	0	1	0	0
THAP6	152815	broad.mit.edu	37	4	76452309	76452309	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76452309A>G	uc003him.3	+	4	651	c.554A>G	c.(553-555)aAg>aGg	p.K185R	THAP6_uc003hin.3_Missense_Mutation_p.K143R|THAP6_uc011cbm.2_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.3_Missense_Mutation_p.K185R	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	Homo sapiens THAP domain containing 6 (THAP6), mRNA.	185						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGAGGAAGACAATCAGG	0.403000														28			6		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511028	48511028	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:48511028G>A	uc010rhx.2	+	0	684	c.684G>A	c.(682-684)caG>caA	p.Q228Q		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTTAGTCAGAAAGGGAGGC	0.438000														18			3		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198682180	198682180	+	Missense_Mutation	SNP	C	T	T	rs142046206		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:198682180C>T	uc001gur.1	+	11	1444	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F	PTPRC_uc001gut.1_Missense_Mutation_p.L261F|PTPRC_uc009wzf.1_Missense_Mutation_p.L310F|PTPRC_uc021pgy.1_Missense_Mutation_p.L376F|PTPRC_uc010ppg.1_Missense_Mutation_p.L358F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	422	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAATTTTACCCTCTGTTATAT	0.333000														69			6		0	0	1	0	0
C1orf182	128229	broad.mit.edu	37	1	156314452	156314452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156314452C>T	uc001foo.3	+	2	476	c.116C>T	c.(115-117)tCc>tTc	p.S39F	C1orf182_uc009wry.3_Missense_Mutation_p.S39F|C1orf182_uc001fop.4_Missense_Mutation_p.S39F	NM_144627	NP_653228	Q96A04	CA182_HUMAN	Homo sapiens chromosome 1 open reading frame 182 (C1orf182), mRNA.	39										lung(2)|prostate(2)	4	Hepatocellular(266;0.158)					CAAGCAAGTTCCCCACCAGCC	0.473000														87			18		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912891	94912891	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94912891A>T	uc001ydd.1	-	2	754	c.694T>A	c.(694-696)Ttc>Atc	p.F232I		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	232					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TCCACAAAGAAACTTTCCTGC	0.488000														52			6		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901303	159901303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159901303C>T	uc001fur.2	-	11	1651	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	IGSF9_uc001fuq.2_Missense_Mutation_p.E469K|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	485	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTGCATTCCCAGTGCCCG	0.642000														55			10		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70502258	70502258	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70502258C>T	uc001joo.3	+	5	569	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Silent_p.F124F|CCAR1_uc001jon.1_Silent_p.F96F|CCAR1_uc010qiz.1_Silent_p.F135F|CCAR1_uc010qja.1_Silent_p.F135F|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	150					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.F150V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGCGTGTTTTCACAGGGGTGG	0.433000														67			9		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224482050	224482050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:224482050G>A	uc001hok.3	-	11	1306	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	NVL_uc001hol.3_Missense_Mutation_p.S309L|NVL_uc010pvd.2_Missense_Mutation_p.S324L|NVL_uc010pve.2_Missense_Mutation_p.S226L|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	415						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AGGGTCTAACGAGTCTGGTCG	0.458000														60			6		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90648040	90648040	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:90648040G>A	uc011eab.2	-	7	2740	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	BACH2_uc003pnw.3_Silent_p.I622I	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	622						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAAGATCTGTGATTTGATCTA	0.388000														37			5		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30791802	30791802	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30791802G>A	uc003tbs.1	+	0	52	c.36G>A	c.(34-36)caG>caA	p.Q12Q	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.Q12Q	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	12						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						ATGAGTACCAGAAGCACTTCC	0.552000														126			8		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072429	133072429	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:133072429A>T	uc003qdt.3	-	4	1066	c.1055T>A	c.(1054-1056)tTt>tAt	p.F352Y	VNN2_uc003qds.3_Missense_Mutation_p.F61Y|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.F299Y	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	352					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TGCATTTTCAAAAAGTTCTGT	0.388000														39			6		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36499563	36499563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36499563G>A	uc002hpz.3	-	0	131	c.110C>T	c.(109-111)cCt>cTt	p.P37L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGAAGACAGAGGGGGCAGAGA	0.652000														42			9		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621191	38621191	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38621191C>T	uc002ohk.3	+	9	3431	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	974	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGAACGGGCTCGGGCAGCTGG	0.667000														82			7		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2549161	2549161	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2549161C>T	uc001lwn.3	+	1	498	c.390C>T	c.(388-390)ttC>ttT	p.F130F	KCNQ1_uc009ydo.1_3'UTR|KCNQ1_uc009ydp.1_5'UTR|KCNQ1_uc001lwo.3_Silent_p.F3F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	130					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CTTGCAGCTTCCTCATCGTCC	0.642000														371			31		0	0	1	0	0
CELP	1057	broad.mit.edu	37	9	135961730	135961730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135961730G>A	uc011mcu.1	+	3	565	c.472G>A	c.(472-474)Gag>Aag	p.E158K						Homo sapiens carboxyl ester lipase pseudogene (CELP), non-coding RNA.																		CCATAGAGATGAGATCCAGTA	0.597000														143			12		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31621995	31621995	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31621995G>A	uc010zuc.2	+	2	201	c.201G>A	c.(199-201)ttG>ttA	p.L67L	BPIFB6_uc010zud.2_Silent_p.L6L	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	67						extracellular region	lipid binding										TTCCCAGTTTGAAGGTGAAGG	0.527000														90			21		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453412	50453412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50453412C>T	uc010ybh.2	-	10	2003	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	SIGLEC11_uc010ybi.2_Missense_Mutation_p.E542K	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	638					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCTGCTCTTCCCCCTTCCCC	0.657000														25			7		0	0	1	0	0
RPS29	6235	broad.mit.edu	37	14	50052766	50052766	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:50052766G>A	uc001wwl.3	-	2	93	c.63_splice	c.e2-1	p.C21_splice	NEMF_uc010anj.1_Intron|RPS29_uc001wwm.3_Splice_Site_p.C21_splice|Metazoa_SRP_uc021rsp.1_5'Flank	NM_001030001	NP_001025172	P62273	RS29_HUMAN	Homo sapiens ribosomal protein S29 (RPS29), transcript variant 2, mRNA.	21					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome|zinc ion binding			endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					GAACAGACACGACTGTAAGAA	0.507000														74			5		0	0	1	0	0
YIF1B	90522	broad.mit.edu	37	19	38798389	38798389	+	Silent	SNP	G	A	A	rs143345887	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38798389G>A	uc002ohz.2	-	5	592	c.543C>T	c.(541-543)ttC>ttT	p.F181F	YIF1B_uc002ohw.2_Silent_p.F150F|YIF1B_uc002ohx.2_Silent_p.F166F|YIF1B_uc010xtx.1_Silent_p.F164F|YIF1B_uc010xty.1_Silent_p.F150F|YIF1B_uc002oia.2_Silent_p.F178F|YIF1B_uc002ohy.2_Silent_p.F178F|YIF1B_uc002oib.3_Silent_p.F178F	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	181						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTCTGGGGAGAACCTGCAGG	0.642000														43			4		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72291988	72291988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72291988G>A	uc010rrc.2	-	23	2321	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	PDE2A_uc001oso.3_Missense_Mutation_p.S671F|PDE2A_uc010rra.2_Missense_Mutation_p.S685F|PDE2A_uc001osn.3_Missense_Mutation_p.S436F|PDE2A_uc010rrb.2_Missense_Mutation_p.S683F|PDE2A_uc010rrd.2_Missense_Mutation_p.S577F	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	692	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACACATGCAGGAAATAAACAA	0.532000														162			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181151	140181151	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140181151G>A	uc003lhf.2	+	0	369	c.369G>A	c.(367-369)gtG>gtA	p.V123V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.V123V	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	138	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGAAGTGAAGGACATTA	0.557000														120			21		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588121	247588121	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247588121A>G	uc001icr.3	+	4	1514	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	NLRP3_uc001ics.3_Missense_Mutation_p.E459G|NLRP3_uc001icu.3_Missense_Mutation_p.E459G|NLRP3_uc001icw.3_Missense_Mutation_p.E459G|NLRP3_uc001icv.3_Missense_Mutation_p.E459G|NLRP3_uc010pyw.2_Missense_Mutation_p.E457G|NLRP3_uc001ict.1_Missense_Mutation_p.E457G	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	459	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.Q458K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGAGCCAGGAGCACGGCCTC	0.587000														30			3		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613365	61613365	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61613365C>T	uc002jay.3	+	5	1517	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	KCNH6_uc002jax.1_Silent_p.F479F|KCNH6_uc010wpl.2_Silent_p.F356F|KCNH6_uc010wpm.2_Silent_p.F479F|KCNH6_uc002jaz.1_Silent_p.F426F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	479					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)	GCGTGGGCTTCGGCAATGTCT	0.597000														66			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720640	140720640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140720640C>T	uc003ljk.2	+	0	2287	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.S701F|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	702					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)			GCCGCGGTCTCCTGCGTCTTC	0.662000														127			9		0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51012139	51012139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51012139G>A	uc001zyv.3	-	13	1666	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	496						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GCACATACCTGATAGCTGTTA	0.393000														36			11		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74590268	74590268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74590268G>A	uc002skx.3	-	28	3700	c.3382C>T	c.(3382-3384)Cct>Tct	p.P1128S	SLC4A5_uc002skl.3_Non-coding_Transcript|DCTN1_uc002skt.2_Missense_Mutation_p.P62S|DCTN1_uc002skv.3_Missense_Mutation_p.P994S|DCTN1_uc002sku.3_Missense_Mutation_p.P989S|DCTN1_uc002skw.2_Missense_Mutation_p.P1121S|DCTN1_uc010ffd.3_Missense_Mutation_p.P1103S|DCTN1_uc002sky.3_Missense_Mutation_p.P1086S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	1128					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACATGCAGAGGGGGCAGGGAT	0.532000														49			4		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42012094	42012094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:42012094G>A	uc011kbh.2	-	12	2036	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	GLI3_uc011kbg.2_Missense_Mutation_p.R590W	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	649					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGTGGCGGCCGAGGATGGATG	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					100			9		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525813	248525813	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248525813A>T	uc001ieh.1	+	0	931	c.931A>T	c.(931-933)Acc>Tcc	p.T311S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	311					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)			TGTCTTCTATACCATCCTCAC	0.478000														44			10		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657540	72657540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72657540C>T	uc003txs.1	-	12	2372	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		cattgcaggtcgataacctcc	0.502000														182			23		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4711405	4711405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4711405C>T	uc002fzc.3	+	2	362	c.236C>T	c.(235-237)tCc>tTc	p.S79F	PLD2_uc010vsj.2_5'UTR|PLD2_uc002fzd.3_Missense_Mutation_p.S79F	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	79	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCAGCGGATCCAAGGTGGCC	0.632000														82			12		0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62458830	62458830	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62458830G>A	uc001nut.4	-	7	1529	c.927C>T	c.(925-927)ttC>ttT	p.F309F	LRRN4CL_uc001nun.3_5'Flank|LRRN4CL_uc021qkm.1_5'Flank|BSCL2_uc001nup.3_Silent_p.F245F|BSCL2_uc009yoc.2_Intron|BSCL2_uc001nur.4_Silent_p.F309F|BSCL2_uc009yod.3_Silent_p.F309F|HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	245					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TGACGCTGAGGAAGGTGAAGT	0.567000														388			29		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702340	27702340	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27702340C>T	uc001itu.2	-	0	958	c.840G>A	c.(838-840)ctG>ctA	p.L280L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	280					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGATGCTGCTCAGGTTGAGCG	0.627000														47			5		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160293284	160293284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160293284G>A	uc001fvv.4	-	7	1037	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	COPA_uc009wti.3_Missense_Mutation_p.P215S|COPA_uc009wtj.1_Missense_Mutation_p.P161S	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	215					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCATAGTGGGGTGGAAGGCA	0.438000														30			3		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161471000	161471000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161471000C>T	uc003qtn.3	+	2	1838	c.1696C>T	c.(1696-1698)Cgt>Tgt	p.R566C	MAP3K4_uc010kkc.1_Missense_Mutation_p.R566C|MAP3K4_uc003qto.3_Missense_Mutation_p.R566C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	566			R -> H (in dbSNP:rs55765351).		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.D565Y(1)		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)		AAAGAACGATCGTCCAGTGGA	0.358000														24			5		0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36809042	36809042	+	Silent	SNP	G	A	A	rs111658119	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36809042G>A	uc001cak.1	-	10	1419	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	STK40_uc001cal.1_Silent_p.L343L|STK40_uc001cam.1_Silent_p.L338L|STK40_uc001can.1_Silent_p.L338L	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	338						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				AGAGATGACAGGGACTGCCTG	0.567000														22			3		0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161198855	161198855	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161198855C>T	uc001fzd.3	+	9	1126	c.897C>T	c.(895-897)ttC>ttT	p.F299F	TOMM40L_uc010pkl.1_Silent_p.F265F|TOMM40L_uc009wue.3_Silent_p.F181F|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Silent_p.F299F	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	299	Required for mitochondrial targeting (By similarity).				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCAACAGATTCCATTGTGGCT	0.572000														71			13		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206790	49206790	+	Missense_Mutation	SNP	G	A	A	rs148371614	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49206790G>A	uc002pke.4	+	1	688	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	FUT2_uc010emc.3_Missense_Mutation_p.G193S|FUT2_uc021uwx.1_Missense_Mutation_p.G193S	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	193					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)		GAGCCGGCCGGGCACCTTTGT	0.652000														62			4		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76111857	76111857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76111857C>T	uc011kgk.1	+	2	380	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	DTX2_uc003uff.4_Missense_Mutation_p.P101S|DTX2_uc003ufg.4_Missense_Mutation_p.P101S|DTX2_uc003ufh.4_Missense_Mutation_p.P101S|DTX2_uc003ufj.4_Missense_Mutation_p.P101S	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	101	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACACCTGTTCCCCCAGCACTC	0.552000														63			14		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810924	7810924	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7810924C>T	uc002mht.2	-	3	295	c.228G>A	c.(226-228)gcG>gcA	p.A76A	CD209_uc010xju.1_Silent_p.A76A|CD209_uc010dvp.2_Silent_p.A52A|CD209_uc002mhr.2_Silent_p.A52A|CD209_uc002mhs.2_Silent_p.A52A|CD209_uc002mhu.2_Silent_p.A76A|CD209_uc010dvq.2_Silent_p.A76A|CD209_uc002mhq.2_Silent_p.A76A|CD209_uc002mhv.2_Silent_p.A52A|CD209_uc002mhx.2_Silent_p.A32A|CD209_uc002mhw.2_Silent_p.A32A|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	76					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTGGTAGATCGCGTCTTGCC	0.512000														149			11		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56043514C>T	uc001nio.1	+	0	400	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000														40			10		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239849	21239849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:21239849G>A	uc010mis.3	-	0	130	c.86C>T	c.(85-87)aCc>aTc	p.T29I	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	29					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGGCTGTGGGTTTGAGACAG	0.493000														15			4		0	0	1	0	0
MYCL1	4610	broad.mit.edu	37	1	40363568	40363568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40363568C>T	uc001cer.2	-	2	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	MYCL1_uc001ces.2_Missense_Mutation_p.V191M	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCTGCTCGCACCGTGATGGTG	0.502000			A		small cell lung									88			10		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33682473	33682473	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:33682473C>T	uc021qfs.1	+	18	5305	c.5181C>T	c.(5179-5181)ttC>ttT	p.F1727F		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1727						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CCGGCTACTTCATCCCAACGC	0.572000														17			4		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785406	111785406	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:111785406C>T	uc001tsa.2	+	21	3892	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1246						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTCCTGGAATCCTACCGCCAG	0.652000														80			5		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593450	137593450	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137593450G>A	uc003lcn.3	-	3	803	c.663C>T	c.(661-663)gcC>gcT	p.A221A	GFRA3_uc003lco.3_Silent_p.A190A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	221					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGTCGTTGGGGGCACATGGGC	0.726000														37			7		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919295	130919295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130919295G>A	uc001uil.2	-	10	2402	c.2186C>T	c.(2185-2187)tCt>tTt	p.S729F	RIMBP2_uc001uim.3_Missense_Mutation_p.S637F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	729						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCAAGTTCAGAGCCTTTCAG	0.667000														130			7		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326413	85326413	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:85326413C>T	uc002bld.3	+	3	843	c.507C>T	c.(505-507)ttC>ttT	p.F169F	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	169					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGTTATTTCCCACCCCCTC	0.512000														146			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047995	9047995	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9047995G>A	uc002mkp.3	-	4	33840	c.33636C>T	c.(33634-33636)gtC>gtT	p.V11212V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11214	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						CAGAACTAGTGACCAGTGAAG	0.488000														10			4		0	0	1	0	0
RNF141	50862	broad.mit.edu	37	11	10546848	10546848	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:10546848C>G	uc001mis.1	-	3	478	c.325G>C	c.(325-327)Gat>Cat	p.D109H	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	109							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CTTGTGATATCTTTATAAAGT	0.378000														42			4		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431444	106431444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:106431444G>A	uc003ymd.3	+	1	136	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	38					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCTCCAAAGGAGACTTTCCA	0.423000														19			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020092	9020092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9020092C>T	uc002mkp.3	-	20	37607	c.37403G>A	c.(37402-37404)aGc>aAc	p.S12468N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12470	SEA 3.				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						GAGTCCAGGGCTTTTGGGGTC	0.542000														58			16		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147377	129147377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129147377C>T	uc022cdu.1	+	2	673	c.629C>T	c.(628-630)tCg>tTg	p.S210L	BCORL1_uc010nrd.1_Missense_Mutation_p.S112L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	210	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						GCTCCCGGTTCGGCCTCTGTG	0.617000														80			10		0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69105771	69105771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:69105771C>T	uc003dno.3	-	13	1095	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	UBA3_uc003dnq.3_Missense_Mutation_p.E345K|UBA3_uc011bfy.2_Missense_Mutation_p.E182K|UBA3_uc011bfz.2_Missense_Mutation_p.E182K	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	359					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACCTTTCTTTCTGCTTCAAAT	0.279000														55			9		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367603	142367603	+	Missense_Mutation	SNP	G	A	A	rs150581192		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142367603G>A	uc022bby.1	-	0	421	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	GPR20_uc003ywf.3_Missense_Mutation_p.L141F	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	141						integral to plasma membrane	G-protein coupled receptor activity	p.F140F(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ATGCAGGTGAGGAAGAGGATG	0.677000														30			4		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495302	205495302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205495302G>A	uc001hcr.3	+	5	918	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	CDK18_uc010pri.2_Silent_p.P209P|CDK18_uc001hcp.3_Missense_Mutation_p.R189Q|CDK18_uc001hcq.3_Missense_Mutation_p.R189Q|CDK18_uc010prj.2_Missense_Mutation_p.R100Q|CDK18_uc001hcs.3_Missense_Mutation_p.R100Q|CDK18_uc009xbm.1_Missense_Mutation_p.R100Q	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	187	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACTGCCATCCGAGAGGGTACA	0.627000														22			5		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184777334	184777334	+	Silent	SNP	G	A	A	rs149201304	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:184777334G>A	uc001gra.3	-	9	1403	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	FAM129A_uc001grb.1_Silent_p.S166S|FAM129A_uc009wyh.1_Silent_p.S231S|FAM129A_uc009wyi.1_Silent_p.S201S	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	403					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCATCTTCACGGAATGCAGCG	0.468000														43			6		0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21086927	21086928	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:21086927_21086928CT>TA	uc002gyo.3	+	3	374_375	c.330_331CT>TA	c.(328-333)tacttg>taTAtg	p.L111M		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	111						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						ACAAGCCTTACTTGGTGACCTT	0.500000														31			4		0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103431343	103431343	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103431343C>T	uc010fjb.3	+	4	793	c.606C>T	c.(604-606)ttC>ttT	p.F202F	TMEM182_uc002tcc.4_Silent_p.F159F|TMEM182_uc002tcd.4_Silent_p.F106F|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	202						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGTCATTTTTCCTGGCCCCAG	0.448000														13			8		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761339	26761339	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26761339G>A	uc003acb.3	+	13	2796	c.2600_splice	c.e13-1	p.S867_splice	SEZ6L_uc003acd.3_Splice_Site_p.T803_splice|SEZ6L_uc011akd.2_Splice_Site_p.S867_splice|SEZ6L_uc003ace.3_Intron|SEZ6L_uc011akc.2_Splice_Site_p.S867_splice|SEZ6L_uc003acc.3_Splice_Site_p.S867_splice|SEZ6L_uc003acf.1_Splice_Site_p.S640_splice|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.2_Splice_Site	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	867	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCATTTCAGCGGAGGAGTCCC	0.532000														127			6		0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42065035	42065035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:42065035C>T	uc003gwl.3	+	10	1075	c.929C>T	c.(928-930)tCg>tTg	p.S310L	SLC30A9_uc011byx.2_Missense_Mutation_p.S70L	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	310					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.S310S(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATATTTCTTCGCTAATTAGT	0.348000														70			8		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945067	45945067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45945067G>A	uc001nbv.1	+	2	440	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R79Q|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R110Q	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	110					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		AACTCCAGCCGAGACGTCATC	0.642000														97			13		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066487	18066487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:18066487C>T	uc003stz.3	-	0	1000	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	307					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAAACAGATTCCCCATTATGA	0.348000														161			40		0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13466629	13466629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:13466629G>A	uc001mkz.3	-	1	300	c.43C>T	c.(43-45)Cca>Tca	p.P15S	BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Intron|BTBD10_uc009ygo.3_Intron	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	15						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CAATTCTCTGGATCACTGGAG	0.438000														35			4		0	0	1	0	0
CRIPT	9419	broad.mit.edu	37	2	46851359	46851359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:46851359C>T	uc002rve.3	+	4	396	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_014171	NP_054890	Q9P021	CRIPT_HUMAN	Homo sapiens cysteine-rich PDZ-binding protein (CRIPT), mRNA.	100	PDZ3-binding.|Sufficient for interaction with DLG4.					cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGCAAACATCTGTCTAGATG	0.328000														26			16		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927965	6927965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6927965G>A	uc010clt.1	+	3	709	c.647G>A	c.(646-648)aGa>aAa	p.R216K	BCL6B_uc002geg.2_Missense_Mutation_p.R216K	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	216						nucleus	zinc ion binding			skin(1)	1						GTCGGGGAGAGAAGTTCTGGT	0.597000														75			11		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4704291	4704291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4704291G>A	uc002mba.3	-	5	710	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	122					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCTCCCGAGAGTAGACCCC	0.642000														112			19		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2969707	2969707	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2969707G>A	uc003smv.3	-	12	1905	c.1571_splice	c.e12-1	p.A524_splice		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	524					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)		CGTGCCCCTTGGCTGTCCTCA	0.607000			Mis		DLBCL									52			6		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108130	64108130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64108130G>A	uc001nzy.3	+	1	161	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CCDC88B_uc009ypo.2_Missense_Mutation_p.E38K|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	38	Poly-Glu.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ggagggggaagaagaggaaga	0.662000														71			6		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47309289	47309289	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47309289G>A	uc002xtw.1	-	7	980	c.957C>T	c.(955-957)tcC>tcT	p.S319S		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	319	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGCCGTTGATGGATTTGGTCC	0.537000														92			10		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612707	53612707	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53612707G>A	uc002qax.3	-	6	1084	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF415_uc010yds.2_Silent_p.F197F|ZNF415_uc010ydt.2_Silent_p.F197F|ZNF415_uc002qau.3_Silent_p.F184F|ZNF415_uc002qav.3_Silent_p.F209F|ZNF415_uc002qaw.3_Silent_p.F197F|ZNF415_uc002qay.3_Silent_p.F184F|ZNF415_uc002qaz.3_Silent_p.F245F|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AAGAACAGATGAAATCAGTCC	0.378000														48			8		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590499	140590499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140590499C>T	uc003liz.3	+	0	2209	c.2020C>T	c.(2020-2022)Ccg>Tcg	p.P674S	PCDHB12_uc011dak.2_Missense_Mutation_p.P337S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	674					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCTCTCCCGGAGGCGGC	0.692000														70			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455254	76455254	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76455254G>A	uc010dhp.2	-	60	9815	c.9690C>T	c.(9688-9690)ttC>ttT	p.F3230F	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGAGCGGATGAACTCGGGGT	0.657000														384			20		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40979300	40979300	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:40979300C>T	uc002xkg.3	-	10	2017	c.1833G>A	c.(1831-1833)ctG>ctA	p.L611L	PTPRT_uc010ggj.3_Silent_p.L611L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	611	Fibronectin type-III 4.				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			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)				GAGCGGGTTTCAGCATCACTG	0.532000														47			8		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168265363	168265363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:168265363C>T	uc021zik.1	+	1	431	c.112C>T	c.(112-114)Cga>Tga	p.R38*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.R80*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.R80*|MLLT4_uc021zij.1_Nonsense_Mutation_p.R80*|MLLT4_uc021zil.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	80					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGAGAAATTTCGACCTGATAT	0.453000			T	MLL	AL									117			22		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21039976	21039976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21039976G>A	uc001bdr.4	-	2	569	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	KIF17_uc001bds.4_Missense_Mutation_p.L151F	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	151	Kinesin-motor.				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)		TCAGCCCCAAGGAGGTCCCGG	0.582000														17			6		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226578131	226578131	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226578131G>A	uc001hqd.4	-	3	768	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	199					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGACTCCTGGGAGCTGCTTCT	0.597000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						38			8		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907340	164907340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:164907340C>T	uc003fej.4	-	1	1723	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N	SLITRK3_uc003fek.3_Missense_Mutation_p.D427N|SLITRK3_uc021xgy.1_Missense_Mutation_p.D427N	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	427						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCCAAAAATCAGAACGGTAT	0.393000										HNSCC(40;0.11)				25			4		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846132	128846133	+	Missense_Mutation	DNP	GG	AC	AC	rs141792785		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128846132_128846133GG>AC	uc003vor.3	+	4	1342_1343	c.1062_1063GG>AC	c.(1060-1065)tcgggc>tcACgc	p.G355R	SMO_uc003vos.3_Missense_Mutation_p.G30R	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	355					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCCTCTCTCGGGCAAGACCTC	0.574000			Mis		skin basal cell									101			5		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:8115874C>T	uc001ijz.3	+	5	1780	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	GATA3_uc001ika.3_Missense_Mutation_p.S407L	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	407					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							72			9		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51749712	51749712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51749712G>A	uc001ryk.2	-	9	1858	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R545C|GALNT6_uc001ryj.1_Missense_Mutation_p.R110C	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	545	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGTTGTGGCGAAGGTCCCTC	0.542000														73			4		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10291130	10291130	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10291130C>T	uc011atr.2	+	1	827	c.246C>T	c.(244-246)tcC>tcT	p.S82S	TATDN2_uc003bvg.2_Silent_p.S82S|TATDN2_uc003bvf.3_Silent_p.S82S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	82						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACTCCTCCTCCTCCTTCTCCC	0.632000														168			12		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400425	10400425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10400425C>T	uc003bvt.3	-	13	2525	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E651K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E651K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E401K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	696					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGTGAGTTCGTTGAGGATG	0.657000														36			4		0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80467379	80467379	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:80467379C>T	uc002bfm.2	+	9	1023	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	FAH_uc002bfn.2_Silent_p.L217L|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	287					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCCGTATCTGTGCCATGA	0.592000									Tyrosinemia, type 1					114			8		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1094084	1094084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1094084G>A	uc002qwq.3	+	3	442	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	105	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAAAATATTCGAAGACCAAGC	0.388000														72			5		0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58179124	58179124	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58179124G>A	uc003djo.1	-	6	844	c.747C>T	c.(745-747)ccC>ccT	p.P249P	DNASE1L3_uc011bfd.1_Silent_p.P219P|DNASE1L3_uc003djp.1_Silent_p.P249P|DNASE1L3_uc003djq.1_Silent_p.P249P	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	249					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGTTTGACTTGGGAACAACAG	0.433000														50			8		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134366291	134366291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:134366291C>T	uc010hty.3	-	1	247	c.185G>A	c.(184-186)gGa>gAa	p.G62E	KY_uc011blw.2_Missense_Mutation_p.G62E|KY_uc011blx.2_Missense_Mutation_p.G62E|KY_uc003eqs.1_Missense_Mutation_p.G103E	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	62						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AAAGTCATTTCCTTCTAATTT	0.378000														19			3		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094725	30094725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30094725C>T	uc002dwe.3	+	5	449	c.314C>T	c.(313-315)cCt>cTt	p.P105L	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.P105L	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	105					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GTTCGCTATCCTGATCGCATC	0.622000														94			6		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604419	64604419	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64604419C>T	uc001obs.4	-	9	1278	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	426					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCAGCTCCACCTTCTCCTGCT	0.642000														72			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075336	9075336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9075336G>A	uc002mkp.3	-	2	12314	c.12110C>T	c.(12109-12111)tCc>tTc	p.S4037F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4039	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						GGAACCTGGGGAAGAGATAAT	0.483000														43			7		0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47604163	47604163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47604163G>A	uc003crp.4	-	4	1804	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	CSPG5_uc003crm.3_Non-coding_Transcript|CSPG5_uc003crn.3_Missense_Mutation_p.S378L|CSPG5_uc003cro.4_Missense_Mutation_p.S516L|CSPG5_uc021wxh.1_3'UTR|CSPG5_uc021wxi.1_Missense_Mutation_p.S378L|CSPG5_uc011bbb.2_Missense_Mutation_p.S405L	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	543					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAGTTTGGGCGACATGGAGTT	0.493000														124			9		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284534	45284534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45284534G>A	uc002ozs.3	+	2	634	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	CBLC_uc010ejt.3_Missense_Mutation_p.A191T	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	191	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGGCTGCACAGCCCTGGCCTT	0.642000			M		AML									536			72		0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15541735	15541735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15541735C>T	uc001avw.4	+	2	671	c.152C>T	c.(151-153)aCc>aTc	p.T51I	TMEM51_uc010obk.2_Missense_Mutation_p.T51I|TMEM51_uc001avz.3_Missense_Mutation_p.T51I|TMEM51_uc001avy.3_Missense_Mutation_p.T51I|TMEM51_uc001avx.3_Missense_Mutation_p.T51I	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	51						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCAACAAGACCGAGGTGGGT	0.627000														159			29		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234847758	234847758	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234847758C>T	uc002vvh.3	+	4	505	c.465C>T	c.(463-465)ttC>ttT	p.F155F	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.F105F|TRPM8_uc002vvj.3_Silent_p.F78F	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	155						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCAAGAACTTCGCCCTGAAGC	0.607000														53			13		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996141	140996141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140996141C>T	uc004fbt.3	+	3	3275	c.2951C>T	c.(2950-2952)tCt>tTt	p.S984F	MAGEC1_uc010nsl.2_Missense_Mutation_p.S51F|MAGEC1_uc022cfi.1_Missense_Mutation_p.S643F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	984	MAGE.						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)					GACCTCACCTCTGAGGGGTGT	0.478000										HNSCC(15;0.026)				58			7		0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068962	157068962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157068962C>T	uc001fqq.2	-	1	552	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	89						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TGTCATAATTCATCTGTGGTT	0.577000														39			4		0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77076405	77076405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77076405C>T	uc002jwv.3	+	4	690	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	ENGASE_uc002jwu.1_Missense_Mutation_p.R228C|ENGASE_uc010wtz.1_Missense_Mutation_p.R42C|ENGASE_uc002jww.3_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	228						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.R228H(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCAGTTTTTTCGTTTTGATGG	0.607000														55			12		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328936	3328936	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3328936C>T	uc001akf.3	+	8	2257	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	PRDM16_uc001ake.3_Silent_p.F725F|PRDM16_uc009vlh.3_Silent_p.F426F|PRDM16_uc001akc.3_Silent_p.F725F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	725	Interaction with CTBP1 and CTBP2 (By similarity).				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	p.A724S(1)		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)		ACTCGGCGTTCCCCTTCCAGT	0.617000			T	EVI1	"""MDS, AML"""									57			11		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342667	65342667	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:65342667T>C	uc003dmn.3	-	22	4301	c.3775A>G	c.(3775-3777)Aag>Gag	p.K1259E	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1288					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGCCCGCTTTTCCCCATGT	0.582000														111			6		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61906362	61906362	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61906362C>T	uc001nsw.1	+	6	1378	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	INCENP_uc009ynw.1_Silent_p.V392V|INCENP_uc001nsx.1_Silent_p.V392V	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	392					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCCACAGGTCCCTGAGAACA	0.587000														107			9		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385312	21385312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21385312G>A	uc002zud.3	-	1	858	c.790C>T	c.(790-792)Cca>Tca	p.P264S	SLC7A4_uc002zue.3_Missense_Mutation_p.P264S	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	264					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCGCCGTGGGTTCTGGGCC	0.627000														37			5		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51040272	51040272	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:51040272C>T	uc003bmx.3	+	1	237	c.120C>T	c.(118-120)atC>atT	p.I40I	MAPK8IP2_uc003bmy.3_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	40					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCTGAGATCACTGATGACT	0.562000														78			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532833	92532833	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92532833C>T	uc001pdj.4	+	8	6671	c.6654C>T	c.(6652-6654)atC>atT	p.I2218I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2218	Cadherin 20.				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)				GCCAAGGCATCATATATATCA	0.403000										TCGA Ovarian(4;0.039)				114			15		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335656	117335656	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117335656A>T	uc001prh.1	-	17	3447	c.3445_splice	c.e17+1	p.V1149_splice		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1089	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGGCCCTCACCATCCTCCA	0.632000														28			3		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70679469	70679469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70679469G>A	uc004dzu.4	+	35	5180	c.5129G>A	c.(5128-5130)aGt>aAt	p.S1710N	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S1731N|TAF1_uc004dzv.4_Missense_Mutation_p.S918N|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.S135N|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	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.	1710	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)				CCTCAAGCCAGTGTCCTGTAT	0.468000														31			11		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32636340	32636340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32636340G>A	uc010ogy.2	+	13	1498	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	KPNA6_uc001bug.3_Missense_Mutation_p.E486K|KPNA6_uc001buh.3_Missense_Mutation_p.E261K|KPNA6_uc010ogx.2_Missense_Mutation_p.E483K	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	486					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCAGAGCCACGAGAACCAGGA	0.478000														59			15		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100104391	100104391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100104391C>T	uc004egj.3	-	10	1527	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	NOX1_uc004egl.4_Intron|NOX1_uc010nne.3_Missense_Mutation_p.E404K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	441	Interaction with NOXO1.				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						GCACCTGTCTCCCTGCAGATC	0.438000														10			4		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657514	72657514	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72657514C>T	uc003txs.1	-	12	2398	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		cgtatttcgtcttcaggaccg	0.502000														199			22		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872921	51872921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:51872921C>T	uc002xwo.3	+	1	3811	c.2924C>T	c.(2923-2925)tCg>tTg	p.S975L	TSHZ2_uc021wex.1_Missense_Mutation_p.S972L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	975					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)			TCCCGGGTATCGTCGGCTCAG	0.493000														42			5		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218947900	218947900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218947900G>A	uc010fvl.2	+	10	1941	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	RUFY4_uc002vgw.3_Missense_Mutation_p.D302N	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	475							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGAGAGGAGGGATGCCATGTA	0.597000														67			6		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91552125	91552125	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:91552125G>A	uc001tbt.3	-	3	740	c.486C>T	c.(484-486)atC>atT	p.I162I	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Silent_p.I162I	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	162					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GCACTTTGGTGATCTCATTCT	0.383000														109			7		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067273	44067273	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:44067273G>A	uc002ijr.4	+	7	1534	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	MAPT_uc010dau.3_Silent_p.L404L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	404					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTAAAACCTTGAAAAATAGGC	0.463000														190			34		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406788	140406788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:140406788G>A	uc003eto.2	+	2	1470	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	422						intracellular	zinc ion binding	p.N421S(1)|p.N421I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAGTGAACGAGATGGATGG	0.478000														12			4		0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53646906	53646906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53646906C>T	uc001sch.2	+	1	755	c.608C>T	c.(607-609)tCc>tTc	p.S203F	MFSD5_uc001sci.2_Missense_Mutation_p.S96F|MFSD5_uc021qye.1_Missense_Mutation_p.S96F	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	96					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTAGTGGCCTCCTCCCTTGTG	0.478000														292			30		0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40269426	40269426	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40269426G>A	uc002hyx.2	-	9	1677	c.1617C>T	c.(1615-1617)atC>atT	p.I539I		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	539	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGAGGCGGGCGATATACTCCT	0.627000														48			4		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525921	176525921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176525921G>A	uc001gkz.3	+	1	1627	c.463G>A	c.(463-465)Gag>Aag	p.E155K	PAPPA2_uc001gky.1_Missense_Mutation_p.E155K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	155					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAGATCCAAGGAGTCTCTAGG	0.542000														69			4		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52365244	52365244	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52365244C>T	uc011bef.2	+	6	1213	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	DNAH1_uc003ddt.1_Silent_p.L318L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	318	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGCTATACCTGGTACACAA	0.552000														18			3		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848925	73848925	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73848925G>A	uc003xzb.3	+	2	1923	c.1335G>A	c.(1333-1335)agG>agA	p.R445R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	445					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			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)			GGGCCAAAAGGAACGGAAGCA	0.448000														57			13		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994898	108994898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:108994898G>A	uc002tea.1	+	0	478	c.105G>A	c.(103-105)tgG>tgA	p.W35*	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Nonsense_Mutation_p.W35*	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	35					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GTGACATCTGGGATAAGATCT	0.473000														126			21		0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80845037	80845037	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:80845037C>T	uc002bfr.3	+	9	1177	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	ARNT2_uc010unm.2_Silent_p.F326F|ARNT2_uc002bfs.3_Silent_p.F326F	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	337	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACAGAGTTCTTATCCCGGC	0.493000														46			7		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746292	1746292	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1746292C>T	uc003gdo.3	+	13	2426	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	TACC3_uc003gdp.3_Silent_p.I397I	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	757						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TGGCAAGGATCACCCAGGAGG	0.612000														35			6		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45487413	45487413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45487413G>A	uc001jbp.3	+	8	2510	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	RASSF4_uc001jbo.3_Missense_Mutation_p.E290K|RASSF4_uc009xmn.3_Missense_Mutation_p.E220K|RASSF4_uc001jbq.3_Missense_Mutation_p.E187K|RASSF4_uc001jbt.3_Missense_Mutation_p.E247K			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	290					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAATTAAAAGAAGAGGAAGA	0.388000														73			9		0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77079887	77079887	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77079887C>T	uc002jwv.3	+	9	1304	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	ENGASE_uc002jww.3_Silent_p.I138I	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	432						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCCAGGAGATCCAGCCCTTGT	0.657000														67			25		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706323	30706323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30706323C>T	uc003xil.3	-	0	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TEX15_uc011lbc.2_Missense_Mutation_p.E458K	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	71										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCAAAACCTCATTTAAGCCT	0.408000														42			4		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156354372	156354372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156354372G>A	uc010pho.2	+	9	1326	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.R361Q|RHBG_uc009wrz.3_Missense_Mutation_p.R398Q|RHBG_uc001for.3_Missense_Mutation_p.R400Q	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	0					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.L429R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCAGCACTACGAGGACCAAGT	0.617000											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			5		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680181	48680181	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48680181G>A	uc002irk.1	+	20	4288	c.3916_splice	c.e20-1	p.E1306_splice	CACNA1G_uc002iri.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irj.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irl.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irm.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irn.1_Splice_Site_p.E1283_splice|CACNA1G_uc002iro.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irp.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irq.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irr.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irs.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irt.1_Splice_Site_p.E1306_splice|CACNA1G_uc002iru.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irv.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irw.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irx.1_Splice_Site_p.E1219_splice|CACNA1G_uc002iry.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isg.1_Splice_Site_p.E1219_splice|CACNA1G_uc002ish.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isi.1_Splice_Site_p.E1196_splice|CACNA1G_uc002irz.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isa.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isd.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isb.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isc.1_Splice_Site_p.E1219_splice|CACNA1G_uc002ise.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isf.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isj.3_Splice_Site_p.E30_splice	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1306					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)	TCTCTTGCAGGAACGCATCTT	0.552000														37			4		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599252	50599252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50599252C>T	uc003bjj.3	+	24	3543	c.3460C>T	c.(3460-3462)Cga>Tga	p.R1154*	MOV10L1_uc003bjk.4_Intron|MOV10L1_uc011arp.2_Nonsense_Mutation_p.R1134*|MOV10L1_uc003bjl.3_Nonsense_Mutation_p.R281*	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1154					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.R1154*(2)|p.R1154Q(1)		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)		TGTTCTCGTTCGAGTGAGTTT	0.507000														71			6		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090197	34090197	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34090197G>A	uc001bxm.1	-	34	5724	c.5547C>T	c.(5545-5547)tcC>tcT	p.S1849S	CSMD2_uc001bxn.1_Silent_p.S1809S|CSMD2_uc001bxo.1_Silent_p.S722S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1809	CUB 11.					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)				GGAAGCCAGGGGACAGGATGG	0.657000														84			14		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7082959	7082959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7082959C>T	uc002mga.3	+	7	982	c.497C>T	c.(496-498)tCc>tTc	p.S166F	ZNF557_uc002mgb.3_Missense_Mutation_p.S159F|ZNF557_uc002mgc.3_Missense_Mutation_p.S166F	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ACAAAATCTTCCCTTACACGG	0.408000														14			6		0	0	1	0	0
C15orf29	79768	broad.mit.edu	37	15	34445233	34445233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34445233G>A	uc001zhp.3	-	3	356	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	C15orf29_uc010ubz.2_5'UTR|C15orf29_uc010uca.1_Missense_Mutation_p.R66C	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	66						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		ATCACTTTACGAAGTTTATCT	0.348000														57			11		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33397598	33397598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:33397598C>T	uc003tdn.1	+	15	2197	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	BBS9_uc003tdo.1_Missense_Mutation_p.L527F|BBS9_uc003tdp.1_Missense_Mutation_p.L557F|BBS9_uc003tdq.1_Missense_Mutation_p.L522F|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.L86F|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.L440F	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	562					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L562L(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCTTCTTAGTCTCTTCCCAGG	0.383000									Bardet-Biedl syndrome					11			4		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38317994	38317994	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38317994C>T	uc003aui.3	+	5	860	c.585C>T	c.(583-585)tcC>tcT	p.S195S		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	195	LIM zinc-binding.					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)					GGCGGTGCTCCAGCACCCTGC	0.677000														93			5		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476448	476448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:476448C>T	uc003jbe.2	-	12	2048	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	SLC9A3_uc011clx.1_Missense_Mutation_p.E637K|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	646	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.D645D(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCTGTTTCTCGTCCTCCGTG	0.612000														81			21		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529719	5529719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5529719C>T	uc021qcw.1	-	0	1070	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.G357E	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	357										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGATAAGTTCCTAGGGACTG	0.493000														109			10		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175451	117175451	+	Missense_Mutation	SNP	G	A	A	rs121908804		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:117175451G>A	uc003vjd.3	+	5	861	c.729G>A	c.(727-729)atG>atA	p.M243I	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	243	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.M243I(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TAGGGAGAATGATGATGAAGT	0.423000									Cystic Fibrosis					15			4		0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35751721	35751721	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35751721C>T	uc011lpf.2	+	6	880	c.732C>T	c.(730-732)aaC>aaT	p.N244N	GBA2_uc003zxw.3_5'Flank|GBA2_uc011lpd.2_5'Flank|GBA2_uc011lpb.1_5'Flank|GBA2_uc011lpc.1_5'Flank|DQ589555_uc022bgn.1_5'Flank	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Homo sapiens RGP1 retrograde golgi transport homolog (S. cerevisiae) (RGP1), mRNA.	244										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGACCTTAAACTTAGGGGAAG	0.517000														89			5		0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800278	152800278	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152800278C>T	uc010pdw.2	+	0	330	c.330C>T	c.(328-330)tgC>tgT	p.C110C		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	110	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGCTGCTGCTGAAGCGGAC	0.617000														16			3		0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913865	160913865	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:160913865G>A	uc003qtj.2	-	2		c.456C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCAGAGGCACGAACACAGTCC	0.507000														28			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140220999	140220999	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140220999C>T	uc003lhs.2	+	0	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.L31L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	44					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)			GCGGCCAGCTCCACTACTCCG	0.637000														42			10		0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716968	105716968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105716968G>A	uc010tyq.2	+	4	1525	c.1417G>A	c.(1417-1419)Gtc>Atc	p.V473I	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA.	473						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CGGGACTGGGGTCCAGGGTGG	0.597000														57			11		0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20907598	20907598	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:20907598G>A	uc002gym.4	-	11	1656	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	USP22_uc002gyn.4_Silent_p.I472I|USP22_uc002gyl.4_Silent_p.I379I	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	484					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TGTGCTGCCGGATAAAGCTGG	0.562000														45			5		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161928323	161928323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161928323C>T	uc001gbs.3	+	15	2009	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L		NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	631					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	p.S631L(2)		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)			ATCAAAAGTTCGTCAGTTCCT	0.517000														66			6		0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36553081	36553081	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36553081C>T	uc001bzr.3	+	7	1024	c.897C>T	c.(895-897)caC>caT	p.H299H	TEKT2_uc001bzs.3_Silent_p.H205H|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	299					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACATCCGGCACCTGGAGGAGG	0.622000														29			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994157	8994157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8994157C>T	uc002mkp.3	-	64	41732	c.41528G>A	c.(41527-41529)aGg>aAg	p.R13843K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R660K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13846	SEA 12.			Missing (in Ref. 3; AAK74120).	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						CAAGGTCAGCCTGCAGCCAGA	0.527000														29			6		0	0	1	0	0
AGPHD1	123688	broad.mit.edu	37	15	78805750	78805750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:78805750C>T	uc010unc.2	+	1	433	c.320C>T	c.(319-321)gCt>gTt	p.A107V	AGPHD1_uc002bdt.3_Missense_Mutation_p.A107V|AGPHD1_uc010ble.3_Missense_Mutation_p.A107V	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	107						cytoplasm	kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						GACAACACAGCTTCTCTCGTG	0.453000														47			8		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3735877	3735877	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3735877G>A	uc010xhv.2	+	8	1170	c.1170G>A	c.(1168-1170)agG>agA	p.R390R	TJP3_uc010xhs.2_Silent_p.R357R|TJP3_uc010xht.2_Silent_p.R321R|TJP3_uc010xhu.2_Silent_p.R366R|TJP3_uc010xhw.2_Silent_p.R376R	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	371						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTGCCCAGGGAAAGCAGCT	0.512000														113			37		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108475843	108475843	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:108475843C>T	uc010ywk.2	+	10	1549	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	489					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGGTATTTCTCCTTGGAGTAG	0.318000														62			8		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780446	94780446	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94780446C>T	uc001ycv.3	-	1	644	c.540G>A	c.(538-540)ggG>ggA	p.G180G	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	180					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CGACAATTTTCCCCTGTGTCT	0.478000														57			12		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139207533	139207533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139207533C>T	uc003yuy.3	-	8	1012	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	FAM135B_uc003yux.3_Missense_Mutation_p.E182K|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	281										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)			GAAAGTGTTTCTTCAACAGCA	0.408000										HNSCC(54;0.14)				79			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720293	140720293	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140720293C>T	uc003ljk.2	+	0	1940	c.1755C>T	c.(1753-1755)ggC>ggT	p.G585G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.G585G	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	586	Cadherin 6.				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)			CAGAGCCCGGCTACCTGGTGA	0.667000														99			8		0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42032201	42032201	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42032201A>G	uc003bao.1	+	3	350	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Missense_Mutation_p.K44E|XRCC6_uc003bar.2_Missense_Mutation_p.K94E	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	94					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CGAGAAAGACAAAAATTCAGT	0.333000								Non-homologous end-joining						41			7		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408933	105408933	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105408933G>A	uc010axc.1	-	6	12975	c.12855C>T	c.(12853-12855)tcC>tcT	p.S4285S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S4185S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4285						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCTAGGGACAGGTCAC	0.612000														254			28		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671056	49671056	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:49671056C>T	uc002efs.3	-	4	2305	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E	ZNF423_uc010vgn.2_Silent_p.E552E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	669					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGTCAAAGTCCTCTTTGCACT	0.557000														45			4		0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499602	129499602	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129499602C>T	uc004evr.1	+	8	1063	c.891C>T	c.(889-891)atC>atT	p.I297I	SLC25A14_uc010nrg.3_3'UTR|SLC25A14_uc011mut.2_3'UTR|SLC25A14_uc011muu.2_3'UTR|SLC25A14_uc004evp.1_Silent_p.I269I|SLC25A14_uc004evq.1_Silent_p.I266I	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	269					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGAGGGCAATCGTGGGACATG	0.453000														45			4		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227617	75227617	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:75227617C>T	uc003yae.3	-	1	658	c.618G>A	c.(616-618)aaG>aaA	p.K206K	JPH1_uc003yaf.3_Silent_p.K206K|JPH1_uc003yag.1_Silent_p.K70K	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	206					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)			CGCCCTTCTTCTTGCCCGCTA	0.652000														71			7		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160106361	160106361	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160106361G>A	uc001fvc.3	+	19	2696	c.2564_splice	c.e19-1	p.G855_splice	ATP1A2_uc001fvb.2_Splice_Site_p.G855_splice|ATP1A2_uc001fvd.3_Intron	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	855					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TACCCACAGGGATGATCCAGG	0.607000														61			4		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	307152	307152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:307152G>A	uc002lok.1	-	12	1592	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CCCGGGGGCCGGGCACGTGGG	0.677000														12			4		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207416	19207416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19207416G>A	uc021wle.1	-	17	2972	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	CLTCL1_uc021wld.1_Missense_Mutation_p.S966F|CLTCL1_uc021wlc.1_Missense_Mutation_p.S966F|CLTCL1_uc021wlf.1_Missense_Mutation_p.S966F|CLTCL1_uc011agw.1_Missense_Mutation_p.S966F	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	966	Heavy chain arm.|Proximal segment.				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	p.P965T(1)		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)					CTGTCTCCTGGATGGGTTGGT	0.527000			T	?	ALCL									70			12		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771980	143771980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143771980C>T	uc011ktx.2	+	0	668	c.668C>T	c.(667-669)gCc>gTc	p.A223V		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C222F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ATTCTATGTGCCATTCTAAAG	0.478000														77			11		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789932	25789932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25789932C>T	uc003gru.4	-	12	2283	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	SEL1L3_uc003grv.3_Missense_Mutation_p.E118K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	711						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGCTGCTTCGGGATTCTTG	0.463000														54			6		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991293	144991293	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144991293G>A	uc003zaf.1	-	31	13277	c.13107C>T	c.(13105-13107)ttC>ttT	p.F4369F	PLEC_uc003zab.1_Silent_p.F4232F|PLEC_uc003zac.1_Silent_p.F4236F|PLEC_uc003zad.2_Silent_p.F4232F|PLEC_uc003zae.1_Silent_p.F4200F|PLEC_uc003zag.1_Silent_p.F4210F|PLEC_uc003zah.2_Silent_p.F4218F|PLEC_uc003zaj.2_Silent_p.F4259F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4369	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						GCATGTCGGCGAACTCGGTGA	0.667000														54			11		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140113	50140113	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50140113G>A	uc002xwd.3	-	1	887	c.667C>T	c.(667-669)Cga>Tga	p.R223*	NFATC2_uc002xwc.3_Nonsense_Mutation_p.R223*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R4*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R4*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R203*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R203*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R4*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R4*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	223	3 X approximate SP repeats.				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)					AGGCTGGTTCGAGGTGACATT	0.647000														171			11		0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86014139	86014139	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:86014139C>T	uc001kdd.1	+	4	620	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RGR_uc001kdc.1_Silent_p.F190F|RGR_uc001kde.1_Silent_p.F190F	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	190					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGCCCCTCTTCATCACGATCA	0.542000														84			6		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682840	218682840	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218682840G>A	uc002vgt.2	-	23	4301	c.3903C>T	c.(3901-3903)ggC>ggT	p.G1301G	TNS1_uc002vgr.2_Silent_p.G1288G|TNS1_uc002vgs.2_Silent_p.G1280G|TNS1_uc010zjv.1_Silent_p.G1280G	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1301						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGAGGTGACGGCCCAGGCTGG	0.657000														40			4		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92638124	92638124	+	Silent	SNP	G	A	A	rs12594058	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:92638124G>A	uc002bqx.2	+	2	861	c.660G>A	c.(658-660)acG>acA	p.T220T	SLCO3A1_uc002bqy.2_Silent_p.T220T|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.T162T	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	220					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCCTGTTCACGATGCTGGTAT	0.398000														115			8		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90246318	90246318	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90246318C>T	uc002boj.3	+	2	542	c.441C>T	c.(439-441)tcC>tcT	p.S147S	WDR93_uc002bok.4_Silent_p.S147S|WDR93_uc010bnr.3_Silent_p.S147S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	147					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGTCACTTCCATCTGGGCCA	0.393000														82			6		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635292	32635292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:32635292C>T	uc003zrg.1	-	0	376	c.286G>A	c.(286-288)Gat>Aat	p.D96N	AX747113_uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	96					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CACCCTTCATCATTTACCAAG	0.512000														115			27		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87138735	87138735	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:87138735G>A	uc003uiz.2	-	26	3838	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I	ABCB1_uc011khc.2_Silent_p.I1051I	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1115	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTGGGACACGATGCCCAGGT	0.517000														50			7		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78196486	78196486	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78196486C>T	uc002jyb.2	+	3	573	c.267C>T	c.(265-267)ttC>ttT	p.F89F	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.F89F|SLC26A11_uc002jyd.2_Silent_p.F89F|SLC26A11_uc010dhv.2_Silent_p.F89F	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	89						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)			TGGGCTGCTTCGTGTATTTCT	0.612000														155			12		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105381	160105381	+	Missense_Mutation	SNP	G	A	A	rs147183887		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160105381G>A	uc001fvc.3	+	15	2405	c.2273G>A	c.(2272-2274)gGg>gAg	p.G758E	ATP1A2_uc001fvb.2_Missense_Mutation_p.G758E|ATP1A2_uc001fvd.3_Missense_Mutation_p.G494E	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	758					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATCGTCACGGGGGTGGAGGAG	0.562000														47			7		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914318	117914318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:117914318C>T	uc001two.2	-	16	2501	c.2446G>A	c.(2446-2448)Gag>Aag	p.E816K		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	845	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTATCCTCCTCTGTGTCGGGG	0.612000														7			3		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781871	128781871	+	Missense_Mutation	SNP	C	T	T	rs148462487		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:128781871C>T	uc001qet.3	+	1	1017	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	KCNJ5_uc009zck.3_Missense_Mutation_p.R235W|KCNJ5_uc001qew.3_Missense_Mutation_p.R235W	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	235					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGCCTCCATCCGGGCCAAGCT	0.607000														75			9		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84216904	84216904	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84216904G>A	uc002fhn.3	-	4	596	c.354C>T	c.(352-354)gcC>gcT	p.A118A	TAF1C_uc010vnz.2_5'UTR|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Intron|TAF1C_uc002fhm.3_Silent_p.A51A|TAF1C_uc010vnx.2_Silent_p.A118A|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Silent_p.A118A	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	118					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGGGCGCAAAGGCTACGTCTC	0.622000														47			8		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811794	91811794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91811794G>A	uc002bqv.3	+	9	2223	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	SV2B_uc002bqt.3_Missense_Mutation_p.M444I|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.M293I	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	444					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACTTCACGATGGAAAATCAGA	0.428000														250			82		0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392759	71392759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:71392759C>T	uc001jpq.4	+	3	480	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA.	104						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTTGGTGTTCGTGGCCTCCT	0.587000														109			7		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337520	40337520	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:40337520G>A	uc003gva.1	+	0	52	c.36G>A	c.(34-36)tgG>tgA	p.W12*		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	12					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			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)	CCTTTTGCTGGATCTACTTTG	0.507000														39			6		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24187543G>A	uc003xdy.3	+	10	1101	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADAM28_uc003xdx.3_Missense_Mutation_p.E340K|ADAM28_uc011kzz.2_Missense_Mutation_p.E107K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E27K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	340	Peptidase M12B.				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)		AATGGCACATGAAATGGGCCA	0.408000														21			4		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901637	2901637	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2901637C>T	uc010ckd.3	+	13	1257	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	RAP1GAP2_uc010cke.3_Silent_p.V374V	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	389	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	p.V389A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCGTGCAGGTCGAGACCCCAG	0.537000														59			10		0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21948002	21948002	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21948002G>A	uc010kuk.3	-	3	547	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CDCA7L_uc003sve.4_Nonsense_Mutation_p.R109*|CDCA7L_uc010kul.3_Nonsense_Mutation_p.R97*|CDCA7L_uc003svf.4_Nonsense_Mutation_p.R142*	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	143					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAGGCTACTCGAAGACCAATA	0.453000														35			4		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324224	7324224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7324224G>A	uc002ggv.3	+	2	255	c.230G>A	c.(229-231)aGa>aAa	p.R77K	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	77					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCATTACTCAGAAAGCAGACC	0.597000														97			6		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38523742	38523742	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38523742C>T	uc003cif.3	+	8	1152	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	ACVR2B_uc003cig.3_Silent_p.F167F	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	376	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCATCAACTTCCAGAGAGATG	0.557000														24			3		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684421	100684421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100684421C>T	uc003uxp.1	+	2	9777	c.9724C>T	c.(9724-9726)Ctt>Ttt	p.L3242F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3242	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCTAGCATCCTTTCAACAAC	0.502000														165			26		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127760218	127760218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:127760218G>A	uc001ljk.2	-	11	1573	c.1160C>T	c.(1159-1161)cCa>cTa	p.P387L	ADAM12_uc010qul.1_Missense_Mutation_p.P338L|ADAM12_uc001ljm.3_Missense_Mutation_p.P387L|ADAM12_uc001ljn.3_Missense_Mutation_p.P384L|ADAM12_uc001ljl.4_Missense_Mutation_p.P384L	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	387	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CATGGGAAATGGGTACCTGAG	0.552000														42			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686297	181686297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181686297G>A	uc009wxt.3	+	10	1579	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	CACNA1E_uc001gow.3_Missense_Mutation_p.E462K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E462K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	462					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						CCGGCACAAGGAAAGGCTTCT	0.512000														67			9		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181482	128181482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128181482C>T	uc003ekk.1	-	2	2268	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.G203R	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	203					protein folding		heat shock protein binding|unfolded protein binding	p.G203W(2)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGCTCCTGCCCGTTCTCCACG	0.612000														63			4		0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124657	65124657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65124657G>A	uc021qlj.1	+	0	1378	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	TIGD3_uc001odo.4_Missense_Mutation_p.D460N	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	460					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAAATTCTACGACTGTGAGGA	0.572000														32			7		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882852	126882852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:126882852C>T	uc003vlr.2	-	0	718	c.407G>A	c.(406-408)gGa>gAa	p.G136E	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G136E|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	136					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGGTGGATCTCCATTAGCACA	0.468000										HNSCC(24;0.065)				25			10		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887660	97887660	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:97887660C>T	uc011bgu.2	+	0	117	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCATCACCATCATGGGGAATC	0.413000														31			4		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135762891	135762891	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:135762891G>A	uc004fab.3	-	15	2166	c.1704_splice	c.e15+1	p.S568_splice	ARHGEF6_uc011mwd.2_Splice_Site_p.S441_splice|ARHGEF6_uc011mwe.2_Splice_Site_p.S414_splice	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	568					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACTACTTACAGAATGAGCACT	0.468000														20			8		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179095614	179095614	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179095614G>A	uc001gmj.4	-	3	872	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ABL2_uc010pnf.2_Silent_p.F195F|ABL2_uc010png.2_Silent_p.F174F|ABL2_uc010pnh.2_Silent_p.F174F|ABL2_uc009wxe.3_Silent_p.F174F|ABL2_uc001gmg.4_Silent_p.F180F|ABL2_uc001gmi.4_Silent_p.F180F|ABL2_uc010pne.2_Silent_p.F159F|ABL2_uc001gmk.3_Silent_p.F159F|ABL2_uc009wxf.2_Silent_p.F180F	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	195	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTCGCACCAGGAAGCTGCCAT	0.537000			T	ETV6	AML									69			11		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313574	25313574	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:25313574C>T	uc001isi.4	+	2	1751	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.G474G	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	474					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TAAACTGGGGCCGACTACTTC	0.383000														49			10		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005733	120005733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120005733C>T	uc002tlp.3	+	3	1128	c.971C>T	c.(970-972)cCg>cTg	p.P324L	STEAP3_uc002tlq.3_Missense_Mutation_p.P334L|STEAP3_uc002tlr.3_Missense_Mutation_p.P324L|STEAP3_uc010fle.3_Missense_Mutation_p.P324L	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	324	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TTCTGCTTGCCGCTGCGCCGC	0.647000														42			7		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490518	149490518	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149490518C>T	uc010lpk.3	+	38	5985	c.5985C>T	c.(5983-5985)tgC>tgT	p.C1995C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1998	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGCACACTGCTCACCCTACT	0.672000														19			3		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097283	220097283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220097283C>T	uc002vkg.3	+	4	610	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.R90W|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.3_5'UTR|ANKZF1_uc002vki.3_Missense_Mutation_p.R146W|ANKZF1_uc002vkj.1_Missense_Mutation_p.R134W	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	146						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)		GACACTGGATCGGGAGAGGGC	0.507000														63			10		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310196	22310196	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22310196C>T	uc001bfk.3	+	4	487	c.372C>T	c.(370-372)atC>atT	p.I124I	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	124	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCAATGACATCGCCCTCATCA	0.647000														46			10		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	978262	978262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:978262C>T	uc021qss.1	+	8	4013	c.3370C>T	c.(3370-3372)Cat>Tat	p.H1124Y	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.H1209Y|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.H423Y	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	862					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATCTGCACTTCATCCACAGGT	0.388000														211			23		0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52992013	52992013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:52992013C>T	uc002iud.2	+	5	687	c.512C>T	c.(511-513)tCa>tTa	p.S171L	TOM1L1_uc002iub.3_Missense_Mutation_p.S136L|TOM1L1_uc002iuc.3_Missense_Mutation_p.S171L|TOM1L1_uc010dca.1_Missense_Mutation_p.S171L|TOM1L1_uc010wnb.1_Missense_Mutation_p.S164L|TOM1L1_uc010wnc.1_Missense_Mutation_p.S94L|TOM1L1_uc010dbz.2_Missense_Mutation_p.S94L|TOM1L1_uc010wnd.1_Intron|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	171					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GCTCAAATCTCATCAAATCCT	0.403000														54			4		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298341	184298341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:184298341C>T	uc003foz.3	+	11	2761	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	775	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGCAAAGTCTCAGACTTTGGC	0.592000														75			9		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901193	51901193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:51901193G>A	uc002iua.2	+	0	955	c.799G>A	c.(799-801)Gac>Aac	p.D267N	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	267	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						CTTCTGCTTCGACCATGCCTT	0.557000														39			5		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672685	62672685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62672685G>A	uc021ooc.1	+	3	820	c.385G>A	c.(385-387)Gat>Aat	p.D129N	L1TD1_uc001dae.4_Missense_Mutation_p.D129N	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	129										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aataggtgatgataatgaaaa	0.318000														72			14		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30121959	30121959	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30121959G>A	uc003npo.3	-	6	1309	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	411	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						GAGCCGAGACGAAGCCCCAAG	0.672000														32			4		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000149	56000149	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56000149A>G	uc010rjc.2	-	0	513	c.513T>C	c.(511-513)taT>taC	p.Y171Y		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGCTCACTGAATACAGGAGAG	0.443000														70			10		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31952984	31952984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31952984C>T	uc003ale.3	+	6	994	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	SFI1_uc003ald.1_Missense_Mutation_p.R177C|SFI1_uc003alf.3_Missense_Mutation_p.R201C|SFI1_uc003alg.3_Missense_Mutation_p.R119C|SFI1_uc011alp.2_Missense_Mutation_p.R119C|SFI1_uc011alq.2_Missense_Mutation_p.R177C|SFI1_uc003alh.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	201					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R201H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CGTGGTTGTTCGTAGGACCAA	0.468000														57			15		0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842335	32842335	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32842335G>A	uc001bvi.3	-	8	782	c.735C>T	c.(733-735)ctC>ctT	p.L245L	BSDC1_uc001bvh.4_Silent_p.L228L|BSDC1_uc010ohg.2_Silent_p.L245L|BSDC1_uc010ohh.2_Silent_p.L172L|BSDC1_uc010ohi.2_Silent_p.L133L|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.L124L			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	228							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAATGCCCATGAGCTCCTCTG	0.512000														36			7		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167035285	167035285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167035285C>T	uc011bpc.2	-	12	1421	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	ZBBX_uc003feq.3_Missense_Mutation_p.D333N|ZBBX_uc003fep.3_Missense_Mutation_p.D362N	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	362						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCATCACTATCTTCATCGTTT	0.333000														4			3		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654909	15654909	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:15654909C>T	uc001rcv.2	+	4	1487	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PTPRO_uc001rcw.2_Silent_p.S339S|PTPRO_uc001rcu.2_Silent_p.S339S	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	339	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTCTTTCTCCTTTTTCCCTG	0.428000														8			3		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36205107	36205107	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36205107T>C	uc001bzi.3	-	18	3247	c.3167A>G	c.(3166-3168)gAt>gGt	p.D1056G	CLSPN_uc009vux.3_Missense_Mutation_p.D992G	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	1056					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTGCCTCATCCTCCAGGTA	0.398000														48			15		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052718	97052718	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:97052718G>A	uc003pos.2	+	3	668	c.252G>A	c.(250-252)aaG>aaA	p.K84K	FHL5_uc003pot.2_Silent_p.K84K	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	84	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TTGCTGCCAAGGATGAGCGCC	0.517000														35			4		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7662898	7662898	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7662898G>A	uc002giu.1	+	14	2621	c.2607G>A	c.(2605-2607)ttG>ttA	p.L869L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	869	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGTCATTTTGAAGAATGATC	0.453000														57			4		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235344	81235344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:81235344G>A	uc002bfw.1	+	26	4018	c.3758G>A	c.(3757-3759)gGg>gAg	p.G1253E	KIAA1199_uc010unn.1_Missense_Mutation_p.G1253E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1253										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						GTGATTGACGGGAACCAAGGG	0.567000														213			16		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883137	48883137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:48883137C>T	uc003xqk.2	+	11	2327	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	MCM4_uc003xql.2_Missense_Mutation_p.R501W|MCM4_uc011ldi.2_Missense_Mutation_p.R488W	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	501	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGCAAATTTCGGGCTGAGAT	0.498000														62			4		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987460	22987460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22987460G>A	uc001bgd.3	+	2	475	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	115					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAATCGGGAGACTACAAGGC	0.622000														59			18		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184585044	184585044	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:184585044C>T	uc003ivx.3	+	1	226	c.24C>T	c.(22-24)ttC>ttT	p.F8F	TRAPPC11_uc003ivw.3_Silent_p.F8F|TRAPPC11_uc010isc.3_5'UTR	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	8																	AGTGGGACTTCCCTGTGGAAT	0.403000														63			4		0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144641705	144641705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144641705C>T	uc003yyf.3	+	2	387	c.344C>T	c.(343-345)cCg>cTg	p.P115L	GSDMD_uc010mfe.3_Missense_Mutation_p.P67L|GSDMD_uc003yyi.3_Missense_Mutation_p.P67L|GSDMD_uc003yyg.3_Missense_Mutation_p.P67L|GSDMD_uc003yyh.3_Intron	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	67								p.S114C(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCCTGGAGCCGGATGCCGCG	0.607000														91			15		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574216	142574216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142574216G>A	uc003wbx.2	-	5	936	c.707C>T	c.(706-708)cCc>cTc	p.P236L	TRPV6_uc003wbw.1_Missense_Mutation_p.P22L|TRPV6_uc010lou.1_Missense_Mutation_p.P107L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	236					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGTGATTGGGCACGAGGTC	0.572000														45			12		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123005614	123005614	+	Missense_Mutation	SNP	C	T	T	rs148824947		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123005614C>T	uc003egh.2	-	19	3575	c.3575G>A	c.(3574-3576)cGa>cAa	p.R1192Q	ADCY5_uc021xdd.1_Missense_Mutation_p.R842Q|ADCY5_uc003egg.2_Missense_Mutation_p.R850Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1192	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTGAGGCTTTCGTGCCCCTAT	0.617000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			10		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915464	32915464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32915464G>A	uc003cff.3	+	1	1070	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	336					multicellular organismal development	cytoplasm	zinc ion binding	p.R336fs*6(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGCAGGGACGACAGGCAATC	0.617000														71			5		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29237342	29237342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:29237342C>T	uc010ezl.3	+	7	1310	c.959C>T	c.(958-960)cCc>cTc	p.P320L	FAM179A_uc010ymm.2_Missense_Mutation_p.P320L|FAM179A_uc002rmr.4_5'UTR	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	320							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGTCTGCTCCCACGCTGACA	0.592000														15			5		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409765	69409765	+	Silent	SNP	C	T	T	rs150501629		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69409765C>T	uc002sfg.3	+	15	1682	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S442S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGCCTTCTTCCCCCCGGAAGT	0.423000									Familial Infantile Hemangioma					73			11		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300404	62300404	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62300404A>T	uc001ntl.3	-	4	1785	c.1485T>A	c.(1483-1485)atT>atA	p.I495I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	495					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAGGTTTCTGAATAATCATTT	0.473000														109			17		0	0	1	0	0
LENEP	55891	broad.mit.edu	37	1	154966142	154966142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154966142C>T	uc021pak.1	+	0	59	c.59C>T	c.(58-60)cCt>cTt	p.P20L	LENEP_uc001fgi.3_Missense_Mutation_p.P20L	NM_018655	NP_061125	Q9Y5L5	LENEP_HUMAN	Homo sapiens lens epithelial protein (LENEP), mRNA.	20					multicellular organismal development		DNA binding			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGGGGCCCCTCGAGACACT	0.637000														73			4		0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325680	1325680	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1325680G>A	uc001afi.2	-	7	968	c.936C>T	c.(934-936)gcC>gcT	p.A312A	CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Silent_p.A90A|CCNL2_uc001afg.1_Silent_p.A90A|CCNL2_uc001afj.2_Silent_p.A90A	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	312					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		ACAGGCCCCGGGCTTGGGCCT	0.572000														96			23		0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768660	24768660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24768660C>T	uc001bjh.3	+	3	685	c.278C>T	c.(277-279)tCc>tTc	p.S93F	NIPAL3_uc010oek.2_Missense_Mutation_p.S93F|NIPAL3_uc009vrc.3_Missense_Mutation_p.S11F	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	93						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GTGTTCGCCTCCTACGCCTTC	0.637000														111			23		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785708	140785708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785708C>T	uc004fbq.3	-	1	301	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	70						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					CGGGCGTGGTCATTCACCAGT	0.443000														133			15		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128865525	128865525	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128865525C>T	uc002tps.3	+	3	469	c.291C>T	c.(289-291)tcC>tcT	p.S97S	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.3_Silent_p.S73S	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	97					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCGATTATTCCTACTATCATG	0.378000														73			5		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986627	61986627	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:61986627G>A	uc001vid.4	-	1	1969	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PCDH20_uc010thj.2_Silent_p.F535F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	508	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGGTTGAAGGAAAATTGGAG	0.428000														59			12		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24426228	24426228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24426228G>A	uc001bin.4	-	5	761	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	MYOM3_uc001bio.3_Missense_Mutation_p.R200C|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	200	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTTCCGGCACGAAAGAGGCGG	0.572000														89			9		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346421	70346421	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:70346421G>A	uc003hek.4	-	5	1565	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	UGT2B4_uc011cap.2_Silent_p.F370F|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	506					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTGATGATGAATATCACAG	0.488000														14			5		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343954	72343954	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72343954T>C	uc002llw.2	+	0	1032	c.979T>C	c.(979-981)Ttt>Ctt	p.F327L	ZNF407_uc010xfc.2_Missense_Mutation_p.F327L|ZNF407_uc010dqu.2_Missense_Mutation_p.F327L|ZNF407_uc002llu.2_Missense_Mutation_p.F326L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	327					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)		GGGAAGCACGTTTAAAGATTT	0.353000														90			5		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50878419	50878419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50878419C>T	uc003blb.2	+	21	2737	c.2315C>T	c.(2314-2316)cCg>cTg	p.P772L	PPP6R2_uc003blc.3_Missense_Mutation_p.P772L|PPP6R2_uc003bky.2_Missense_Mutation_p.P746L|PPP6R2_uc003bla.2_Missense_Mutation_p.P746L|PPP6R2_uc003bkz.2_Missense_Mutation_p.P745L|PPP6R2_uc003bld.2_Missense_Mutation_p.P305L	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	772						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGCAGCTCTCCGGTGGACACA	0.642000														47			5		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7630451	7630451	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7630451C>T	uc002giu.1	+	2	254	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DNAH2_uc002git.3_Silent_p.F80F|DNAH2_uc010vuk.2_Silent_p.F80F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	80	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCCCTCTTCCTTTCCCGAG	0.542000														54			5		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001873	98001873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:98001873C>T	uc003dsj.1	+	0	142	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTGTGGAACCTTGGTCTGAT	0.433000														94			11		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756661	52756661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52756661C>T	uc001sag.3	-	5	1174	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	352	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCAATCTCGGCCGTCAGC	0.592000														70			8		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423398	33423398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:33423398C>T	uc003oeq.3	+	1	789	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZBTB9_uc021ywp.1_Missense_Mutation_p.S174L	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATTCGCTCTTCGCCTTTCCAG	0.542000														128			22		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	78709859	78709859	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:78709859G>A	uc001xum.1	+	1		c.1216G>A						Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGCCCTACATGGATGTGGTCA	0.617000														19			4		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575771	12575771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12575771G>A	uc002mtv.4	-	3	1126	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF709_uc002mtw.4_Missense_Mutation_p.S290F|ZNF709_uc002mtx.4_Missense_Mutation_p.S322F	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTTCTAAAGGAACTAGGAAA	0.373000														31			4		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252981	37252981	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:37252981G>A	uc022abv.1	-	11	1623	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	ELMO1_uc011kbc.2_Silent_p.L209L|ELMO1_uc003tfk.2_Silent_p.L305L|ELMO1_uc010kxg.2_Silent_p.L305L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	305					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTGTCTTCCAGGAGGTTAAAG	0.502000														21			4		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65006823	65006823	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:65006823G>A	uc002eoi.3	-	8	1808	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.V458V|CDH11_uc010vin.2_Silent_p.V332V	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	458	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGCTGCAAAGACAGTGATGT	0.378000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				32			4		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569339	127569339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:127569339G>A	uc001ljf.1	-	0	546	c.55C>T	c.(55-57)Cct>Tct	p.P19S	DHX32_uc001ljg.1_Missense_Mutation_p.P19S	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	19						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGGATTCAGGAAAATAGCGT	0.468000														62			6		0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38023281	38023281	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38023281C>T	uc001cbj.3	+	1	235	c.225C>T	c.(223-225)ccC>ccT	p.P75P	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	53					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAAGCTCCCCTCAACTCCCT	0.562000														164			13		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28128716	28128716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28128716G>A	uc002dpa.1	-	14	2428	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y	XPO6_uc002dpb.1_Missense_Mutation_p.H629Y|XPO6_uc010vcp.1_Missense_Mutation_p.H643Y	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	643					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTCTGCCGGTGAACTTCACTG	0.488000														77			7		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194880	45194880	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45194880G>A	uc002xsf.2	-	10	1522	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	SLC13A3_uc010ghn.2_Silent_p.V463V|SLC13A3_uc010zxx.2_Silent_p.V396V|SLC13A3_uc010zxw.2_Silent_p.V444V|SLC13A3_uc002xsg.2_Silent_p.V447V|SLC13A3_uc010gho.2_Silent_p.V412V|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.V81V|SLC13A3_uc010zxv.2_Silent_p.V79V	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	494						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.V494F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCTCTGCCAGGACCGGCAGGA	0.612000														134			15		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129999051	129999051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129999051C>T	uc010sby.2	+	9	1562	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	APLP2_uc001qfp.3_Missense_Mutation_p.R469W|APLP2_uc001qfq.3_Missense_Mutation_p.R413W|APLP2_uc010sbz.2_Missense_Mutation_p.R257W|APLP2_uc001qfr.3_Missense_Mutation_p.R235W|APLP2_uc001qfs.3_Missense_Mutation_p.R240W|APLP2_uc021qsg.1_Missense_Mutation_p.R479W|APLP2_uc001qfv.3_Missense_Mutation_p.R360W	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	469					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGACCGCCGTCGGATGGCTCT	0.592000														74			8		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	347136	347136	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:347136G>A	uc002kkm.3	-	4	701	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	162					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGGTGATGAGGAAAGAGTTAT	0.488000														73			15		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493710	38493710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38493710G>A	uc010ive.1	-	13	2395	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F	LIFR_uc003jli.2_Missense_Mutation_p.S688F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	688	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.E687*(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CATCTTACCAGATTCTATTAC	0.408000			T	PLAG1	salivary adenoma									51			9		0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52242083	52242083	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52242083G>A	uc002abo.3	-	9	1736	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	LEO1_uc010bfd.3_Nonsense_Mutation_p.R514*	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	574					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCATCGTATCGATCAGGTTCC	0.527000														88			18		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852546	40852546	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40852546A>G	uc003jmg.3	+	2	1187	c.1112A>G	c.(1111-1113)cAa>cGa	p.Q371R		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	371					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CGAGACATACAAACCATTAAT	0.463000														39			5		0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193181590	193181590	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:193181590C>T	uc001gtb.3	+	12	1380	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	379			D -> N (in HPT-JT).		cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATGCAAAAGACCTTCTACAGG	0.328000														123			21		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670089	44670089	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44670089T>C	uc010zxl.1	+	7	1121	c.1045T>C	c.(1045-1047)Ttc>Ctc	p.F349L	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.F326L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	349					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCCTCTCGCTTCCTCAACGC	0.562000														60			8		0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442594	22442594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22442594C>T	uc003xby.3	+	4	1169	c.380C>T	c.(379-381)tCc>tTc	p.S127F	PDLIM2_uc003xbx.2_Missense_Mutation_p.S377F|PDLIM2_uc003xca.3_Missense_Mutation_p.S127F|PDLIM2_uc003xcc.2_Missense_Mutation_p.S127F	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	127	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCCCAACCTCCCTCAGCCCG	0.622000														95			6		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488636	128488636	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128488636C>T	uc003vnz.4	+	26	4811	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	FLNC_uc003voa.4_Silent_p.L1534L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1534					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						TCAAGGTCCTCCCAGCTCATG	0.632000														276			13		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686004	125686004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125686004C>T	uc022cds.1	-	0	588	c.588G>A	c.(586-588)tgG>tgA	p.W196*	DCAF12L1_uc004eul.3_Nonsense_Mutation_p.W196*	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	196										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGCGAAGATCCAGTCCTTGT	0.667000														14			9		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000406	73000406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:73000406C>T	uc002lly.3	+	1	3472	c.2909C>T	c.(2908-2910)tCg>tTg	p.S970L	TSHZ1_uc021uln.1_Missense_Mutation_p.S970L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	1015						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S970L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGAATGTTTCGAAAGTCCTC	0.502000														53			8		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451141	155451141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155451141G>A	uc003qqb.3	+	5	2057	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TIAM2_uc003qqe.3_Missense_Mutation_p.E262K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	262					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGCTGAGCGAGGCTGAGGG	0.617000														63			5		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92949065	92949065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92949065C>T	uc001yak.3	+	12	1320	c.1297C>T	c.(1297-1299)Ctc>Ttc	p.L433F	SLC24A4_uc001yai.3_Missense_Mutation_p.L369F|SLC24A4_uc010twm.2_Missense_Mutation_p.L414F|SLC24A4_uc010auj.3_Missense_Mutation_p.L305F|SLC24A4_uc010twn.2_Missense_Mutation_p.L189F|SLC24A4_uc001yan.3_Missense_Mutation_p.L127F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	433						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.W432L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CACCTGGCCCCTCATCTTCCT	0.582000														107			11		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196023	201196023	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201196023G>A	uc001gwc.3	+	22	10930	c.10800G>A	c.(10798-10800)gtG>gtA	p.V3600V	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTTCACAGTGAAGGCTCCGT	0.632000														125			16		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944371	40944371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:40944371C>T	uc002xkg.3	-	11	2315	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	PTPRT_uc010ggj.3_Missense_Mutation_p.A711T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	711	Fibronectin type-III 4.				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			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)				ACTCCATTGGCTTTGCTGAGT	0.468000														41			7		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232290	21232290	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21232290G>A	uc002red.3	-	25	7578	c.7450C>T	c.(7450-7452)Cta>Tta	p.L2484L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2484					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTCCTGTAGGCTTTCCAGA	0.423000														315			125		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952706	16952706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrY:16952706C>T	uc011nas.1	+	6	2254	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	NLGN4Y_uc004fte.2_Missense_Mutation_p.S504F|NLGN4Y_uc004ftg.2_Missense_Mutation_p.S672F|NLGN4Y_uc004ftf.2_Missense_Mutation_p.S365F|NLGN4Y_uc004fth.2_Missense_Mutation_p.S672F	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	672					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.A692A(1)		large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CGAGATTATTCCACCGAATTA	0.512000														60			14		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9615392	9615392	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:9615392C>T	uc010cod.3	+	13	2278	c.2278C>T	c.(2278-2280)Ctg>Ttg	p.L760L	USP43_uc002gma.4_Silent_p.L449L|USP43_uc010vva.2_Silent_p.L755L|USP43_uc010coe.3_Silent_p.L557L|USP43_uc002gmc.4_Silent_p.L272L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	760					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						CTGCCCCTCCCTGCCCCAGGT	0.557000														29			3		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241976243	241976243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241976243G>A	uc002wah.1	+	4	842	c.842G>A	c.(841-843)gGc>gAc	p.G281D		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	281	EGF-like 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCCTCAACGGCGGCAAGTGC	0.692000														58			11		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863004	23863004	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23863004C>T	uc001wjv.3	-	21	2870	c.2799G>A	c.(2797-2799)gaG>gaA	p.E933E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	933					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCGTTCATCTCCTCCTCAT	0.532000														67			8		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858169	18858169	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:18858169C>T	uc021qvx.1	-	6	986	c.795G>A	c.(793-795)caG>caA	p.Q265Q	PLCZ1_uc001rdv.4_Silent_p.Q161Q|PLCZ1_uc001rdw.4_Silent_p.Q6Q|PLCZ1_uc001rdu.1_Silent_p.Q6Q|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	265	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Q265H(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAAAAGTAGCCTGCAAATTGT	0.398000														44			5		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804145	27804145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27804145C>T	uc002rkz.4	+	0	4757	c.4706C>T	c.(4705-4707)cCc>cTc	p.P1569L	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1569	Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATCGCAGTCCCTCTGAGAGA	0.537000														71			33		0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257370	114257370	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:114257370C>T	uc002tjw.4	+	0	710	c.537C>T	c.(535-537)acC>acT	p.T179T		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	179					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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCAAGGGCACCTACTGGAGCC	0.647000														403			32		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22969327	22969327	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:22969327C>T	uc001yus.3	+	21	2657	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	CYFIP1_uc001yut.3_Silent_p.F851F|CYFIP1_uc010aya.1_Silent_p.F879F|CYFIP1_uc001yuu.3_Silent_p.F420F|CYFIP1_uc001yuv.3_Silent_p.F45F	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	851					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACTATGACTTCCTGCCCAACT	0.642000														79			17		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991585	144991585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144991585G>A	uc003zaf.1	-	31	12985	c.12815C>T	c.(12814-12816)tCc>tTc	p.S4272F	PLEC_uc003zab.1_Missense_Mutation_p.S4135F|PLEC_uc003zac.1_Missense_Mutation_p.S4139F|PLEC_uc003zad.2_Missense_Mutation_p.S4135F|PLEC_uc003zae.1_Missense_Mutation_p.S4103F|PLEC_uc003zag.1_Missense_Mutation_p.S4113F|PLEC_uc003zah.2_Missense_Mutation_p.S4121F|PLEC_uc003zaj.2_Missense_Mutation_p.S4162F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4272	Binding to intermediate filaments (By similarity).|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						CTTGCGCACGGAGGACTTGGA	0.617000														45			5		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899725	233899725	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233899725C>T	uc010zmn.2	+	1	1101	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	367							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TTCTCATGTTCACCCTGAAGC	0.582000														184			12		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204125919	204125919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204125919G>A	uc001haq.2	-	6	748	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	235					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGCGATTGGGAATTCCTAAA	0.527000														72			6		0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165649900	165649900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165649900G>A	uc001gdh.1	-	4	718	c.613C>T	c.(613-615)Cct>Tct	p.P205S	ALDH9A1_uc010pky.1_Missense_Mutation_p.P111S|ALDH9A1_uc010pkz.1_Missense_Mutation_p.P195S|ALDH9A1_uc010pla.1_Missense_Mutation_p.P111S	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	181					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	AAGGGAGAAGGTTTAAAGACC	0.468000														24			5		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793075	53793075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53793075C>T	uc002qbk.3	-	0	1801	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	185					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGCTTCTCCTCTTGCAGACGC	0.428000														49			7		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95861734	95861734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:95861734G>A	uc001vmd.4	-	5	858	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	ABCC4_uc010afk.3_Missense_Mutation_p.L247F|ABCC4_uc001vme.2_Missense_Mutation_p.L247F|ABCC4_uc010tih.1_Missense_Mutation_p.L172F|ABCC4_uc001vmf.2_Missense_Mutation_p.L204F|ABCC4_uc010afl.1_Missense_Mutation_p.L204F|ABCC4_uc010afm.1_Missense_Mutation_p.L260F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	247	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AAGGGCAGGAGAATGATTAGA	0.468000														35			5		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562654	145562654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145562654C>T	uc001eob.1	+	9	2450	c.2342C>T	c.(2341-2343)gCt>gTt	p.A781V	ANKRD35_uc010oyx.1_Missense_Mutation_p.A624V	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	781										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGTGGCCGCTCTGGAGCAA	0.627000														31			4		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877785	150877785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:150877785G>A	uc003eyp.3	+	6	1133	c.1004G>A	c.(1003-1005)gGc>gAc	p.G335D	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.G335D|MED12L_uc003eyo.3_Missense_Mutation_p.G335D	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGC	0.582000														110			9		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22990076	22990076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:22990076C>T	uc001yus.3	+	23	2800	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F	CYFIP1_uc001yut.3_Missense_Mutation_p.S899F|CYFIP1_uc010aya.1_Missense_Mutation_p.S927F|CYFIP1_uc001yuu.3_Missense_Mutation_p.S468F|CYFIP1_uc001yuv.3_Missense_Mutation_p.S93F	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	899					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTGGCCTACTCCAGCATTTAC	0.547000														64			5		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939527	14939527	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:14939527C>T	uc003bzc.3	+	5	3101	c.2991C>T	c.(2989-2991)ttC>ttT	p.F997F	FGD5_uc011avk.2_Silent_p.F997F|FGD5_uc003bzd.3_Silent_p.F75F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	997	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.F997F(1)|p.F756F(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCTGCAGTTCGACAGGTACC	0.602000														98			9		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543313	182543313	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:182543313G>T	uc021vto.1	-	0	275	c.275C>A	c.(274-276)aCt>aAt	p.T92N	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.T92N|NEUROD1_uc021vtn.1_Missense_Mutation_p.T92N	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	92					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.T92T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCGAGCCTTAGTCATCTTCTT	0.562000														367			62		9.65139e-37	9.79668e-37	1	1	0
LPO	4025	broad.mit.edu	37	17	56345271	56345271	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56345271G>A	uc002ivt.3	+	12	2371	c.2055G>A	c.(2053-2055)tgG>tgA	p.W685*	LPO_uc010wns.2_Nonsense_Mutation_p.W626*|LPO_uc010dcp.3_Nonsense_Mutation_p.W602*|LPO_uc010dcq.3_Nonsense_Mutation_p.W356*|LPO_uc010dcr.3_Nonsense_Mutation_p.W248*	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	685					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ACCCATTCTGGGCCAACAGCT	0.562000														76			15		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3430027	3430027	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:3430027C>T	uc010qxs.1	+	10		c.1126C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		GACTGTGCTCCCTTTGGTTAT	0.557000														29			4		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810649	140810649	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:140810649C>T	uc021xsg.1	-	1	2693	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	643	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q646Q(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.577000														47			5		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994575	140994575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140994575C>T	uc004fbt.3	+	3	1709	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S121F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	462							protein binding	p.S461N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGAGA	0.483000										HNSCC(15;0.026)				60			8		0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798169	21798170	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21798169_21798170CC>TT	uc001ber.3	+	4	904_905	c.554_555CC>TT	c.(553-555)gcc>gTT	p.A185V	NBPF3_uc001bes.3_Missense_Mutation_p.A129V|NBPF3_uc009vqb.3_Missense_Mutation_p.A185V|NBPF3_uc010odm.2_Missense_Mutation_p.A115V	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	185						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CATCTCCAGGCCCTCCTCACTC	0.574000														127			6		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366204	109366204	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109366204C>T	uc001dwa.3	-	11	2312	c.2043G>A	c.(2041-2043)agG>agA	p.R681R	AKNAD1_uc010ovb.2_Silent_p.R388R|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	681										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTGGTTCTTTCCTGCAGGCTC	0.463000														47			9		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052707	44052707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:44052707C>T	uc001jaw.4	-	1	1474	c.821G>A	c.(820-822)aGg>aAg	p.R274K	ZNF239_uc001jax.4_Missense_Mutation_p.R274K|ZNF239_uc009xmj.3_Missense_Mutation_p.R274K|ZNF239_uc009xmk.3_Missense_Mutation_p.R274K|ZNF239_uc021pph.1_Missense_Mutation_p.R274K	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTTGAGCTCCTGGTGAAGCC	0.502000														54			6		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152644759	152644759	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152644759G>A	uc021zhb.1	-	79	15994	c.15771C>T	c.(15769-15771)ttC>ttT	p.F5257F	SYNE1_uc003qot.4_Silent_p.F5186F|SYNE1_uc003qou.4_Silent_p.F5257F|SYNE1_uc010kiz.3_Silent_p.F1012F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5257					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCAGAACGAACGTGTCGT	0.542000										HNSCC(10;0.0054)				65			4		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415333	42415333	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42415333G>A	uc003bbt.3	+	1	175	c.81G>A	c.(79-81)ccG>ccA	p.P27P	WBP2NL_uc011apk.2_Intron|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_5'Flank	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	27					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGCGGTCTCCGAATGTGGAGC	0.398000														99			8		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337667	12337667	+	Missense_Mutation	SNP	C	T	T	rs12407578	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12337667C>T	uc001atv.3	+	18	4163	c.4022C>T	c.(4021-4023)tCg>tTg	p.S1341L	VPS13D_uc001atw.3_Missense_Mutation_p.S1341L|VPS13D_uc001atx.3_Missense_Mutation_p.S529L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1341			S -> L (in dbSNP:rs12407578).		protein localization			p.V1340I(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGATGGTATCGCTCTTTGAA	0.438000														26			4		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69957191	69957191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:69957191G>A	uc001jnm.4	+	16	3426	c.3241G>A	c.(3241-3243)Gat>Aat	p.D1081N	MYPN_uc001jnn.4_Missense_Mutation_p.D806N|MYPN_uc001jno.4_Missense_Mutation_p.D1081N|MYPN_uc009xpt.3_Missense_Mutation_p.D1081N|MYPN_uc010qit.2_Missense_Mutation_p.D787N|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1081	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding	p.G1080W(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCTCCTGGGGATATGGTAGC	0.493000														53			7		0	0	1	0	0
C1orf95	375057	broad.mit.edu	37	1	226784510	226784510	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226784510C>T	uc021pjx.1	+	1	315	c.210C>T	c.(208-210)ttC>ttT	p.F70F	C1orf95_uc021pjw.1_Silent_p.F70F	NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	Homo sapiens chromosome 1 open reading frame 95 (C1orf95), mRNA.	70						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CAGGGACATTCGTCTCGGCCT	0.632000														105			7		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13651119	13651119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:13651119G>A	uc004cvj.3	+	11	1857	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	EGFL6_uc004cvi.3_Missense_Mutation_p.E523K	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	523	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.E523*(2)|p.E524*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TTTTGAAGCAGAACGTGGCAA	0.373000														37			14		0	0	1	0	0
RNF122	79845	broad.mit.edu	37	8	33416214	33416214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:33416214G>A	uc003xjo.1	-	1	503	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	34						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GATGTTGAGCGGAAGGTCCTG	0.498000														49			6		0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713960	42713960	+	Missense_Mutation	SNP	G	A	A	rs150206484		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42713960G>A	uc002osu.1	-	3	549	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.R156W|DEDD2_uc010eid.3_Non-coding_Transcript	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	161					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GGCCGGCCCCGACTCCGCCGC	0.667000														42			4		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677740	77677740	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:77677740C>T	uc011cbx.2	+	7	5801	c.4848C>T	c.(4846-4848)tcC>tcT	p.S1616S	SHROOM3_uc003hkg.3_Silent_p.S1394S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1616					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)			CACCACCCTCCTTCATGAGCG	0.567000														40			10		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490424	30490424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30490424G>A	uc002dyi.4	+	4	516	c.340G>A	c.(340-342)Ggg>Agg	p.G114R	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Intron|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	114					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGTGACCCTGGGCTGTCTCG	0.517000														60			4		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500716	102500716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102500716C>T	uc001yks.2	+	55	10845	c.10681C>T	c.(10681-10683)Cgc>Tgc	p.R3561C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3561	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAGCGTCTTCGCTGGCAGGC	0.517000														61			7		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233322730G>A	uc002vst.4	+	7	956	c.879G>A	c.(877-879)acG>acA	p.T293T	ALPI_uc002vsu.4_Silent_p.T204T	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000														36			8		0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16342141	16342141	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16342141G>A	uc001axr.2	-	2	1289	c.726C>T	c.(724-726)atC>atT	p.I242I	HSPB7_uc001axo.2_Silent_p.I149I|HSPB7_uc001axp.2_Silent_p.I232I|HSPB7_uc001axq.2_Silent_p.I241I|HSPB7_uc001axs.2_Silent_p.I224I	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	149					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGTGCCCGGATAGTGAGGC	0.637000														72			5		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269273	20269273	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:20269273G>A	uc002wru.3	+	22	2931	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	939										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCTTCTGTGAGAAGAATGTGG	0.403000														87			14		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288214	202288214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202288214C>T	uc001gxu.3	+	17	2783	c.2783C>T	c.(2782-2784)cCc>cTc	p.P928L	LGR6_uc001gxv.3_Missense_Mutation_p.P876L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.P789L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	928			P -> H (in a colorectal cancer sample; somatic mutation).			integral to membrane|plasma membrane	protein-hormone receptor activity	p.P928H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TTTGGGAACCCCCAACCCTCC	0.637000														71			12		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768968	88768968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88768968C>T	uc001kee.2	+	11	2163	c.959C>T	c.(958-960)tCc>tTc	p.S320F	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	320					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAAGCAAGTCCCAGCTGACC	0.577000														148			17		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916031	42916031	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42916031G>A	uc003cmh.3	-	0	1603	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	426					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGTAGTGGTGGATCTTCTTGC	0.542000														103			7		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276039	152276039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152276039C>T	uc001ezu.1	-	2	11359	c.11323G>A	c.(11323-11325)Gag>Aag	p.E3775K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3775	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3774H(2)|p.E3775*(2)		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)			ACCGATTGCTCGTGGTAGGAT	0.597000									Ichthyosis					393			22		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46385867	46385867	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:46385867G>C	uc002ldd.3	+	12	2099	c.1740G>C	c.(1738-1740)tgG>tgC	p.W580C	CTIF_uc002ldc.3_Missense_Mutation_p.W578C|CTIF_uc002lde.4_Missense_Mutation_p.W207C	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	578					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.P580R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTAACAGCTGGAACCCTCTGA	0.642000														59			8		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680456	159680456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:159680456G>A	uc003lyb.1	-	6	1489	c.1237C>T	c.(1237-1239)Ctc>Ttc	p.L413F	CCNJL_uc011dee.1_Missense_Mutation_p.L365F|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	413						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGTGGCGAGGCAGTGCCTG	0.602000														49			9		0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993539	76993539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76993539G>A	uc002jwj.3	-	1	661	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	CANT1_uc002jwn.3_Missense_Mutation_p.L56F|CANT1_uc002jwk.3_Missense_Mutation_p.L56F|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	56					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGCAGCCAGAGGATGGCAGCA	0.692000			T	ETV4	prostate									27			7		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206239489	206239489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206239489C>T	uc001hdt.1	-	5	1048	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	137						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCTGTGATTTCCTTTATGTTC	0.438000														32			11		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43403497	43403497	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43403497G>T	uc003ouy.1	+	4	1832	c.1617G>T	c.(1615-1617)acG>acT	p.T539T	ABCC10_uc003ouz.1_Silent_p.T496T|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	539	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTGTTCACGGCCCTGGCAC	0.562000														27			4		0.150653	0.151351	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459508	107459508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107459508G>A	uc002tdq.3	-	1	1045	c.926C>T	c.(925-927)tCc>tTc	p.S309F	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S309F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S309F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	309					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCGCCCAAGGAAGAGTTGAG	0.682000														21			3		0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10421176	10421176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10421176G>A	uc002mny.1	-	4	557	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S	ZGLP1_uc002mnw.4_5'Flank|FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	180					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TGGGGCTTGGGGACATGGCCA	0.612000														45			5		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499395	75499395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75499395C>T	uc002azp.4	+	1	1326	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	C15orf39_uc002azq.4_Missense_Mutation_p.P336S|C15orf39_uc021sqm.1_Missense_Mutation_p.P95S|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	336										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTACATTCCCCCACTGGG	0.687000														43			5		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511891	4511891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4511891G>A	uc002mar.1	-	2	2039	c.2039C>T	c.(2038-2040)aCc>aTc	p.T680I	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	680	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTTGGTGCCGGTCAGCACGGT	0.572000														205			12		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415827	5415827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:5415827G>A	uc002kmt.1	-	12	2143	c.2057C>T	c.(2056-2058)tCa>tTa	p.S686L	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	686	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTTCCTCTGAACTGTCACT	0.577000														45			13		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200944007	200944007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200944007G>A	uc001gvs.2	-	33	4966	c.4649C>T	c.(4648-4650)gCc>gTc	p.A1550V	KIF21B_uc009wzl.2_Missense_Mutation_p.A1550V|KIF21B_uc001gvr.2_Missense_Mutation_p.A1537V|KIF21B_uc010ppn.2_Missense_Mutation_p.A1537V	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1550					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						GAAGGCCAGGGCGCACACCCA	0.642000														145			25		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628566	20628566	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:20628566C>T	uc001mqd.3	+	3	966	c.693C>T	c.(691-693)atC>atT	p.I231I	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	231					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTTTCCTCATCCCTTACCTGA	0.582000														81			5		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965554	123965554	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:123965554C>T	uc022bag.1	+	0	1804	c.1804C>T	c.(1804-1806)Caa>Taa	p.Q602*	ZHX2_uc003ypk.1_Nonsense_Mutation_p.Q602*	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	602						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G601A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAAAAAGGCCAAGATGTGGG	0.562000														47			5		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384451	2384451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2384451C>T	uc002wfy.1	+	8	1379	c.1318C>T	c.(1318-1320)Ctc>Ttc	p.L440F	TGM6_uc010gal.1_Missense_Mutation_p.L440F	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	440					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CATCACTGACCTCTACAAGTA	0.592000														79			6		0	0	1	0	0
GPR157	80045	broad.mit.edu	37	1	9165602	9165602	+	Silent	SNP	G	A	A	rs147122688	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9165602G>A	uc001apq.1	-	2	878	c.735C>T	c.(733-735)ttC>ttT	p.F245F	GPR157_uc010oad.1_Intron	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA.	245						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GGGTCAGCACGAACCGCACGG	0.667000														23			6		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212472	131212472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:131212472G>A	uc004ewn.3	-	11	1751	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	FRMD7_uc022cdy.1_Missense_Mutation_p.P405S|FRMD7_uc011muy.2_Missense_Mutation_p.P510S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	525					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.P525T(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATTGCAGTGGGCTCTACATAG	0.498000														15			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750111	140750111	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140750111C>T	uc003ljw.2	+	0	150	c.150C>T	c.(148-150)ctC>ctT	p.L50L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.L50L	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	48	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)			TAGGGAACCTCGCCAAGGACC	0.537000														96			7		0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79910844	79910844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79910844C>T	uc010wvg.2	-	10	1756	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	495						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGCCTAGCTTCCGTTGCTCAG	0.672000														137			9		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204426916	204426916	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204426916G>A	uc001haw.3	-	9	2132	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	PIK3C2B_uc010pqv.2_Silent_p.I551I|PIK3C2B_uc001hax.1_Silent_p.I551I|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	551					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGCACTGGTGATCTCAGGGG	0.622000														28			4		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176851	43176851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:43176851G>A	uc002yzn.1	-	1	356	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.S103F(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTTCCAGGGAGCCCGTCTC	0.587000														44			4		0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195506	18195506	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18195506C>T	uc001mnv.1	+	0	1123	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	235						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTTCGGCATTCTGGGGGCCCT	0.522000														27			4		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191833	5191833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:5191833C>T	uc003jdl.3	+	7	1381	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R415C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R415C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	415	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R415H(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAGTAAATATCGCAGCTGCAC	0.418000														28			10		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729826	106729826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:106729826G>A	uc001tln.3	+	7	1151	c.977G>A	c.(976-978)gGa>gAa	p.G326E		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	326										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ATGACAGATGGAGCACGTCTT	0.353000														13			3		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58564203	58564203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:58564203C>T	uc002ybe.3	+	8	1579	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	CDH26_uc002ybf.1_Missense_Mutation_p.P3L|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	423	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P423Q(3)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCCATGGATCCAGACAGCCAG	0.532000														263			28		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172417	187172417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187172417C>T	uc003iyy.3	+	7	874	c.803C>T	c.(802-804)tCc>tTc	p.S268F	KLKB1_uc011clc.2_Missense_Mutation_p.S66F|KLKB1_uc011cld.2_Missense_Mutation_p.S230F	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	268	Apple 3.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACACCAAGTTCCTCTACTCCT	0.299000														91			8		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154875986	154875986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:154875986G>A	uc003wlu.1	+	1	927	c.863G>A	c.(862-864)gGc>gAc	p.G288D		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	288						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)		CTCATGGTGGGCATCCTCATT	0.632000														68			6		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156906636	156906636	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156906636G>A	uc001fqo.3	-	38	5522	c.4482C>T	c.(4480-4482)agC>agT	p.S1494S	ARHGEF11_uc010phu.2_Silent_p.S910S|ARHGEF11_uc001fqn.3_Silent_p.S1534S|MIR765_uc021pbj.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1494					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGTTCATGGCTGTTCCTGG	0.592000														106			9		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71002983	71002983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:71002983C>T	uc001swb.4	-	1	221	c.191G>A	c.(190-192)gGg>gAg	p.G64E	PTPRB_uc010sto.2_Missense_Mutation_p.G64E|PTPRB_uc010stp.2_Missense_Mutation_p.G64E|PTPRB_uc001swc.4_Missense_Mutation_p.G282E|PTPRB_uc001swa.4_Missense_Mutation_p.G282E|PTPRB_uc001swd.4_Missense_Mutation_p.G281E|PTPRB_uc009zrr.2_Missense_Mutation_p.G161E|PTPRB_uc001swe.3_Missense_Mutation_p.G282E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	64	Fibronectin type-III 1.				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)			CAACGCGGCCCCCAGGGTGTC	0.488000														39			9		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209768397	209768397	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209768397C>T	uc001hhd.3	+	1	171	c.69C>T	c.(67-69)ttC>ttT	p.F23F	CAMK1G_uc001hhf.4_Silent_p.F23F|CAMK1G_uc001hhe.3_Silent_p.F23F	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	23	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.T22A(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGAAAACCTTCATTTTTATGG	0.522000														61			5		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199418	86199418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:86199418G>A	uc001taf.1	-	1	709	c.370C>T	c.(370-372)Cct>Tct	p.P124S		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	124					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCCACAAAGGAACTGGAAGA	0.438000														126			8		0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984427	77984427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77984427G>A	uc002jxj.3	-	2	427	c.311C>T	c.(310-312)cCc>cTc	p.P104L		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	104						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CTTGCGAACGGGGGAGCTCTC	0.701000														58			7		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012952	32012952	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32012952G>A	uc003nzl.2	-	31	10954	c.10752C>T	c.(10750-10752)ttC>ttT	p.F3584F	TNXB_uc003nzg.1_Silent_p.F15F|TNXB_uc003nzh.1_Silent_p.F53F	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3631					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGACCACGAAGGAATCAA	0.647000														379			18		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644011	37644011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37644011G>A	uc002ofo.1	-	4	1021	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	ZNF585A_uc002ofm.1_Missense_Mutation_p.H209Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.H209Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGCCTGTATGGATTTTCTGA	0.428000														129			21		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394782	154394782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154394782G>A	uc010jih.1	+	0	1523	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	455					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAGACTTTGGAAGACCAGGA	0.443000														57			9		0	0	1	0	0
NUDT8	254552	broad.mit.edu	37	11	67395635	67395636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67395635_67395636GG>AA	uc001omo.2	-	3	518_519	c.492_493CC>TT	c.(490-495)ttccgc>ttTTgc	p.R165C	NUDT8_uc001omn.3_3'UTR	NM_001243750	NP_001230679	Q8WV74	NUDT8_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 8 (NUDT8), transcript variant 1, mRNA.	165	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						AGTGTGTAGCGGAAGTGGCCAC	0.614000														68			11		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91943605	91943605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:91943605C>T	uc004aqj.1	+	4	685	c.605C>T	c.(604-606)tCc>tTc	p.S202F	SECISBP2_uc010mqn.1_Missense_Mutation_p.S202F|SECISBP2_uc004aqi.1_Missense_Mutation_p.S129F|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc004aqk.1_Missense_Mutation_p.S129F|SECISBP2_uc011ltk.1_Missense_Mutation_p.S201F|SECISBP2_uc011ltl.1_Missense_Mutation_p.S134F	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	202					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GACAGGAAATCCAGAATCATT	0.353000														29			7		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62219479	62219479	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:62219479G>A	uc002agz.3	-	51	6418	c.6327C>T	c.(6325-6327)atC>atT	p.I2109I	VPS13C_uc002aha.3_Silent_p.I2066I|VPS13C_uc002ahb.2_Silent_p.I2109I|VPS13C_uc002ahc.2_Silent_p.I2066I	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2109					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGGATCTGTGATCATGGCCT	0.423000														103			42		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066561	106066561	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106066561G>T	uc001yrw.1	-	4	1183	c.1171C>A	c.(1171-1173)Cgc>Agc	p.R391S	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.R338S|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		TTGGTCTTGCGGGGCTGCGTC	0.627000														49			4		1	1	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73726336	73726336	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73726336G>A	uc002jpg.3	+	7	940	c.753G>A	c.(751-753)tgG>tgA	p.W251*	ITGB4_uc002jph.3_Nonsense_Mutation_p.W251*|ITGB4_uc010dgo.3_Nonsense_Mutation_p.W251*|ITGB4_uc002jpi.4_Nonsense_Mutation_p.W251*|ITGB4_uc010dgp.1_Nonsense_Mutation_p.W251*|ITGB4_uc002jpj.3_Nonsense_Mutation_p.W251*|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	251	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACATTGGCTGGCGCCCGGACA	0.662000														43			5		0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112843768	112843768	+	Silent	SNP	G	A	A	rs150735821	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:112843768G>A	uc001ttu.3	-	5	832	c.603C>T	c.(601-603)atC>atT	p.I201I	RPL6_uc001ttv.3_Silent_p.I201I	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	201				LNRVPLRRTHQKFVIATSTKIDISN -> SIEFLYEEHTRN LSLPLQPKSISAI (in Ref. 5; AAB30819).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TGCTGATATCGATTTTGGTTG	0.423000														42			4		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117910832	117910832	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117910832C>T	uc001ehd.1	+	0	748	c.27C>T	c.(25-27)ctC>ctT	p.L9L	MAN1A2_uc009whg.1_5'UTR	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	9					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGCTGCCCCTCTCTGGACGTA	0.463000														117			7		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111547	55111547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55111547G>A	uc010rie.2	+	0	871	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GAGACAATCAGAGATGAAAAA	0.323000														2			3		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802528	222802528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:222802528C>T	uc001hnl.3	+	3	1975	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	MIA3_uc009xea.1_Missense_Mutation_p.P492S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	656					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGAAATCTTCCCTGGCAACA	0.463000														241			32		0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254491	49254491	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49254491G>A	uc002pkk.3	-	3	1023	c.48C>T	c.(46-48)gtC>gtT	p.V16V	FUT1_uc021uwy.1_Silent_p.V16V	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	16					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGAGGACACAGACTAGCAGGA	0.572000														39			5		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966798	23966798	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:23966798G>A	uc002wts.3	-	2	352	c.219C>T	c.(217-219)ctC>ctT	p.L73L	GGTLC1_uc002wtu.3_Silent_p.L73L|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	73							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTTCATTATTGAGCAGGATCC	0.582000														91			17		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825099	74825099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74825099C>T	uc021rwl.1	+	0	1613	c.1613C>T	c.(1612-1614)cCt>cTt	p.P538L	VRTN_uc001xpw.4_Missense_Mutation_p.P538L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	538					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCCTGTCACCTTCTGCCTTT	0.657000														85			4		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105143	168105143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168105143G>A	uc002udx.3	+	8	7330	c.7241G>A	c.(7240-7242)gGa>gAa	p.G2414E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G2239E|XIRP2_uc010fpq.3_Missense_Mutation_p.G2192E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2239					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						ATCATAACAGGAAAAACCGGT	0.438000														20			4		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018477	23018477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:23018477G>A	uc004daj.3	+	0	400	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	101	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATAGGGAAATGAAAGCAAAGG	0.368000														32			4		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41705177	41705177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:41705177G>A	uc003ckv.4	-	29	3193	c.2992C>T	c.(2992-2994)Ctt>Ttt	p.L998F		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	998							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)		GGTTCTAAAAGAATGTGCTCA	0.368000														21			5		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228958	26228958	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26228958C>T	uc003abz.1	+	15	3304	c.3054C>T	c.(3052-3054)ccC>ccT	p.P1018P	MYO18B_uc003aca.1_Silent_p.P899P|MYO18B_uc010guy.1_Silent_p.P899P|MYO18B_uc010guz.1_Silent_p.P899P|MYO18B_uc011aka.1_Silent_p.P172P|MYO18B_uc011akb.1_Silent_p.P531P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCAAAATCCCTCTCAGGTAA	0.498000														70			9		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67154915	67154915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:67154915C>T	uc001dcr.3	+	15	1617	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	SGIP1_uc010opd.2_Missense_Mutation_p.S67F|SGIP1_uc001dcs.3_Missense_Mutation_p.S67F|SGIP1_uc001dct.3_Missense_Mutation_p.S67F|SGIP1_uc009wat.3_Missense_Mutation_p.S261F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	467	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CGGCCTCCATCCCGGCCAAAG	0.537000														158			22		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42729662	42729662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42729662G>A	uc003clv.1	+	1	1281	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	394										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GAGTGGCTGGGGATGCCACCG	0.657000														58			8		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496330	52496330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:52496330C>T	uc001wzo.3	-	9	2570	c.2336G>A	c.(2335-2337)gGg>gAg	p.G779E	NID2_uc010tqs.2_Missense_Mutation_p.G779E|NID2_uc010tqt.1_Missense_Mutation_p.G779E|NID2_uc001wzp.3_Missense_Mutation_p.G779E	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	779	EGF-like 2.					basement membrane	calcium ion binding|collagen binding	p.P778S(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TACACCTGTCCCTGGATGGCA	0.537000														44			7		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41573208	41573208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41573208G>A	uc003xok.3	-	13	1648	c.1564C>T	c.(1564-1566)Ctt>Ttt	p.L522F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.L522F|ANK1_uc003xoj.3_Missense_Mutation_p.L522F|ANK1_uc003xol.3_Missense_Mutation_p.L522F|ANK1_uc003xom.3_Missense_Mutation_p.L555F	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	522	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.L522H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTTCCAGAAGGGCCAGGACT	0.622000														56			6		0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156279062	156279062	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156279062G>A	uc001fol.2	-	13	1797	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	CCT3_uc010phj.2_Silent_p.I476I|CCT3_uc010phk.2_Silent_p.I476I|CCT3_uc001fon.2_Silent_p.I484I|CCT3_uc010phl.2_Silent_p.I476I	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	522					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGCCTGAAACGATGTCATCAA	0.502000														98			8		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532595	71532595	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:71532595G>A	uc004agu.3	+	8	1208	c.903G>A	c.(901-903)aaG>aaA	p.K301K	PIP5K1B_uc011lrq.2_Silent_p.K301K|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	301	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GGATGCAGAAGGTTCTCTACT	0.502000														52			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719074	140719074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140719074C>T	uc003ljk.2	+	0	721	c.536C>T	c.(535-537)tCc>tTc	p.S179F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S179F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	179	Cadherin 2.				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)			GACCACTTCTCCCTGGACGTG	0.557000														59			5		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326955	152326955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152326955C>T	uc001ezw.4	-	2	3380	c.3307G>A	c.(3307-3309)Gga>Aga	p.G1103R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1103	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTTGTCCAAATCCAGAT	0.512000														93			6		0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125479474	125479474	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:125479474C>T	uc001qcd.2	+	9	1217	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	STT3A_uc009zbm.2_Silent_p.F369F|STT3A_uc001qce.2_Silent_p.F369F|STT3A_uc010sbg.1_Silent_p.F277F|STT3A_uc009zbn.2_Intron	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	369					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCCTCGTCTTCATGTTTCCAG	0.438000														89			5		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208639	65208639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65208639C>T	uc001xhp.2	+	15	2806	c.2767C>T	c.(2767-2769)Ccc>Tcc	p.P923S	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P746S|PLEKHG3_uc001xho.1_Missense_Mutation_p.P802S|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P344S|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P307S	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	802					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)		GGACCCACCTCCCATCTCAGA	0.622000														87			17		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334806	142334806	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142334806C>T	uc003vzp.2	+	1	283	c.228C>T	c.(226-228)gtC>gtT	p.V76V	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Silent_p.V77V|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCAAGGCGTCGAGAAGGACA	0.512000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			13		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111235	81111235	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81111235C>T	uc001szg.2	+	0	528	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	131	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCGCTACATCGAGAGCCTGC	0.592000														83			9		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621203	38621203	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38621203C>T	uc002ohk.3	+	9	3443	c.2934C>T	c.(2932-2934)ggC>ggT	p.G978G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	978	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCAGCTGGGCTTCCACGTGA	0.657000														82			18		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174515	51174515	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51174515T>C	uc021tif.1	-	1	1649	c.1327A>G	c.(1327-1329)Agc>Ggc	p.S443G	SALL1_uc021tid.1_Missense_Mutation_p.S443G|SALL1_uc021tie.1_Missense_Mutation_p.S540G|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	540					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S442S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTAGCCAGCTGGTGACTGGC	0.562000														74			9		0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50614589	50614589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50614589C>T	uc003dau.3	+	4	817	c.521C>T	c.(520-522)tCc>tTc	p.S174F	HEMK1_uc003dav.3_Missense_Mutation_p.S174F	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	174					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GGAGCCATCTCCCTCAGCCTG	0.632000														64			5		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100341	160100341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160100341C>T	uc001fvc.3	+	12	1913	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V	ATP1A2_uc001fvb.2_Missense_Mutation_p.A594V|ATP1A2_uc001fvd.3_Missense_Mutation_p.A330V|ATP1A2_uc009wtg.1_Missense_Mutation_p.A282V	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	594					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTCCCCGGGCTGCTGTGCCA	0.567000														52			7		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974974	20974974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20974974G>A	uc010vbe.2	-	52	10232	c.10232C>T	c.(10231-10233)gCt>gTt	p.A3411V	DNAH3_uc010vbd.2_Missense_Mutation_p.A846V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3411					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3411D(3)		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)		CCATTGGGGAGCTGGATTGGG	0.527000														47			7		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092161	143092161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:143092161G>A	uc003qjd.3	-	4	4458	c.3715C>T	c.(3715-3717)Cag>Tag	p.Q1239*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1239					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)		TAGCTCTTCTGAGGGTGCTGA	0.493000														99			7		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652319	34652319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34652319G>A	uc001zig.3	-	11	1329	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	412					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TACCTCAAAGGCCAGACGAGT	0.577000														75			5		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805496	24805496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24805496G>A	uc001wpb.3	-	9	1652	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.P281L|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.P260L	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	481					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTTGCCCGAAGGTGCCAAGCC	0.552000														98			10		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026527	36026527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36026527C>T	uc001bza.3	+	3	902	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Missense_Mutation_p.R259W|NCDN_uc001bzc.3_Missense_Mutation_p.R242W	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	259					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAATGCTACCGGGATCTGCA	0.632000														96			9		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543371	182543371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:182543371C>T	uc021vto.1	-	0	217	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.E73K|NEUROD1_uc021vtn.1_Missense_Mutation_p.E73K	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	73	Glu-rich (acidic).|Poly-Glu.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			tcctcctcttcctcttcttcc	0.542000														385			25		0	0	1	0	0
FAM116B	414918	broad.mit.edu	37	22	50755728	50755728	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50755728G>A	uc011arv.1	-	4	519	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	149										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCTTCTGGAAGTAGCCCC	0.637000														30			10		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657186	143657186	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143657186G>A	uc003wds.1	+	0	167	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCGTGCTGGGGAACTGTCTCA	0.522000														96			28		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205126506	205126507	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205126506_205126507CA>AG	uc001hbw.3	-	9	2310_2311	c.2246_2247TG>CT	c.(2245-2247)ctg>cCT	p.L749P	DSTYK_uc001hbx.3_Missense_Mutation_p.L749P	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	749	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCTCCAGGGTCAGCCCAGCCTT	0.470000														25			5		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73462009	73462009	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73462009C>T	uc003tzw.3	+	12	739	c.648C>T	c.(646-648)ggC>ggT	p.G216G	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Silent_p.G216G|ELN_uc003tzy.3_Silent_p.G211G|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Silent_p.G172G|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.G216G|ELN_uc003tzt.3_Silent_p.G221G|ELN_uc003tzu.3_Silent_p.G221G|ELN_uc003tzv.3_Silent_p.G206G|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.G206G|ELN_uc011kff.2_Silent_p.G216G	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	216					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCCAGGTGGCTATGGACTGC	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							92			5		0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729201	99729201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:99729201G>A	uc003ppj.4	-	5	1352	c.1069C>T	c.(1069-1071)Ccg>Tcg	p.P357S	FAXC_uc003ppi.4_Missense_Mutation_p.P77S	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	357																	TCCAGCAGCGGGGTGTGGGTT	0.473000														21			7		0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39355623	39355623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39355623G>A	uc003awn.2	+	1	276	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	APOBEC3B_uc011aob.1_Missense_Mutation_p.E18K|APOBEC3B_uc011aoc.1_Missense_Mutation_p.E36K	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	219					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)					CCTGTGCTACGAAGTGGAGCG	0.537000														70			11		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416477	9416477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9416477C>T	uc010oae.2	+	1	866	c.527C>T	c.(526-528)tCc>tTc	p.S176F	SPSB1_uc001apv.3_Missense_Mutation_p.S176F	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	176	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCCTGACTCCTTCCTGGTA	0.537000														140			7		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013627	75013627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75013627G>A	uc002ayp.4	-	4	1201	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	CYP1A1_uc010bjy.3_Missense_Mutation_p.S360F|CYP1A1_uc010bju.3_Missense_Mutation_p.S96F|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.S96F|CYP1A1_uc002ayq.4_Missense_Mutation_p.S360F|CYP1A1_uc010bjz.1_Missense_Mutation_p.S96F	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	360					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGATCTGTCAGAGAGCCGGGG	0.607000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					78			5		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31621460	31621460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31621460C>T	uc002rnv.1	-	4	491	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	138					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.E137E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCTCAATCTCCTCCATGGTG	0.587000														87			5		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97043765	97043765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:97043765C>T	uc021rcc.1	+	1	140	c.62C>T	c.(61-63)tCt>tTt	p.S21F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	21										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CAATCAGGTTCTAGTGCTAAA	0.338000														31			3		0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21743222	21743222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21743222G>A	uc002kve.3	-	27	2991	c.2774C>T	c.(2773-2775)cCc>cTc	p.P925L	OSBPL1A_uc002kvd.3_Missense_Mutation_p.P412L|OSBPL1A_uc010xbc.2_Missense_Mutation_p.P543L	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	925					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCATTGTAGGGATTAGGACC	0.408000														34			3		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221604	59221604	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59221604C>T	uc010dps.1	+	10	2234	c.2082C>T	c.(2080-2082)gcC>gcT	p.A694A	CDH20_uc002lif.2_Silent_p.A688A	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	694				A -> G (in Ref. 1; AAG23739).	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)				CGGGGGCCGCCCCCAAGACGC	0.692000														54			8		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159899586	159899586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159899586G>A	uc001fur.2	-	16	2366	c.2168C>T	c.(2167-2169)tCg>tTg	p.S723L	IGSF9_uc001fuq.2_Missense_Mutation_p.S707L|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	723						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCGTGCGCGAAGGGTAGAC	0.697000														9			5		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39003027	39003027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39003027G>A	uc002oit.3	+	62	9506	c.9376G>A	c.(9376-9378)Ggc>Agc	p.G3126S	RYR1_uc002oiu.3_Missense_Mutation_p.G3126S|RYR1_uc002oiv.1_Missense_Mutation_p.G46S|RYR1_uc010xuf.1_Missense_Mutation_p.G46S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3126					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)	GAAAGGCGTGGGCCAGAACCT	0.622000														47			4		0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957840	61957840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61957840G>A	uc002jcl.1	-	3	810	c.748C>T	c.(748-750)Caa>Taa	p.Q250*	GH2_uc002jcn.1_Silent_p.F150F|GH2_uc002jco.1_Silent_p.F165F|GH2_uc002jcm.1_Missense_Mutation_p.S164L	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGGACTGATTGAAGATCTGCC	0.542000														81			7		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030767	3030767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3030767G>A	uc002fvc.1	-	0	79	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GACCCAAAGAGGGGCTTCTGC	0.498000														35			5		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893205	144893205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144893205G>A	uc003yzp.1	-	10	1151	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	SCRIB_uc003yzo.1_Missense_Mutation_p.L382F	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	382	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGCCTTGAGATTGAGGTGG	0.677000														16			4		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543375	10543375	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10543375G>A	uc002gmq.2	-	21	2708	c.2620C>T	c.(2620-2622)Cta>Tta	p.L874L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	874					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTTCCTCTAGCTCCTTCCTT	0.433000														61			7		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545963	138545963	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138545963G>A	uc011kql.2	-	15	5218	c.5169C>T	c.(5167-5169)acC>acT	p.T1723T	KIAA1549_uc011kqi.2_Silent_p.T507T|KIAA1549_uc011kqk.2_Silent_p.T507T|KIAA1549_uc011kqj.2_Silent_p.T1723T	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1723						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTGGGAAGGGGTGCTGTTTG	0.657000			O	BRAF	pilocytic astrocytoma									62			17		0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961765	99961765	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:99961765G>A	uc011lgx.2	+	2	1369	c.948G>A	c.(946-948)acG>acA	p.T316T	OSR2_uc010mbn.2_Silent_p.T195T|OSR2_uc003yir.3_Silent_p.T195T|OSR2_uc003yiq.3_Silent_p.T195T	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	195					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACCCACACGGACGAGAGGC	0.537000														137			11		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38991518	38991518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38991518C>T	uc002oit.3	+	46	7632	c.7502C>T	c.(7501-7503)tCc>tTc	p.S2501F	RYR1_uc002oiu.3_Missense_Mutation_p.S2501F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2501	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)	CACAAGGCGTCCATGGTGCTC	0.637000														41			5		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78073553	78073553	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78073553C>T	uc010dht.3	+	19	3439	c.3408C>T	c.(3406-3408)ctC>ctT	p.L1136L	CCDC40_uc002jxm.4_Silent_p.L919L|CCDC40_uc002jxn.4_Silent_p.L532L|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1136					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAACAAGCTCGAGTCACCAG	0.602000														31			5		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204128682	204128682	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204128682C>T	uc001haq.2	-	4	578	c.534G>A	c.(532-534)acG>acA	p.T178T		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	178					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CGGGCATCTCCGTGACCTCTC	0.577000														50			8		0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132439672	132439672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:132439672C>T	uc003kyj.3	+	17	2554	c.2273C>T	c.(2272-2274)aCc>aTc	p.T758I		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	758					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGAGTTTGACCATGGATCCA	0.338000														33			6		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330750	125330750	+	Silent	SNP	T	G	G	rs111916014		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125330750T>G	uc004bmp.1	-	0	7	c.7A>C	c.(7-9)Aga>Cga	p.R3R		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGTTGATTCTTTCCATTGAC	0.433000														26			4		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200523668	200523668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200523668G>A	uc010ppk.1	-	28	4934	c.4495C>T	c.(4495-4497)Cgt>Tgt	p.R1499C	KIF14_uc010ppj.1_Missense_Mutation_p.R1008C	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1499	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTGGAGCACGATTAACCATC	0.279000														21			3		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236136	19236136	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19236136G>C	uc002dfw.3	+	6	1535	c.1204G>C	c.(1204-1206)Gaa>Caa	p.E402Q	SYT17_uc002dfx.3_Missense_Mutation_p.E341Q|SYT17_uc002dfy.3_Missense_Mutation_p.E398Q	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	402	C2 2.					membrane|synaptic vesicle	transporter activity	p.E402K(2)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGAAGAACTGGAAAATGCCAG	0.448000														37			8		0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47493861	47493861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:47493861G>A	uc001nfp.3	-	14	1868	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CELF1_uc001nfl.3_Missense_Mutation_p.S461F|CELF1_uc010rhm.2_Missense_Mutation_p.S460F|CELF1_uc001nfm.3_Missense_Mutation_p.S458F|CELF1_uc001nfk.2_Missense_Mutation_p.S487F|CELF1_uc001nfn.3_Missense_Mutation_p.S457F|CELF1_uc001nfr.1_Missense_Mutation_p.S461F	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	461					RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GCCGTTCATGGACTGGATGGC	0.502000														119			6		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999205	113999205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113999205C>T	uc010yxt.2	-	6	866	c.700G>A	c.(700-702)Gag>Aag	p.E234K	PAX8_uc010yxu.2_Missense_Mutation_p.E234K|PAX8_uc002tjm.3_Missense_Mutation_p.E234K|PAX8_uc002tjn.3_Missense_Mutation_p.E234K|PAX8_uc010fku.1_Missense_Mutation_p.E234K|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	234					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCGAGCGGCTCGAGGTGGTGC	0.627000			T	PPARG	follicular thyroid		Thyroid dysgenesis							35			4		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145414803	145414803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145414803C>T	uc001eni.2	+	1	347	c.22C>T	c.(22-24)Cct>Tct	p.P8S	HFE2_uc001enk.2_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	8					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)					AGGCCAGTCCCCTAGTCCCAG	0.592000														51			7		0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48906544	48906544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:48906544C>T	uc003gyt.3	-	1	226	c.23G>A	c.(22-24)gGa>gAa	p.G8E	OCIAD2_uc003gyu.3_Missense_Mutation_p.G8E	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	8	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						ATCTTGGTTTCCACGAGCAGA	0.433000														55			14		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788232	21788232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21788232G>A	uc001wag.3	+	10	1363	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E97K|RPGRIP1_uc001wai.3_Missense_Mutation_p.E97K|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.3_5'Flank|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	455					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCATAAACAGGAAGTAGAGCT	0.428000														22			5		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033762	40033762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:40033762G>A	uc002xka.1	-	36	7797	c.7619C>T	c.(7618-7620)cCa>cTa	p.P2540L	CHD6_uc002xjz.1_Missense_Mutation_p.P77L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2540					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCCATGGGTGGACTGAGGAG	0.562000														103			10		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895613	16895613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16895613G>A	uc009vos.1	-	22	3457	c.2569C>T	c.(2569-2571)Cac>Tac	p.H857Y	NBPF1_uc009vot.1_Missense_Mutation_p.H315Y|NBPF1_uc001ayz.1_Missense_Mutation_p.H315Y|NBPF1_uc010oce.1_Missense_Mutation_p.H586Y	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	857	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTAATGAGTGAAATGTGCCG	0.502000														403			13		0	0	1	0	0
TREML5P	221438	broad.mit.edu	37	6	41217213	41217213	+	RNA	SNP	C	T	T	rs61734087		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41217213C>T	uc003oqe.1	+	0		c.99C>T								Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA.																		AGCCTGGTTTCACCCAAGTCT	0.562000														59			7		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178165	142178165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142178165G>A	uc003yvy.3	+	12	1854	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	DENND3_uc010mep.3_Missense_Mutation_p.E487K|DENND3_uc003yvz.1_Missense_Mutation_p.E210K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	526										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTCCGCTGGAGAGCAAGTG	0.532000														107			6		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56234926	56234926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56234926G>A	uc001sib.3	-	2	389	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.P90S	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	90					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TGGTTGAAGGGATCCTCTAGG	0.552000														101			11		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73945888	73945888	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73945888G>A	uc002jqe.3	-	9	1750	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	ACOX1_uc010wsq.2_Silent_p.I425I|ACOX1_uc010wsr.2_Silent_p.I395I|ACOX1_uc002jqf.3_Silent_p.I463I	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	463					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						GCTGTGGCTGGATGCGCTGAC	0.517000														69			6		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794808	7794808	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7794808C>T	uc002mhp.4	-	7	711	c.642G>A	c.(640-642)cgG>cgA	p.R214R	CLEC4G_uc021uny.1_Silent_p.R202R	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	214	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CACGCGTGTTCCGAGTGAGGA	0.672000														45			11		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702350	43702350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43702350C>T	uc002ovy.3	-	2	610	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PSG4_uc010xwk.1_Missense_Mutation_p.D9N|PSG4_uc002ovz.3_Missense_Mutation_p.D170N|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	170	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTCGCAGGATCACAGGTTAAG	0.542000														130			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9080501C>T	uc002mkp.3	-	1	9734	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		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						CGTGGAATTTCCTTGTGCTGC	0.498000														46			5		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542183	133542183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133542183C>T	uc002ttp.3	-	13	2575	c.2201G>A	c.(2200-2202)aGg>aAg	p.R734K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	734							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						CTCTTCAGACCTTTTAAAGAA	0.428000														41			7		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657899	72657899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72657899C>T	uc003txs.1	-	12	2013	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ggccaggtctcggatccaatc	0.478000														115			5		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39645993	39645993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39645993G>A	uc002hwt.3	-	0	124	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	42	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCACCGGCGAGACTGGGGACC	0.622000														57			9		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32653147	32653147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:32653147C>T	uc001utx.3	+	1	743	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	83					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)		ACGCAAGATTCGTATCATTAT	0.413000														40			6		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445407	85445407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:85445407G>A	uc010rth.2	-	5	1351	c.962C>T	c.(961-963)tCt>tTt	p.S321F	SYTL2_uc010rtg.2_Missense_Mutation_p.S322F|SYTL2_uc010rti.2_Missense_Mutation_p.S321F|SYTL2_uc010rtj.2_Missense_Mutation_p.S273F|SYTL2_uc001pbf.4_Missense_Mutation_p.S321F|SYTL2_uc010rtf.2_Missense_Mutation_p.S179F	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	321					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTTTGGGGAAGAGTTGTCTTC	0.453000														87			6		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28101482	28101482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28101482G>A	uc009xky.3	-	19	3192	c.3094C>T	c.(3094-3096)Cgc>Tgc	p.R1032C	ARMC4_uc010qds.2_Silent_p.S597S|ARMC4_uc010qdt.2_Missense_Mutation_p.R724C|ARMC4_uc001itz.3_Missense_Mutation_p.R1032C	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	1032							binding	p.R1032H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCCAGCCTGCGGATATTGGAT	0.463000														29			10		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927562	10927562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10927562G>A	uc003mzo.3	+	16	1698	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.E88K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	468						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGACCAATCTGAGCCACCTGT	0.443000														25			8		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60511930	60511930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60511930G>A	uc002ybn.2	+	15	2768	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CDH4_uc002ybr.2_Missense_Mutation_p.D857N|CDH4_uc002ybp.2_Missense_Mutation_p.D820N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	894					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAAGACTACGATTACCTCAA	0.587000														44			13		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408849	141408849	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141408849A>G	uc003vwn.2	+	0	697	c.291A>G	c.(289-291)caA>caG	p.Q97Q	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	97					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACCAGCCCAACCAGACAGCA	0.527000														49			11		0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464174	141464174	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141464174T>C	uc003vwp.1	+	0	278	c.216T>C	c.(214-216)tcT>tcC	p.S72S		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	72					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TAGAATTCTCTCCCAACACAC	0.398000														71			17		0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417110	20417110	+	Silent	SNP	C	T	T	rs144012929		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20417110C>T	uc001bcx.3	+	9	1298	c.435C>T	c.(433-435)ctC>ctT	p.L145L	PLA2G5_uc001bcy.3_Silent_p.L114L	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	114					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.L114L(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		ACCGGAAGCTCGTCTACTGCC	0.567000														81			18		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347282	222347282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:222347282C>T	uc002vmq.3	-	4	1150	c.1108G>A	c.(1108-1110)Gga>Aga	p.G370R	EPHA4_uc002vmr.2_Missense_Mutation_p.G370R|EPHA4_uc010zlm.1_Missense_Mutation_p.G311R	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	370	Fibronectin type-III 1.		G -> E (in a bladder carcinoma NOS sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.G370E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCACCAGCTCCACATTTCTTG	0.512000														73			19		0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10600447G>A	uc002moq.1	-	3	1564	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R470C(6)|p.R470S(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557000														39			4		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41056227	41056227	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41056227G>A	uc002ony.3	+	21	4754	c.4668G>A	c.(4666-4668)aaG>aaA	p.K1556K	SPTBN4_uc002onx.3_Silent_p.K1556K|SPTBN4_uc002onz.3_Silent_p.K1556K|SPTBN4_uc010egx.3_Silent_p.K299K|SPTBN4_uc010egy.1_Silent_p.K232K|SPTBN4_uc002ooa.3_Silent_p.K232K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1556					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACATCAAAAAGAACCAGGTGA	0.522000														56			4		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409013	56409013	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56409013C>T	uc001njb.1	-	0	903	c.903G>A	c.(901-903)aaG>aaA	p.K301K	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTTTTACATCCTTATTTTTTA	0.343000														30			3		0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396351	34396351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34396351G>A	uc001zho.3	+	0	2078	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	540										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CCAACTGGTCGCTGCAAAATT	0.493000														36			6		0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3784541	3784541	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3784541T>C	uc001alc.3	+	3	757	c.434T>C	c.(433-435)tTg>tCg	p.L145S	DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Missense_Mutation_p.L169S|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Missense_Mutation_p.L96S|DFFB_uc001ald.3_Missense_Mutation_p.L81S	NM_004402	NP_004393	O76075	DFFB_HUMAN	Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA.	145					DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTGCAGGCTTGGAGTCCCGA	0.592000														231			27		0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62229133	62229133	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62229133G>A	uc002yfp.1	-	3	917	c.438C>T	c.(436-438)atC>atT	p.I146I	GMEB2_uc002yfo.1_Silent_p.I68I|GMEB2_uc002yfq.1_Silent_p.I146I	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	146	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGTTCATGCGGATGGCTCTCT	0.592000														31			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766188	13766188	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13766188T>A	uc003jfd.2	-	58	10040	c.9998A>T	c.(9997-9999)aAa>aTa	p.K3333I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3333	Stalk (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)					AGCACTGACTTTCCTTTGAAA	0.498000									Kartagener syndrome					46			6		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054225	29054225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29054225G>A	uc002kws.3	+	14	2352	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	DSG3_uc002kwt.3_Missense_Mutation_p.G30E	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	748					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGCTTCAGGATTCGGAGCA	0.532000														23			6		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17836764	17836764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17836764C>T	uc002nhe.1	+	4	580	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.L165F	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	191	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGCGCTCCGGCTCCAGCTGCG	0.682000														18			7		0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679817	63679817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63679817C>T	uc001nyc.3	-	10	1605	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CAATGGAGCCCCTCTCCTAGC	0.652000														100			9		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130283894	130283894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:130283894G>A	uc010htl.3	+	2	749	c.718G>A	c.(718-720)Gga>Aga	p.G240R		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	240	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						GTCAATCAATGGAAGTGAGGA	0.428000														103			14		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65216835	65216835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65216835C>T	uc001xhr.3	-	32	6691	c.6640G>A	c.(6640-6642)Gag>Aag	p.E2214K	SPTB_uc001xhs.3_Missense_Mutation_p.E2214K|SPTB_uc010aqi.3_Missense_Mutation_p.E910K	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA.	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AAGGTTAGCTCACTGTTCCTG	0.537000														68			11		0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	211952301	211952301	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:211952301G>A	uc001hiu.3	-	5	1626	c.813C>T	c.(811-813)atC>atT	p.I271I	LPGAT1_uc001hiv.3_Silent_p.I271I	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA.	271					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TGTATCCAAGGATCCAGGTTT	0.363000														104			29		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35478537C>T	uc003anj.3	+	1	1207	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000														69			5		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797031	127797031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:127797031C>T	uc003qbd.3	-	5	3005	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	714						integral to membrane											CCGCTGAGCTCGTTGATCTGC	0.657000														96			16		0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417850	46417850	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46417850C>T	uc002pdu.3	-	0	187	c.102G>A	c.(100-102)gaG>gaA	p.E34E		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.	34					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GCTCCTCAATCTCTTGGGTCT	0.652000														79			9		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2798227	2798227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2798227C>T	uc001lwn.3	+	13	1805	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	KCNQ1_uc009ydp.1_Missense_Mutation_p.S350F|KCNQ1_uc001lwo.3_Missense_Mutation_p.S439F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	566			S -> F (in LQT1).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CTGGACCAGTCCATTGGGAAG	0.597000														281			23		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040808	80040808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80040808G>A	uc002kdu.3	-	32	5866	c.5749C>T	c.(5749-5751)Cgc>Tgc	p.R1917C	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1917	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATCCCGGAGCGAGAAGTCAAC	0.647000														21			7		0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618496	170618496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:170618496C>T	uc003ish.3	+	8	1733	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	CLCN3_uc003isi.3_Missense_Mutation_p.P392S|CLCN3_uc011cka.2_Missense_Mutation_p.P365S|CLCN3_uc011cjz.2_Missense_Mutation_p.P375S|CLCN3_uc003isj.2_Missense_Mutation_p.P365S	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	392					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGAACTGTTTCCTTTTATTCT	0.433000														55			6		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424395	56424395	+	Missense_Mutation	SNP	G	A	A	rs137923694		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56424395G>A	uc010ygg.2	-	4	813	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	263	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)		GAAAACATAGGAGAACCTTTG	0.468000														40			6		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879272	209879272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209879272G>A	uc001hhj.3	+	2	337	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	HSD11B1_uc021pin.1_Missense_Mutation_p.E69K|HSD11B1_uc001hhk.3_Missense_Mutation_p.E69K	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	69					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAGGTCAAAAGAAACTCTACA	0.478000														21			5		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948525	204948525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204948525C>T	uc010prc.2	+	17	2244	c.715C>T	c.(715-717)Cct>Tct	p.P239S	NFASC_uc001hbj.3_Missense_Mutation_p.P672S|NFASC_uc010pra.2_Missense_Mutation_p.P668S|NFASC_uc001hbi.3_Missense_Mutation_p.P668S|NFASC_uc010prb.2_Missense_Mutation_p.P683S|NFASC_uc001hbk.1_Missense_Mutation_p.P478S|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	672					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAGTTCCAACCTGGGGTCTG	0.527000														87			5		0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257127	114257127	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:114257127C>T	uc002tjw.4	+	0	467	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	98					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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CTGCGGCGGCCTCTGAAGATG	0.682000														138			15		0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125887820	125887820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:125887820G>A	uc003ktx.3	-	13	1402	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	ALDH7A1_uc003ktv.3_Missense_Mutation_p.R25C|ALDH7A1_uc011cxa.2_Missense_Mutation_p.R367C	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	404					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TTTCCAGGGCGATCCATAACC	0.398000														12			4		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327912	52327912	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52327912T>C	uc002pxt.1	+	1	1095	c.911T>C	c.(910-912)tTt>tCt	p.F304S	FPR3_uc021uyq.1_Missense_Mutation_p.F304S	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	304					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTCTACGTCTTTATGGGTCGT	0.458000														29			8		0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192646	41192646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41192646C>T	uc001zne.3	+	3	1969	c.1630C>T	c.(1630-1632)Cat>Tat	p.H544Y		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	544					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)		GGCCTCTATCCATGAGCTGCT	0.562000														151			9		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804646	43804646	+	Missense_Mutation	SNP	C	T	T	rs148103941		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43804646C>T	uc002xng.3	+	1	248	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	75	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AAGCCTGGCTCCTGCCCCATT	0.488000														41			10		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378319	31378319	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31378319G>A	uc003tch.3	-	1	917	c.564C>T	c.(562-564)ttC>ttT	p.F188F	NEUROD6_uc022abi.1_Silent_p.F188F	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	188					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.F188S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GACCCATCAGGAAACTCCTGG	0.567000														66			7		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364996	11364996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:11364996G>A	uc003jfa.1	-	7	1329	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	CTNND2_uc010itt.2_Missense_Mutation_p.S304F|CTNND2_uc011cmy.1_Missense_Mutation_p.S58F|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	395					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGAGGCTCGGGAACCAGCTGA	0.488000														66			13		0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435764	7435764	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:7435764C>T	uc011bwj.2	-	0	937	c.843G>A	c.(841-843)agG>agA	p.R281R	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	281					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CGCTCTGTTTCCTTGGCAACC	0.602000														36			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179568878G>A	uc021vsy.1	-	102	26712	c.26487C>T	c.(26485-26487)atC>atT	p.I8829I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I5490I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9756	Ig-like 71.						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)			ACGCACCTTCGATTCTGAGTT	0.468000														99			13		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629323	47629323	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:47629323C>T	uc001rpq.3	+	1	1002	c.477C>T	c.(475-477)ctC>ctT	p.L159L	FAM113B_uc001rpn.3_Silent_p.L159L|FAM113B_uc021qxi.1_Silent_p.L159L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	159							hydrolase activity	p.L159L(2)		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)					AGTCTTGCCTCCTGGTGTGGA	0.612000														39			6		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:57354177G>A	uc003xsz.2	-	1	539	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_uc003xta.3_Missense_Mutation_p.S153F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527000														108			7		0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27238898	27238898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27238898C>T	uc003szb.1	-	0	828	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	267					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCCAAGGGTTCGTGGCGCGAC	0.677000			T	NUP98	AML									39			4		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947882	35947882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35947882C>T	uc003anx.3	+	2	809	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	RASD2_uc003any.3_Missense_Mutation_p.R202C	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	202	Interaction with GNB1, GNB2 and GNB3.				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						CGCCCTGCATCGCAAGATCTC	0.612000														41			5		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928671	10928671	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10928671C>T	uc003mzo.3	+	17	1772	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Silent_p.F112F	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	492						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctgacttcccgcaacaAC	0.498000														35			5		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155742921	155742921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155742921G>A	uc001flz.2	-	17	2528	c.2431C>T	c.(2431-2433)Cca>Tca	p.P811S	GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.P811S|GON4L_uc009wrh.1_Missense_Mutation_p.P811S|GON4L_uc001fma.1_Missense_Mutation_p.P811S|GON4L_uc001fmb.4_Missense_Mutation_p.P7S|GON4L_uc001fmc.3_Missense_Mutation_p.P811S|GON4L_uc001fmd.4_Missense_Mutation_p.P811S|GON4L_uc009wri.3_Missense_Mutation_p.P397S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	811					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAACACACTGGAAGTAACTCT	0.443000														69			6		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179696	59179696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59179696G>A	uc002afp.3	-	17	2507	c.2419C>T	c.(2419-2421)Cct>Tct	p.P807S	SLTM_uc002afn.3_Missense_Mutation_p.P349S|SLTM_uc002afo.3_Missense_Mutation_p.P789S|SLTM_uc002afq.3_Missense_Mutation_p.P376S|SLTM_uc010bgd.3_Missense_Mutation_p.P376S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	807	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTGCAGTAGGTCGTGCTTTT	0.418000														74			5		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702528	30702528	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30702528G>A	uc003xil.3	-	0	4006	c.4006C>T	c.(4006-4008)Cag>Tag	p.Q1336*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1336										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTGATAACTGAGGAATACTG	0.383000														45			5		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33509371	33509371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33509371C>T	uc010gey.2	+	12	1595	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	ACSS2_uc002xbc.2_Missense_Mutation_p.P384S|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Missense_Mutation_p.P479S|ACSS2_uc002xbe.2_Missense_Mutation_p.P187S	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	479					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GACTCCCCTTCCTGGTGCCAC	0.562000														122			15		0	0	1	0	0
ZNF446	55663	broad.mit.edu	37	19	58988660	58988660	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58988660C>T	uc002qsz.3	+	1	192	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ZNF446_uc002qta.3_Silent_p.A25A|ZNF446_uc010eur.3_Silent_p.A25A	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	25					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGAGACTGCCCGCCTCCGCT	0.657000														117			9		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331667	70331667	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70331667G>A	uc001oqc.3	-	20	4645	c.4533C>T	c.(4531-4533)atC>atT	p.I1511I	SHANK2_uc010rqn.2_Silent_p.I987I|SHANK2_uc001opz.3_Silent_p.I982I|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.	1198					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)			cgggcggggggATAACAAAGC	0.577000														72			10		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109046861	109046861	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:109046861A>G	uc003dxq.4	-	6	944	c.889T>C	c.(889-891)Tta>Cta	p.L297L	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	297						nucleus	protein binding	p.V296V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTTTTTATTAAGACCTTGTTC	0.353000														134			11		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760565	92760565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:92760565C>T	uc003umh.1	-	4	5936	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K	SAMD9L_uc003umj.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1574K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E1574K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1574										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGGGCCTTCAATGGAAAAT	0.323000														7			3		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005525	25005525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25005525G>A	uc003grf.2	-	7	1285	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	396						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGGATGATGGGGACCTGGGAG	0.517000														83			5		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814360	123814360	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123814360G>A	uc010sab.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AATTCCGCAGGAAGAAGTACA	0.488000														43			8		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10293807	10293808	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10293807_10293808CT>TA	uc002gmm.2	-	39	5872_5873	c.5777_5778AG>TA	c.(5776-5778)aag>aTA	p.K1926I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1926					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						CCTCTCGGCTCTTCACTCGCAA	0.470000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					116			9		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644566	169644566	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169644566C>T	uc003fgd.3	+	5	783	c.516C>T	c.(514-516)caC>caT	p.H172H	SAMD7_uc003fge.3_Silent_p.H172H|SAMD7_uc011bpo.2_Silent_p.H73H	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	172										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CTGCACCACACTTTGAGGAGA	0.522000														64			4		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65261237	65261237	+	Silent	SNP	C	A	A	rs141777371	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65261237C>A	uc001xht.3	-	11	1794	c.1743G>T	c.(1741-1743)ggG>ggT	p.G581G	SPTB_uc001xhr.3_Silent_p.G581G|SPTB_uc001xhs.3_Silent_p.G581G|SPTB_uc001xhu.3_Silent_p.G581G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	581					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCACTTTGTCCCCTTGGATGG	0.542000														155			17		3.52763e-06	3.57082e-06	1	1	0
TCRA	0	broad.mit.edu	37	14	22265852	22265852	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22265852C>T	uc010air.1	+	1	267	c.135C>T	c.(133-135)tcC>tcT	p.S45S	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		GCAACTATTCCTATGGTGGAA	0.478000														58			4		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828693	57828693	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57828693C>T	uc001snv.1	+	0	151	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	8					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGCTTCTGGCCTTTCTCCTCC	0.602000														30			5		0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636190	18636190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18636190G>A	uc001moy.3	-	2	1847	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	SPTY2D1_uc010rdi.1_Missense_Mutation_p.S544F	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	544	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GATATTCTTGGAAGAAATTGT	0.498000														80			15		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022436	51022436	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51022436G>A	uc002pss.3	-	2	671	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	178						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACGCGGTTGAAGGCGTAGG	0.672000														38			7		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65726390	65726390	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65726390G>A	uc001ogk.1	+	6	1388	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Non-coding_Transcript|SART1_uc009yqy.1_5'Flank|SART1_uc010rot.1_5'Flank|SART1_uc001ogl.3_5'Flank	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	453										endometrium(2)|kidney(3)|lung(9)	14						AGTACCAGGCGGAGCTGCAAG	0.622000														59			8		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234879000	234879000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234879000C>T	uc002vvh.3	+	16	2325	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	762						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GATTTCCATTCGGTGCCACAC	0.567000														294			70		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15265034	15265034	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:15265034C>T	uc003bzn.3	+	5	961	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	231					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GAATGTTGACCTGAGAGAACG	0.318000														45			4		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150021	25150021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25150021C>T	uc003abd.1	-	7	1354	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	PIWIL3_uc011ajx.1_Missense_Mutation_p.E204K|PIWIL3_uc010gut.1_Missense_Mutation_p.E313K|PIWIL3_uc011ajy.1_Missense_Mutation_p.E204K	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	313	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTAGTTACTTCCTCTCGGATG	0.428000														60			4		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453521	53453521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53453521G>A	uc002qal.2	-	4	1858	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.H503Y|ZNF816_uc002qam.2_Missense_Mutation_p.H503Y	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGCATGAAGTCTATGA	0.398000														50			5		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823296	53823296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53823296G>A	uc001scx.2	+	7	1107	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	AMHR2_uc009zmy.2_Missense_Mutation_p.E343K|AMHR2_uc021qyg.1_Missense_Mutation_p.E343K	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	343	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTCATTCGGGAAGATGGATC	0.562000														37			4		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336235	127336235	+	Silent	SNP	C	T	T	rs141735401		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127336235C>T	uc003ejp.3	+	10	1944	c.1887C>T	c.(1885-1887)gcC>gcT	p.A629A	MCM2_uc011bkm.2_Silent_p.A499A|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.A582A	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	629	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCATTGCTGCCGCCAACCCCA	0.642000														15			3		0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52876860	52876861	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52876860_52876861CC>TA	uc003dgc.4	-	6	865_866	c.734_735GG>TA	c.(733-735)cgg>cTA	p.R245L	TMEM110-MUSTN1_uc003dgb.4_5'UTR|TMEM110-MUSTN1_uc003dgd.3_Missense_Mutation_p.R245L	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		ATGCGGCCCTCCGGTAGCGGAC	0.589000														43			5		0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152230082	152230082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152230082C>T	uc002txk.3	+	4	718	c.643C>T	c.(643-645)Cca>Tca	p.P215S	FW340097_uc021vqy.1_Intron	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	215	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGATGAGCTTCCAGATGACAT	0.338000														67			5		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98375486	98375486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98375486G>A	uc002syh.4	-	39	5466	c.5237C>T	c.(5236-5238)tCg>tTg	p.S1746L	TMEM131_uc002syg.3_Missense_Mutation_p.S126L	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1746	Ser-rich.					integral to membrane		p.S1633L(1)		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						CTGATTGCACGATCGAGATAA	0.483000														81			10		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719082	155719082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:155719082C>T	uc003ioo.3	+	2	444	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBM46_uc011cim.1_Nonsense_Mutation_p.R91*|RBM46_uc003iop.1_Nonsense_Mutation_p.R91*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	91	RRM 1.						RNA binding|nucleotide binding	p.R91Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATATGAATTTCGACTTATGAT	0.343000														30			4		0	0	1	0	0
MORN4	118812	broad.mit.edu	37	10	99377008	99377008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99377008G>A	uc001koc.4	-	1	313	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	PI4K2A_uc010qoy.1_Intron|MORN4_uc001kob.4_Missense_Mutation_p.L47F|MORN4_uc001kod.4_3'UTR|MORN4_uc001koe.3_Missense_Mutation_p.L47F|AX746617_uc001kof.1_5'Flank	NM_178832	NP_849154	Q8NDC4	MORN4_HUMAN	Homo sapiens MORN repeat containing 4 (MORN4), transcript variant 1, mRNA.	47										large_intestine(1)|lung(1)|stomach(2)	4						CCATTAAAGAGCCCATTCTCA	0.463000														179			6		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343409	248343409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248343409G>A	uc010pzf.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M40I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCTTCATGGGAAACTCTGTC	0.517000														109			13		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64092741	64092741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64092741G>A	uc002jfl.3	-	6	871	c.652C>T	c.(652-654)Cct>Tct	p.P218S	CEP112_uc002jfm.3_Missense_Mutation_p.P218S|CEP112_uc010dep.2_Intron	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	218						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AGGTATCGAGGATTTTCTATC	0.279000														8			3		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52980754	52980754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52980754C>T	uc001sar.2	-	7	1407	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	KRT72_uc001saq.2_Missense_Mutation_p.E441K|KRT72_uc010sns.1_Missense_Mutation_p.E399K|KRT72_uc010snt.1_Missense_Mutation_p.E253K	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	441	Tail.					keratin filament	structural molecule activity	p.G440G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTTGGATATTCGCCAGACATC	0.453000														34			8		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43895433	43895433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43895433C>T	uc001cjk.2	+	27	4139	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1409						peroxisome				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						CCTGGCATTCCAGACCCTGGG	0.552000														74			5		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41304053	41304053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:41304053C>T	uc001cgh.2	+	13	2028	c.1946C>T	c.(1945-1947)tCg>tTg	p.S649L	KCNQ4_uc001cgi.2_Missense_Mutation_p.S595L	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	649	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCTGGCACCTCGGCCAGCCTG	0.667000														149			16		0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45874579	45874579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:45874579G>A	uc003cox.1	-	4	557	c.419C>T	c.(418-420)cCa>cTa	p.P140L	LZTFL1_uc003coy.1_Missense_Mutation_p.P123L|LZTFL1_uc011bak.1_Non-coding_Transcript	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	140										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTCATTAAGTGGAGCAAGTTT	0.373000														72			4		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56223854	56223854	+	Silent	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56223854T>A	uc002qly.3	-	6	2632	c.2604A>T	c.(2602-2604)atA>atT	p.I868I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	868						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAGTGTCTCCTATTTCATTAT	0.438000														36			4		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110020512	110020512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110020512G>A	uc001dxp.3	+	4	895	c.529G>A	c.(529-531)Gat>Aat	p.D177N	SYPL2_uc001dxo.2_Missense_Mutation_p.D177N|SYPL2_uc010ovk.2_Intron|SYPL2_uc001dxq.2_Missense_Mutation_p.D85N	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	177	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_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;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGCCTGACCGATGTCAAGGG	0.607000														616			65		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1577738	1577738	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1577738G>A	uc002fte.3	-	20	3411	c.3297C>T	c.(3295-3297)ttC>ttT	p.F1099F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1099						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCCCTCACCTGAAAAAAATAT	0.478000														97			13		0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41450608	41450608	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:41450608C>T	uc001cgk.4	+	2	790	c.282C>T	c.(280-282)taC>taT	p.Y94Y	CTPS1_uc010ojo.2_Intron|CTPS1_uc010ojp.1_Silent_p.Y101Y|CTPS1_uc001cgl.4_Silent_p.Y94Y	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	94					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GAAAGATATACCAGTATGTCA	0.423000														92			14		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643881	39643881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39643881C>T	uc002hwt.3	-	3	808	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	270	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACCAGGGCCTCGTACTGGCAT	0.602000														86			8		0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197670688	197670688	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:197670688G>A	uc003fyo.3	-	2	389	c.243C>T	c.(241-243)atC>atT	p.I81I	IQCG_uc003fyp.3_Silent_p.I81I|IQCG_uc003fyq.4_Silent_p.I81I	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	81								p.I81V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAACGGGCATGATGTAGTTCA	0.463000														87			8		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15835522	15835522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15835522G>A	uc002ddx.3	-	22	2785	c.2678C>T	c.(2677-2679)aCc>aTc	p.T893I	MYH11_uc002ddv.3_Missense_Mutation_p.T893I|MYH11_uc002ddw.3_Missense_Mutation_p.T886I|MYH11_uc002ddy.3_Missense_Mutation_p.T886I|MYH11_uc010bvg.3_Missense_Mutation_p.T718I	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	886					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCTCCTCGGTCAGCTGCAC	0.637000			T	CBFB	AML									88			8		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171240260	171240260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:171240260C>T	uc002ufy.3	+	11	1369	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	MYO3B_uc002ufv.3_Missense_Mutation_p.P396L|MYO3B_uc010fqb.1_Missense_Mutation_p.P409L|MYO3B_uc002ufz.3_Missense_Mutation_p.P409L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	409	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCCTCCAATCCCCCCCACATA	0.463000														15			4		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754262	32754262	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32754262G>A	uc003amj.3	+	0	409	c.204G>A	c.(202-204)caG>caA	p.Q68Q	RFPL3_uc010gwn.3_Silent_p.Q39Q	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	68							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATTCGCTGCAGAAGGAGCCCC	0.537000														55			16		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11188075	11188075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11188075G>A	uc001asd.3	-	42	6140	c.6019C>T	c.(6019-6021)Cag>Tag	p.Q2007*	MTOR_uc001asc.3_Nonsense_Mutation_p.Q212*	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2007					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	p.V2006L(1)|p.V2006F(1)		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						ATGGCCTGCTGGACCAGGGTG	0.557000														111			47		0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995868	32995868	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32995868C>T	uc003cfg.1	+	1	1122	c.954C>T	c.(952-954)ctC>ctT	p.L318L	CCR4_uc021wuw.1_Silent_p.L318L	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	318					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCCTACAGCTCTTCAAAACCT	0.493000														61			5		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88466428	88466429	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88466428_88466429CC>TT	uc001kdv.3	+	6	1060_1061	c.1037_1038CC>TT	c.(1036-1038)gcc>gTT	p.A346V	LDB3_uc010qml.1_Intron|LDB3_uc010qmm.2_Intron|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Intron	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	346						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACTGCCATCGCCTCCGCCTCCA	0.688000														38			6		0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45253068	45253068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45253068G>A	uc001cmm.3	-	1	272	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	75						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					AAGGGAATGAGGTCTGCTGAG	0.572000														130			27		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995237	36995237	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36995237G>A	uc010jwp.1	+	14	1809	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	FGD2_uc003ong.2_Silent_p.L268L|FGD2_uc011dtv.1_Silent_p.L174L|FGD2_uc003onj.1_Silent_p.L123L	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	546	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCAGAGCCTGATGTGCAGCT	0.622000														109			7		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187819	42187819	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42187819G>A	uc002ori.1	-	2	605	c.603C>T	c.(601-603)ctC>ctT	p.L201L	CEACAM7_uc010ehx.2_Silent_p.L201L|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	201	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane		p.L201L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGAGTAGAACGAGGGTCCTGT	0.537000														87			5		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523341	100523341	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:100523341A>C	uc003yiv.3	+	28	4420	c.4309A>C	c.(4309-4311)Aaa>Caa	p.K1437Q	VPS13B_uc003yiw.3_Missense_Mutation_p.K1412Q|VPS13B_uc003yix.1_Missense_Mutation_p.K907Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1437					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GACAACTACAAAACTTCTAGA	0.333000														28			3		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800783	185800783	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:185800783G>A	uc002uph.3	+	3	1254	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	220						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						CATTTCCAAAGAAAGCGTCCG	0.423000														18			4		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590839	140590839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140590839C>T	uc003liz.3	+	0	2549	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PCDHB12_uc011dak.2_Missense_Mutation_p.P450L|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	787					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P787L(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAAATCCCCCATTTCAG	0.373000														30			6		0	0	1	0	0
C1orf226	400793	broad.mit.edu	37	1	162353002	162353002	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:162353002G>A	uc010pkt.1	+	2	485	c.477G>A	c.(475-477)ctG>ctA	p.L159L	C1orf226_uc001gby.2_Silent_p.L116L	NM_001135240	NP_001128712	A1L170	CA226_HUMAN	Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA.	116										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TTCCTCGGCTGGATCCTCCAC	0.517000														35			6		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428187	10428187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10428187G>A	uc010coi.3	-	33	4986	c.4858C>T	c.(4858-4860)Ctc>Ttc	p.L1620F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.L1620F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1620					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1619M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTTCTTGAGCCTAATGGCA	0.502000														71			8		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237081	42237081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42237081C>T	uc003ose.2	-	4	811	c.248G>A	c.(247-249)gGa>gAa	p.G83E	TRERF1_uc011duq.1_Missense_Mutation_p.G83E|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.G83E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	83					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCCACCCTCCCTGCCTCGA	0.597000														90			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056230	9056230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9056230C>T	uc002mkp.3	-	2	31420	c.31216G>A	c.(31216-31218)Gag>Aag	p.E10406K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10408	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						GTTCCCAGCTCAACGCTCTCT	0.483000														60			8		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897495	5897495	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5897495C>T	uc002wmg.3	+	2	426	c.120C>T	c.(118-120)gtC>gtT	p.V40V	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	40						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCATTGAGGTCCTCTCAAATG	0.562000														68			5		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621189	8621189	+	Missense_Mutation	SNP	G	A	A	rs151079768	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:8621189G>A	uc003glm.3	+	10	1978	c.1804G>A	c.(1804-1806)Gac>Aac	p.D602N	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.D591N|CPZ_uc003gln.3_Missense_Mutation_p.D465N	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	602					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCCCCACGACCCACTGGG	0.677000														49			8		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922367	43922367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43922367G>A	uc002owk.3	+	8	1183	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	TEX101_uc010xwo.2_Missense_Mutation_p.G190S	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	190						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				AGCCATGATTGGCTGCAGGCT	0.502000														73			10		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138967807	138967807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138967807C>T	uc011kqr.2	+	14	2156	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	719										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACTCCAACATCCCTGGTGGCT	0.443000														22			4		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988171	61988171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61988171G>A	uc002jda.1	-	1	186	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	CSHL1_uc002jcz.1_Nonsense_Mutation_p.Q42*|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_Nonsense_Mutation_p.Q3*	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	42						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CGATGGGCTTGGAGCATAGCC	0.572000														139			8		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523854	4523854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4523854C>T	uc002mas.3	-	7	1131	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	360						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCCAGCAGCTCGTCCACGCAG	0.751000														21			4		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079070	67079070	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:67079070C>T	uc002jhw.1	-	35	4735	c.4560G>A	c.(4558-4560)gtG>gtA	p.V1520V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1520					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGACCAAAGTCACTTGAGACG	0.448000														163			8		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266794	48266794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48266794G>A	uc002iqm.3	-	38	2899	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	925	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	p.P924L(2)	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)	GGGGGACCAGGGGGACCAACT	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							77			10		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36871143	36871143	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36871143C>T	uc003cgj.3	-	21	8837	c.8589G>A	c.(8587-8589)gcG>gcA	p.A2863A		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2863					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCGAGTCATCGCCTCCTCCG	0.488000														44			8		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333466	70333466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70333466G>A	uc001oqc.3	-	20	2846	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	SHANK2_uc010rqn.2_Missense_Mutation_p.R388C|SHANK2_uc001opz.3_Missense_Mutation_p.R383C|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.	599					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)			CTCTTGTTGCGGAAGTTGGCT	0.597000														68			9		0	0	1	0	0
PAEP	5047	broad.mit.edu	37	9	138457276	138457276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138457276G>A	uc004cge.1	+	4	486	c.442G>A	c.(442-444)Gat>Aat	p.D148N	PAEP_uc010nba.1_Missense_Mutation_p.D111N|PAEP_uc004cgd.1_Missense_Mutation_p.D148N|PAEP_uc011mdp.1_Missense_Mutation_p.D126N|PAEP_uc004cgg.1_Missense_Mutation_p.D148N|PAEP_uc004cgf.1_Missense_Mutation_p.D148N	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	148					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGTGGAGGACGATGAGATCAT	0.602000														35			5		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231174	42231174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42231174C>T	uc002orl.3	+	8	2168	c.2047C>T	c.(2047-2049)Ctc>Ttc	p.L683F	CEACAM5_uc002orj.1_Missense_Mutation_p.L682F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	683						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCTCCTGGTCTCTCAGCTGG	0.498000														399			24		0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99226606	99226606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99226606C>T	uc001kns.4	-	14	1575	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	MMS19_uc009xvs.3_Missense_Mutation_p.M35I|MMS19_uc009xvt.3_Missense_Mutation_p.M194I|MMS19_uc001knr.3_Missense_Mutation_p.M292I|MMS19_uc010qox.2_Missense_Mutation_p.M428I|MMS19_uc001knt.3_Missense_Mutation_p.M450I|MMS19_uc001knu.1_Non-coding_Transcript	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae) (MMS19), mRNA.	450					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	MMXD complex|cytoplasm|holo TFIIH complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGTTAGAGCCATGAATACCA	0.522000								Direct reversal of damage						78			5		0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154709789	154709789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:154709789C>T	uc003inv.1	-	0	440	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	67	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TTCATGGTCTCGTGGCCCAGC	0.617000														124			14		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886360	119886360	+	Missense_Mutation	SNP	C	T	T	rs150001619		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119886360C>T	uc011bjf.2	-	8	2344	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q	GPR156_uc011bjg.2_Missense_Mutation_p.R651Q	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	655						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R655*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGAAGGTCTTCGTACTCTGGA	0.572000														65			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61946494	61946494	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:61946494C>T	uc001jky.3	-	16	2402	c.2064G>A	c.(2062-2064)gcG>gcA	p.A688A	ANK3_uc010qih.2_Silent_p.A671A|ANK3_uc001jkz.4_Silent_p.A682A|ANK3_uc001jlb.1_Silent_p.A217A|ANK3_uc001jlc.1_Silent_p.A349A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	688					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.A688V(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						GGTTCACATTCGCATTTCTAC	0.507000														20			4		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123587262	123587262	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123587262G>A	uc010nqy.3	-	22	4093	c.4029C>T	c.(4027-4029)atC>atT	p.I1343I	ODZ1_uc011muj.2_Silent_p.I1342I|ODZ1_uc004euj.3_Silent_p.I1336I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1336					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTACAGTTGTGATCACAGCAT	0.428000														38			4		0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56535370	56535370	+	Missense_Mutation	SNP	G	A	A	rs143607562		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56535370G>A	uc002ejd.2	-	9	1354	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	374					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.R374Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATTATGCCCCGATGCCCATCA	0.498000									Bardet-Biedl syndrome					74			9		0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376322	52376322	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52376322G>A	uc010yde.2	-	6	1312	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.F248F|ZNF577_uc002pxv.3_Silent_p.F300F|ZNF577_uc002pxw.3_Silent_p.F241F	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACTTAAAATAGAAGGTTCTTC	0.433000														23			5		0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69458123	69458123	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:69458123C>T	uc004dxy.3	+	4	563	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	174					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGGCAACCTCGTGGGCATTG	0.572000														31			5		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512096	169512096	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169512096C>T	uc001ggg.1	-	12	2377	c.2232G>A	c.(2230-2232)ttG>ttA	p.L744L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	744	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTCCTGATTCAATGATGAGT	0.393000														31			5		0	0	1	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569638	161569639	+	RNA	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161569638_161569639GG>AA	uc021pdi.1	+	6		c.1116_1117GG>AA				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTTGCTGAGTGGATGACAAAAA	0.391000														48			5		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50779269	50779269	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50779269C>T	uc010enu.1	+	27	3536	c.3489C>T	c.(3487-3489)gcC>gcT	p.A1163A	MYH14_uc002prq.1_Silent_p.A1130A|MYH14_uc002prr.1_Silent_p.A1122A|MYH14_uc010ycb.2_5'Flank	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1122					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGGTGGGGCCCGGGCCCAGC	0.652000														25			4		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527617	65527617	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:65527617G>A	uc003xvj.2	-	3	1227	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	341					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)				GTTCTCTGGTGAGGTGGATGG	0.448000														14			5		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29693828	29693828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29693828C>T	uc003aet.3	+	12	1634	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	EWSR1_uc003aev.3_Nonsense_Mutation_p.Q441*|EWSR1_uc003aex.3_Nonsense_Mutation_p.Q435*|EWSR1_uc003aew.3_Nonsense_Mutation_p.Q380*|EWSR1_uc003aey.3_Nonsense_Mutation_p.Q231*|EWSR1_uc003aez.3_Nonsense_Mutation_p.Q97*	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	436	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding	p.Q436*(2)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAAGATTTTCAAGGGAGCAA	0.512000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									81			13		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64678345	64678345	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64678345G>A	uc001obx.3	-	10	1663	c.1548C>T	c.(1546-1548)caC>caT	p.H516H		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	516							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGCCCGAAGTGCACTTCCA	0.677000														12			4		0	0	1	0	0
TMEM81	388730	broad.mit.edu	37	1	205052974	205052974	+	Missense_Mutation	SNP	G	A	A	rs147380601		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205052974G>A	uc001hbt.3	-	0	615	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	159	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACATCACAGCGATATGTCCCA	0.448000														43			18		0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822505	171822505	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:171822505C>T	uc002ugk.3	+	9	2039	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	GORASP2_uc002ugj.3_Silent_p.S340S|GORASP2_uc010zdl.2_Silent_p.S420S|GORASP2_uc010zdm.2_Silent_p.S364S|GORASP2_uc002ugl.3_Silent_p.S340S|GORASP2_uc002ugm.3_Silent_p.S190S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	408						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ACGCTGCCTCCTCACTCACTG	0.632000														41			7		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89616112	89616112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89616112C>T	uc001dna.2	-	5	911	c.772G>A	c.(772-774)Gat>Aat	p.D258N	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	258						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AAATTACTATCCAGTTGGTCT	0.408000														18			3		0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166232670	166232670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:166232670C>T	uc003irb.3	+	10	1551	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V	KLHL2_uc011cjm.2_Missense_Mutation_p.A435V|KLHL2_uc003irc.3_Missense_Mutation_p.A343V|KLHL2_uc010ira.3_Missense_Mutation_p.A84V	NM_007246	NP_001154994	O95198	KLHL2_HUMAN	Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA.	431					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTTCATGTAGCTCCCATGAAT	0.403000														76			9		0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675509	102675509	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102675509C>T	uc010txu.2	+	3	1167	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	WDR20_uc001ylf.3_Silent_p.F346F|WDR20_uc001ykz.3_Silent_p.F334F|WDR20_uc001yky.2_Silent_p.F77F|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Silent_p.F273F|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Silent_p.F273F|WDR20_uc001yld.3_Silent_p.F334F	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	334										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ATGAGGACTTCCAAGACCTTC	0.502000														50			8		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301609	11301609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:11301609G>A	uc010hdr.3	+	1	1228	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	HRH1_uc010hds.3_Missense_Mutation_p.E296K|HRH1_uc010hdt.3_Missense_Mutation_p.E296K|HRH1_uc003bwb.4_Missense_Mutation_p.E296K|HRH1_uc021wtb.1_Missense_Mutation_p.E296K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	296					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGATGATAGAGAAGTAGACAA	0.512000														73			4		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909176	24909176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:24909176G>A	uc001isb.2	-	8	2135	c.1648C>T	c.(1648-1650)Cat>Tat	p.H550Y	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.H550Y|ARHGAP21_uc010qdc.1_Missense_Mutation_p.H385Y|ARHGAP21_uc001isc.1_Missense_Mutation_p.H540Y	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	549					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding	p.H549D(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AAAGATTTATGAATTTCTTGC	0.418000														22			5		0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163235239	163235239	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:163235239C>T	uc003qua.3	+	2	441	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PACRG_uc003qub.3_Nonsense_Mutation_p.R73*|PACRG_uc003quc.3_Nonsense_Mutation_p.R73*	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	73								p.R73Q(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CACAGCATTTCGAAAATTCTA	0.468000														55			9		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121882	38121882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38121882C>T	uc003atr.3	+	6	3590	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	TRIOBP_uc003atu.3_Nonsense_Mutation_p.Q935*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.Q1107*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.Q935*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1107					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)					CGAGCCCCTTCAGCTCCCTGC	0.642000														131			9		0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39341345	39341345	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39341345C>T	uc021olr.1	-	0	426	c.426G>A	c.(424-426)agG>agA	p.R142R	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	142					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TATTTAGTTTCCTTTTCTCCA	0.438000														90			25		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182870195	182870195	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:182870195G>A	uc003flh.4	-	2	1080	c.856C>T	c.(856-858)Cag>Tag	p.Q286*		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	286					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AATCCGCCCTGAAAATTCAAC	0.502000														150			12		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989592	53989592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:53989592G>A	uc011dxa.2	+	2	607	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	MLIP_uc003pcf.2_Missense_Mutation_p.G181R|MLIP_uc003pcg.4_Missense_Mutation_p.G181R|MLIP_uc003pch.4_Missense_Mutation_p.G119R|MLIP_uc011dwz.1_Missense_Mutation_p.G140R	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	181						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAAAACACAGGGGACTGATCT	0.552000														27			3		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026844	36026844	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36026844C>T	uc001bza.3	+	3	1219	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	NCDN_uc001bzb.3_Silent_p.L364L|NCDN_uc001bzc.3_Silent_p.L347L	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	364					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTGCAGCTCGTGAGCGTCA	0.597000														55			4		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659764	121659764	+	Missense_Mutation	SNP	G	T	T	rs150691938		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121659764G>T	uc003eep.2	+	21	2253	c.2100G>T	c.(2098-2100)aaG>aaT	p.K700N	SLC15A2_uc011bjn.1_Missense_Mutation_p.K669N	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	700					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCCTGTAAAGACAGAGGATA	0.478000														47			8		5.18039e-06	5.24305e-06	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133142181	133142181	+	Silent	SNP	C	T	T	rs142082768	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133142181C>T	uc003ytj.3	-	14	2172	c.1947G>A	c.(1945-1947)cgG>cgA	p.R649R	KCNQ3_uc003yti.3_Silent_p.R529R|KCNQ3_uc010mdt.3_Silent_p.R637R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	649					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R649L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCACCTGCAACCGTTCCATGT	0.498000														70			10		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203680017	203680017	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203680017C>T	uc001gzw.3	+	11	2709	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	ATP2B4_uc001gzv.3_Silent_p.I604I|ATP2B4_uc009xaq.3_Silent_p.I604I	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	604					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.R603Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTAATCGAATCCTGGACCGGA	0.498000														10			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556384	48556384	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48556384C>T	uc003toq.2	+	51	13728	c.13704C>T	c.(13702-13704)ttC>ttT	p.F4568F	ABCA13_uc010kys.1_Silent_p.F1643F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.F298F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4568					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACGTGGCTTTCATTTCCTATG	0.408000														40			4		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717903	45717903	+	Silent	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45717903T>G	uc002xsm.3	+	7	1061	c.687T>G	c.(685-687)ccT>ccG	p.P229P	EYA2_uc010ghp.3_Silent_p.P229P|EYA2_uc002xsq.3_Silent_p.P229P	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	229					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACAATGGACCTTCCACACCAG	0.582000														83			6		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115891597	115891597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:115891597C>T	uc003ibu.3	-	3	1889	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	404	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTGCAAATTCCTTGTTGAGA	0.408000														11			3		0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902253	16902253	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:16902253C>T	uc003sts.3	-	3	280	c.207G>A	c.(205-207)gaG>gaA	p.E69E		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	69						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ATTGACAATCCTCCAGGTGAT	0.294000														39			12		0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40349011	40349011	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40349011G>A	uc021olz.1	-	0	167	c.153C>T	c.(151-153)atC>atT	p.I51I	TRIT1_uc001ceq.3_5'UTR|TRIT1_uc001cek.3_5'UTR|TRIT1_uc009vvx.3_Non-coding_Transcript|TRIT1_uc001cel.3_Non-coding_Transcript|TRIT1_uc001cem.3_Silent_p.I51I|TRIT1_uc001cen.3_5'UTR|TRIT1_uc001ceo.3_5'UTR|TRIT1_uc001cep.3_5'UTR	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	51					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCGCTGACGATCTCACCGC	0.667000														13			3		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17362445	17362445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17362445C>T	uc002nfs.1	-	11	1981	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	USHBP1_uc002nfr.1_Missense_Mutation_p.R249Q|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R559Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	623							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCGTCTGGCTCGCCCCTTCTG	0.612000														117			17		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214972961	214972961	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:214972961C>T	uc002veq.3	+	13	1661	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	SPAG16_uc010fuz.2_Silent_p.I374I|SPAG16_uc002ver.3_Silent_p.I469I|SPAG16_uc010zjk.2_Silent_p.I429I	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	523					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCATTCTATCAATGATGCCA	0.323000														13			3		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42860341	42860341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42860341C>T	uc010gor.3	-	4	597	c.536G>A	c.(535-537)gGg>gAg	p.G179E	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G142E|TMPRSS2_uc010gos.1_Missense_Mutation_p.G142E	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	142	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CTCGTCCTCCCCGCCGGGGCA	0.612000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									39			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681655	100681655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100681655C>T	uc003uxp.1	+	2	7011	c.6958C>T	c.(6958-6960)Cct>Tct	p.P2320S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2320	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2320H(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCACCTCCTCCCACTGC	0.502000														134			37		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159340	18159340	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18159340C>T	uc021qek.1	+	0	591	c.591C>T	c.(589-591)gtC>gtT	p.V197V	MRGPRX3_uc001mnu.3_Silent_p.V197V	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	197						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCAGCCTGGTCCTGCTGGTCA	0.522000														66			12		0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34340846	34340846	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34340846G>A	uc002hkt.1	-	2	260	c.189C>T	c.(187-189)atC>atT	p.I63I	CCL23_uc002hks.1_Silent_p.I80I	NM_145898	NP_665905	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA.	63					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	p.A62V(1)		large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GTGAACACGGGATGCTTCGTG	0.517000														25			7		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73736438	73736438	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73736438G>A	uc002jpg.3	+	21	2634	c.2447_splice	c.e21-1	p.V816_splice	ITGB4_uc002jph.3_Splice_Site_p.V816_splice|ITGB4_uc010dgo.3_Splice_Site_p.V816_splice|ITGB4_uc002jpi.4_Splice_Site_p.V816_splice|ITGB4_uc010dgp.1_Splice_Site_p.V816_splice|ITGB4_uc002jpj.3_Splice_Site_p.V816_splice	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	816					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTTCCTTAGTGCCCTACGG	0.647000														72			7		0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49833768	49833768	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:49833768G>A	uc003xqp.3	-	0	232	c.57C>T	c.(55-57)taC>taT	p.Y19Y		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	19					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCAGTTCGCTGTAGTTTGGCT	0.483000														118			9		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52552738	52552738	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52552738G>A	uc003dej.3	+	48	4962	c.4888_splice	c.e48-1	p.D1630_splice	STAB1_uc003dek.1_5'Flank|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1630	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTCTGCTCCAGGATGAGCTGG	0.701000														19			4		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15811116	15811116	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15811116C>T	uc002ddx.3	-	38	5513	c.5406G>A	c.(5404-5406)aaG>aaA	p.K1802K	MYH11_uc002ddv.3_Silent_p.K1802K|MYH11_uc002ddw.3_Silent_p.K1795K|MYH11_uc002ddy.3_Silent_p.K1795K|MYH11_uc010bvg.3_Silent_p.K1627K|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Silent_p.K501K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1795					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCGGAGCTCCTTGTTCTGCC	0.647000			T	CBFB	AML									113			9		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901937	186901937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186901937G>A	uc001gsc.3	+	7	806	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	PLA2G4A_uc010pos.2_Missense_Mutation_p.A141T	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	201	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GGGTTTCCGAGCCATGGTGGG	0.458000														23			3		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932917	44932917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44932917C>T	uc002oze.1	-	5	2473	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	ZNF229_uc010ejk.1_Missense_Mutation_p.G334E|ZNF229_uc010ejl.1_Missense_Mutation_p.G674E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGGCTTTTTTCCCGTGTGGAC	0.507000														42			7		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355319	38355319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38355319C>T	uc003cib.2	+	6	1338	c.1265C>T	c.(1264-1266)cCt>cTt	p.P422L	SLC22A14_uc010hhc.1_Missense_Mutation_p.P422L|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	422						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATGGAGGTGCCTGCCCGGCTG	0.552000														108			10		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26314785	26314785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26314785G>A	uc001bld.4	-	3	458	c.278C>T	c.(277-279)cCc>cTc	p.P93L	PAFAH2_uc001ble.4_Missense_Mutation_p.P93L	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	93					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTTAAAGGGGCCATTCCA	0.522000														139			9		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862716	31862716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31862716C>T	uc003tcm.2	-	13	2014	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	PDE1C_uc003tcn.1_Missense_Mutation_p.R518Q|PDE1C_uc003tco.2_Missense_Mutation_p.R578Q|PDE1C_uc003tcr.3_Missense_Mutation_p.R518Q|PDE1C_uc003tcs.3_Missense_Mutation_p.R518Q	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	518	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)			CCATCTCTCCCGATTGATGTG	0.473000														16			7		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31740776	31740776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31740776G>A	uc011dog.2	-	6	1280	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	VWA7_uc003nxd.2_Missense_Mutation_p.P23S|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	348						extracellular region											GGCTCCATGGGGCTGCCTCTC	0.567000														235			39		0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152760117	152760117	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152760117T>C	uc021ozg.1	+	0	342	c.342T>C	c.(340-342)tcT>tcC	p.S114S	LCE1E_uc001fan.3_Silent_p.S114S	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	114	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCACTCTGGAGGCTGCT	0.597000														148			14		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3557545	3557545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3557545C>T	uc002wim.2	+	13	2344	c.2254C>T	c.(2254-2256)Ccc>Tcc	p.P752S	ATRN_uc002wil.2_Missense_Mutation_p.P752S|ATRN_uc021vzz.1_Missense_Mutation_p.P636S	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	752					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CAAGGATAACCCCATGTACTA	0.502000														45			4		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121641	50121641	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50121641A>T	uc001jhd.3	-	0	640	c.560T>A	c.(559-561)aTa>aAa	p.I187K	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.I187K	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	187						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCTATGAATATTTCCGACTC	0.502000														56			13		0	0	1	0	0
HCST	10870	broad.mit.edu	37	19	36393501	36393501	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36393501C>T	uc002ocl.1	+	0	120	c.6C>T	c.(4-6)atC>atT	p.I2I	NFKBID_uc002oci.1_5'Flank|HCST_uc002ock.1_Silent_p.I2I	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	Homo sapiens hematopoietic cell signal transducer (HCST), transcript variant 1, mRNA.	2					regulation of immune response	integral to membrane|plasma membrane		p.M1I(2)		lung(4)	4	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)			CCACCATGATCCATCTGGGTC	0.572000														241			28		0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35219364	35219364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35219364C>T	uc021wcv.1	+	2	458	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	TGIF2_uc021wcu.1_Missense_Mutation_p.R82W|TGIF2_uc002xfn.3_Missense_Mutation_p.R82W|TGIF2_uc021wcw.1_Missense_Mutation_p.R82W|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	82						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGACATGCTTCGGAAGGATGG	0.532000														233			27		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393422	164393422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164393422C>T	uc003iqp.4	-	0	1626	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	489						cytoplasm	metal ion binding|transketolase activity			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)				TCAAAATTTTCTTGTGGGGTA	0.463000														108			5		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26105947	26105947	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26105947G>A	uc002gzu.3	-	9	1404	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	NOS2_uc010crh.1_Silent_p.V380V|NOS2_uc010wab.1_Silent_p.V380V	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	380					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGAAGTCCCGGACTCCGATCT	0.637000														66			15		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132205	57132205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57132205G>A	uc003dil.3	-	11	1615	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	IL17RD_uc003dik.3_Missense_Mutation_p.S485F|IL17RD_uc010hna.3_Missense_Mutation_p.S365F|IL17RD_uc011bex.1_Missense_Mutation_p.S365F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	509	SEFIR.					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)		GTGCAAGTGGGAACAGAGCTG	0.582000														26			7		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082318	12082318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12082318C>T	uc001ato.2	+	2	674	c.281C>T	c.(280-282)tCt>tTt	p.S94F		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	94										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGGGTGGCCTCTCTCCCACCT	0.692000														86			5		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10791923	10791923	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10791923C>T	uc002mpn.3	+	10	1415	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.A366A|ILF3_uc002mpl.2_Silent_p.A366A|ILF3_uc002mpk.2_Silent_p.A366A|ILF3_uc002mpo.3_Silent_p.A366A|ILF3_uc002mpp.3_Silent_p.A187A	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	366					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCACCTATGCCATTACGCCCA	0.572000														124			25		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17644466	17644466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17644466G>A	uc021uqj.1	+	4	614	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	FAM129C_uc021uqi.1_Missense_Mutation_p.R159Q|FAM129C_uc010xps.2_Missense_Mutation_p.R128Q|FAM129C_uc010xpt.2_Non-coding_Transcript	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	159										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACTTCCCAGCGAGAATATCTC	0.542000														67			20		0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46604915	46604915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46604915C>T	uc002zgy.2	+	8	2029	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.P492S|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.P492S|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Missense_Mutation_p.P532S|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	532	A to I editase.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGGGACGATTCCAGTGCGCTC	0.527000														99			12		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899067	233899067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233899067G>A	uc010zmn.2	+	1	443	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	148							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCGGCCATCGGCCCAGCCTAC	0.667000														29			4		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25909783	25909783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:25909783G>A	uc010crg.3	+	4	666	c.221G>A	c.(220-222)gGg>gAg	p.G74E	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	209					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGGCCCCCAGGGAGCTCCCAG	0.672000														50			4		0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864179	31864180	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31864179_31864180GG>AA	uc002yog.1	-	0	96_97	c.96_97CC>TT	c.(94-99)ttccgc>ttTTgc	p.R33C		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.	33						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CCCAGTCTGCGGAAGCTGCCAC	0.579000														134			12		0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118681008	118681009	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118681008_118681009GG>AA	uc021pzk.1	-	11	1629_1630	c.1131_1132CC>TT	c.(1129-1134)atccgg>atTTgg	p.R378W	KIAA1598_uc009xyw.3_Missense_Mutation_p.R378W|KIAA1598_uc001lcz.4_Missense_Mutation_p.R378W|KIAA1598_uc010qso.2_Missense_Mutation_p.R318W|KIAA1598_uc010qsp.1_Missense_Mutation_p.R378W|KIAA1598_uc010qsq.1_Missense_Mutation_p.R318W|KIAA1598_uc001lcy.4_Missense_Mutation_p.R348W	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	378					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GATCGTTTCCGGATCATGGACA	0.421000														22			6		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241973219	241973219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241973219C>T	uc002wah.1	+	2	569	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	190	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AACTATGAGTCCATCGTGTGG	0.632000														22			3		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438353	204438353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204438353G>A	uc001haw.3	-	2	1057	c.578C>T	c.(577-579)tCt>tTt	p.S193F	PIK3C2B_uc010pqv.2_Missense_Mutation_p.S193F|PIK3C2B_uc001hax.1_Missense_Mutation_p.S193F|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	193	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTCGACCAAAGAGAAAGTGTT	0.592000														200			49		0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871378	100871379	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100871378_100871379GG>AA	uc022cao.1	-	0	232_233	c.232_233CC>TT	c.(232-234)cct>TTt	p.P78F	ARMCX6_uc022cal.1_Intron|ARMCX6_uc022cam.1_Intron|ARMCX6_uc022can.1_Missense_Mutation_p.P78F|ARMCX6_uc004ehx.3_Missense_Mutation_p.P78F|ARMCX6_uc004ehy.3_Missense_Mutation_p.P78F	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	Homo sapiens armadillo repeat containing, X-linked 6 (ARMCX6), transcript variant 1, mRNA.	78						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGGGGCCCCAGGTTCAGTCCAA	0.554000														42			12		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283027	152283027	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152283027C>T	uc001ezu.1	-	2	4371	c.4335G>A	c.(4333-4335)gtG>gtA	p.V1445V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.V1445V(2)		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)			CATGAGAGCTCACCTGGTAGA	0.587000									Ichthyosis					139			16		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54133761	54133761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:54133761G>A	uc002rxp.2	-	25	2973	c.2917C>T	c.(2917-2919)Cgt>Tgt	p.R973C	PSME4_uc010yop.1_Missense_Mutation_p.R859C|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.R348C|PSME4_uc010fbv.1_Missense_Mutation_p.R117C|PSME4_uc021vho.1_Missense_Mutation_p.R958C	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	973					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAGATAAACGAAGAAGATCT	0.363000														47			5		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47280251	47280251	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47280251G>A	uc002pfs.3	-	6	1989	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	SLC1A5_uc010xyh.2_Silent_p.L255L|SLC1A5_uc002pfq.3_Silent_p.L281L|SLC1A5_uc002pfr.3_Silent_p.L229L	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	457					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCCACAGCCAGGATCAAGGAG	0.612000														62			5		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021201	45021201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45021201G>A	uc010ejn.1	-	5	1131	c.1115C>T	c.(1114-1116)aCc>aTc	p.T372I	CEACAM20_uc010ejo.1_Missense_Mutation_p.T372I|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	372	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACACTGCAGGGTCAGGCTGGA	0.567000														225			32		0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54666249	54666249	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54666249C>T	uc001cxa.4	+	0	410	c.333C>T	c.(331-333)tgC>tgT	p.C111C	CYB5RL_uc001cwy.4_5'Flank|CYB5RL_uc009vzo.3_5'Flank|CYB5RL_uc001cwx.4_5'Flank|MRPL37_uc009vzp.3_Missense_Mutation_p.A81V	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	111					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACCACCGTTGCCGCCTTCTCG	0.617000														51			4		0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103371842	103371842	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:103371842C>T	uc001ymc.2	+	11	1781	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	TRAF3_uc001ymd.2_Silent_p.V476V|TRAF3_uc001yme.2_Silent_p.V451V|TRAF3_uc010txy.2_Silent_p.V393V	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	476	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGTTTTTTGTCATCATGCGTG	0.517000														111			11		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53044217	53044217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53044217G>A	uc001sat.3	-	1	739	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	236	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TATCTCTTGAGGCTGTCGATA	0.473000														135			8		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924334	227924334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227924334G>A	uc021vxr.1	-	26	2271	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	COL4A4_uc021vxs.1_Missense_Mutation_p.R724C	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	724	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGTCACCACGAAAACCTATT	0.413000														60			17		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993309	38993309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38993309C>T	uc002oit.3	+	47	7907	c.7777C>T	c.(7777-7779)Cgt>Tgt	p.R2593C	RYR1_uc002oiu.3_Missense_Mutation_p.R2593C|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2593	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	p.R2593H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCTCGGGGTCGTTCGCTCAC	0.652000														36			7		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:114141243C>T	uc004epu.1	+	5	1370	c.642C>T	c.(640-642)ttC>ttT	p.F214F	HTR2C_uc010nqc.1_Silent_p.F214F|HTR2C_uc004epv.1_Missense_Mutation_p.R183C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	214					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000														44			15		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381808	57381808	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57381808C>T	uc001nkp.1	+	7	1448	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SERPING1_uc010rju.1_Silent_p.F367F|SERPING1_uc010rjv.1_Silent_p.F424F|SERPING1_uc001nkr.1_Silent_p.F419F|SERPING1_uc001nks.1_Silent_p.F110F	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	419					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TAGAATTCTTCGATTTTTCTT	0.483000														104			20		0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032374	74032374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74032374G>A	uc002avy.3	-	1	1111	c.766C>T	c.(766-768)Cct>Tct	p.P256S		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	256										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCTGTTCAGGGGCCAAGGTA	0.617000														159			9		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112751959	112751959	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112751959G>A	uc002thk.1	+	8	1550	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	MERTK_uc002thl.1_Silent_p.V300V	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	476	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGATCCAGTGAAAATATTTA	0.537000														84			9		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975919	76975919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:76975919C>T	uc002snr.3	-	3	2090	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	LRRTM4_uc002snq.3_Missense_Mutation_p.E559K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	559						integral to membrane		p.E559K(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCGGGGCTTTCGTCCTGCTCT	0.592000														115			12		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498562	123498562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123498562C>T	uc001uej.1	-	2	305	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	PITPNM2_uc001uek.1_Missense_Mutation_p.E36K|PITPNM2_uc009zxu.1_Missense_Mutation_p.E36K	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	36					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGCTGCCTTCGCCATATGTC	0.582000														82			6		0	0	1	0	0
CDCA5	113130	broad.mit.edu	37	11	64846961	64846961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64846961G>A	uc001ocp.2	-	4	707	c.542C>T	c.(541-543)tCg>tTg	p.S181L		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	181					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						CACCACTGGCGAGACTCCGGA	0.647000														48			4		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119751998	119751998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:119751998C>T	uc002tln.1	+	16	1597	c.1465C>T	c.(1465-1467)Cgg>Tgg	p.R489W	MARCO_uc010yyf.1_Missense_Mutation_p.R411W	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	489	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGTTCAGTGTCGGGGCACGGA	0.552000														51			5		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168199905	168199905	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168199905C>A	uc010jjg.3	-	13	1760	c.1340G>T	c.(1339-1341)tGg>tTg	p.W447L	SLIT3_uc003mab.3_Missense_Mutation_p.W447L|SLIT3_uc010jji.2_Missense_Mutation_p.W447L|SLIT3_uc003mac.1_Missense_Mutation_p.W244L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	447	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCGGCCAGCCACTTCAAGTG	0.622000														58			6		0.0215528	0.0216996	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55501499	55501499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55501499G>A	uc021vbq.1	+	8	2587	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	NLRP2_uc010yfp.2_Missense_Mutation_p.E803K|NLRP2_uc002qij.3_Missense_Mutation_p.E826K|NLRP2_uc010esp.3_Missense_Mutation_p.E804K|NLRP2_uc010esn.3_Missense_Mutation_p.E802K|NLRP2_uc010eso.3_Missense_Mutation_p.E823K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	826					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTTCTGGATGAGGGTGCTAA	0.517000														61			5		0	0	1	0	0
TMED3	23423	broad.mit.edu	37	15	79614347	79614347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:79614347G>A	uc002beu.3	+	2	546	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TMED3_uc010unj.1_Intron|TMED3_uc002bev.3_Non-coding_Transcript	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA.	149					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						GACCATCCATGAGGCTCTGAA	0.552000														52			9		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595072	140595072	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595072C>T	uc003lja.1	+	0	1564	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.602000														89			11		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78472121	78472121	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:78472121C>T	uc002bdh.3	-	10	1460	c.1254_splice	c.e10-1	p.S418_splice	ACSBG1_uc010umx.2_Splice_Site_p.S176_splice|ACSBG1_uc010umw.2_Splice_Site_p.S414_splice	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	418					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGCTTCAGGTCGCTGGTGGGA	0.493000														24			5		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40776925	40776925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40776925G>A	uc001cfh.1	-	10	665	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	COL9A2_uc001cfi.1_Missense_Mutation_p.P4S	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	185	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGCCCTGGGGGACCTTTCATT	0.597000														10			7		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050062	44050062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44050062C>T	uc002rtn.3	-	9	1477	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	ABCG5_uc002rtm.3_Missense_Mutation_p.R51Q|ABCG5_uc002rto.3_Missense_Mutation_p.R275Q|ABCG5_uc002rtp.3_Missense_Mutation_p.R51Q	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	446	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTGACAGCTCGCAGCACGGG	0.582000														83			9		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430437	153430437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153430437C>T	uc001fbv.1	-	2	222	c.151G>A	c.(151-153)Ggc>Agc	p.G51S		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	51	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	p.G51G(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAATTTGTGCCCTTTTTGTCC	0.413000														50			4		0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160252888	160252888	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160252888G>A	uc001fvs.2	-	2	219	c.192C>T	c.(190-192)ttC>ttT	p.F64F	DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Silent_p.F64F|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding	p.E63K(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CTTGGGAAGCGAAGAGGGCAT	0.537000														99			5		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113474224	113474224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:113474224C>T	uc001vsj.4	+	7	773	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ATP11A_uc001vsi.4_Missense_Mutation_p.R229C|ATP11A_uc001vsm.1_Missense_Mutation_p.R105C	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	229					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R229L(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTTCGTGGGTCGCATCAACGT	0.622000														39			7		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31733779	31733779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31733779C>T	uc011dog.2	-	15	2618	c.2380G>A	c.(2380-2382)Gat>Aat	p.D794N		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	794						extracellular region											GCCGCTGAATCTGGGACCTCC	0.627000														299			24		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711484	162711484	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162711484T>G	uc002ubx.4	+	4	605	c.421T>G	c.(421-423)Ttg>Gtg	p.L141V	SLC4A10_uc010fpa.1_Missense_Mutation_p.L153V|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.L152V|SLC4A10_uc002uby.4_Missense_Mutation_p.L141V	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	141					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTATAGGTGGTTGAAGTTTGA	0.328000														11			4		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160873150	160873150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160873150G>A	uc002ube.2	-	8	1738	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	PLA2R1_uc010zcp.2_Missense_Mutation_p.S509F|PLA2R1_uc002ubf.3_Missense_Mutation_p.S509F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	509					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						TTCAGCATCAGAGAGGACATG	0.373000														65			9		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62241774	62241774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:62241774G>A	uc002agz.3	-	41	4718	c.4627C>T	c.(4627-4629)Cat>Tat	p.H1543Y	VPS13C_uc002aha.3_Missense_Mutation_p.H1500Y|VPS13C_uc002ahb.2_Missense_Mutation_p.H1543Y|VPS13C_uc002ahc.2_Missense_Mutation_p.H1500Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1543					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTCCAAATGAAGTACTAAG	0.378000														11			4		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918018	39918018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39918018C>T	uc003axz.3	+	2	747	c.467C>T	c.(466-468)cCc>cTc	p.P156L	ATF4_uc011aol.1_Missense_Mutation_p.P68L|ATF4_uc003aya.3_Missense_Mutation_p.P156L|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	156					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CAGGTTGCCCCCTTCACCTTC	0.527000														111			5		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331226	55331226	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55331226G>A	uc002qhl.4	+	3	477	c.414G>A	c.(412-414)gaG>gaA	p.E138E	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.E138E|KIR3DL2_uc010esf.3_Silent_p.E43E|KIR3DL2_uc021vbo.1_Silent_p.E138E|KIR3DL2_uc002qhk.4_Silent_p.E138E			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	138	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AATCAGGAGAGAGAGTCATCC	0.488000														78			10		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059074	248059074	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248059074C>T	uc010pzb.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	OR2W3_uc001idp.1_Silent_p.F62F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TGTACTTCTTCCTCGCCCACC	0.572000														109			23		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14057532	14057532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:14057532C>T	uc001avi.3	+	2	903	c.47C>T	c.(46-48)gCt>gTt	p.A16V	PRDM2_uc001avg.3_Missense_Mutation_p.A16V|PRDM2_uc001avh.3_Missense_Mutation_p.A16V	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	16						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGACCCTGGCTGAGGTACCC	0.512000														80			6		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1905564	1905564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1905564C>T	uc001aim.1	-	6	730	c.574G>A	c.(574-576)Gag>Aag	p.E192K	KIAA1751_uc009vkz.1_Missense_Mutation_p.E192K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	192										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CCCGTGGCCTCCACCTCCTCA	0.652000														43			5		0	0	1	0	0
MAFA	389692	broad.mit.edu	37	8	144511634	144511634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144511634C>T	uc003yyc.2	-	0	969	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA.	315					insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			gccAGCTTCTCGTATTTCTCC	0.721000										HNSCC(29;0.082)				33			6		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516080	102516080	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102516080C>T	uc001yks.2	+	75	13709	c.13545C>T	c.(13543-13545)ttC>ttT	p.F4515F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4515					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGGCCTGTTCGTGCCTGAGG	0.622000														34			7		0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86203648	86203648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:86203648G>A	uc003pko.4	+	8	2207	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	NT5E_uc010kbr.3_Missense_Mutation_p.G501R	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	551					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GTTTTCCACAGGAAGTCACTG	0.358000														25			4		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699198	79699198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:79699198G>A	uc022bzm.1	+	0	1160	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	FAM46D_uc004edl.1_Missense_Mutation_p.G387D|FAM46D_uc004edm.2_Missense_Mutation_p.G387D	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	387										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GGATCAAATGGTATGAGTTAA	0.373000														1			3		0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124131	65124131	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65124131C>T	uc021qlj.1	+	0	852	c.852C>T	c.(850-852)ctC>ctT	p.L284L	TIGD3_uc001odo.4_Silent_p.L284L	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	284	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ACGTGAAGCTCTTGCCTCTGG	0.662000														70			7		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675130	167675130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167675130G>A	uc010jjd.3	+	26	7159	c.7159G>A	c.(7159-7161)Gag>Aag	p.E2387K	ODZ2_uc003lzr.4_Missense_Mutation_p.E2157K|ODZ2_uc003lzt.4_Missense_Mutation_p.E1760K|ODZ2_uc010jje.3_Missense_Mutation_p.E1651K	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)		GGCCTATGGGGAGATTTATTA	0.527000														125			9		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043854	20043854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20043854C>T	uc002dgu.1	-	1	427	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	89						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGATGAAATCTTCCAACAGG	0.468000														34			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046592	9046592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9046592G>A	uc002mkp.3	-	4	35243	c.35039C>T	c.(35038-35040)cCc>cTc	p.P11680L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11682	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						CTCACTAGAGGGAACAGTCCG	0.517000														50			5		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72674277	72674277	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:72674277C>T	uc011mqk.2	+	2	711	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGAAAATCTCCCAGTTTGAGA	0.453000														8			3		0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129247649	129247649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129247649G>A	uc003emt.3	+	0	168	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	25					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CAGCCCCTTCGAGTACCCACA	0.587000														75			12		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464978	120464978	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:120464978G>A	uc001eik.3	-	27	5391	c.5094C>T	c.(5092-5094)atC>atT	p.I1698I		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1698					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.V1697fs*9(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTTGCCATGATTACCCCCA	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					374			34		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456451	5456451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5456451G>A	uc002mca.4	+	0	1026	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	317						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGATGAGTATGAGGAGGGCGA	0.627000														52			4		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133531428	133531428	+	Missense_Mutation	SNP	C	T	T	rs150198489	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133531428C>T	uc002ttp.3	-	15	5463	c.5089G>A	c.(5089-5091)Gat>Aat	p.D1697N	NCKAP5_uc002ttq.3_Missense_Mutation_p.D378N	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1697							protein binding	p.D1697Y(2)|p.D217Y(1)		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						GCAACTGCATCGTCTTCATCC	0.333000														78			11		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49162535	49162535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49162535G>A	uc003cwe.3	-	19	3087	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	LAMB2_uc003cwf.1_Missense_Mutation_p.P930S	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	930	Laminin EGF-like 9.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCCTTCAGGACAGGGACAG	0.597000														40			4		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678219	73678219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73678219C>T	uc002sje.1	+	7	4673	c.4562C>T	c.(4561-4563)tCc>tTc	p.S1521F	ALMS1_uc002sjf.1_Missense_Mutation_p.S1479F|ALMS1_uc002sjg.3_Missense_Mutation_p.S909F|ALMS1_uc002sjh.1_Missense_Mutation_p.S909F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1521	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCTCTCCTTCCTACTCACAA	0.488000														41			12		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241659326	241659326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241659326G>A	uc010fzk.3	-	45	5133	c.4886C>T	c.(4885-4887)tCc>tTc	p.S1629F	KIF1A_uc002vzy.3_Missense_Mutation_p.S1528F|KIF1A_uc002vzw.3_Missense_Mutation_p.S189F|KIF1A_uc002vzx.3_Missense_Mutation_p.S255F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1528	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCTGGCCGGGAGCAGGGCTG	0.701000														70			17		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752325	247752325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247752325G>A	uc010pyy.2	+	0	664	c.664G>A	c.(664-666)Ggc>Agc	p.G222S		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTCTCCTCTGGCTACATTGC	0.502000														33			4		0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48081078	48081078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48081078C>T	uc003toh.4	+	2	415	c.203C>T	c.(202-204)tCg>tTg	p.S68L	C7orf57_uc003toi.4_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	68										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAACAGATTCGGAATATGTG	0.597000														7			4		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391459	139391459	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139391459G>A	uc004chz.3	-	33	6732	c.6732C>T	c.(6730-6732)atC>atT	p.I2244I		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2244					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.S2163_T2283del(2)|p.K2182fs*61(1)		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)		TCAGGTGCCCGATGCCCAGGT	0.716000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				21			7		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17566267	17566267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17566267C>T	uc001bah.1	+	13	1713	c.1621C>T	c.(1621-1623)Ctt>Ttt	p.L541F	PADI1_uc010oco.1_Missense_Mutation_p.L98F|PADI1_uc010ocp.1_Missense_Mutation_p.L98F|PADI1_uc010ocq.1_Missense_Mutation_p.L12F|PADI1_uc009vpb.1_5'UTR	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	541					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)	GAGAGACAATCTTCATGCACA	0.507000														19			4		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56179743	56179743	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56179743G>A	uc002xyo.3	-	7	1457	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	ZBP1_uc010gjm.3_Silent_p.L391L|ZBP1_uc002xyp.3_Silent_p.L317L	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	392						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCTTGGGGGTGAGCTTCGAGT	0.552000														116			7		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167502	8167502	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:8167502C>T	uc003sro.4	-	13	1466	c.1330_splice	c.e13+1	p.E444_splice	ICA1_uc010ktr.3_Splice_Site_p.E473_splice|ICA1_uc003srm.3_Splice_Site_p.E444_splice|ICA1_uc003srn.4_Splice_Site_p.E370_splice|ICA1_uc003srq.3_Splice_Site_p.E444_splice|ICA1_uc003srr.3_Splice_Site_p.E443_splice|ICA1_uc010kts.3_Splice_Site	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	444					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ACCTTACCTACCTTGTAGCGA	0.423000														134			10		0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196612840	196612841	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:196612840_196612841CC>TT	uc003fwz.4	+	1	1037_1038	c.788_789CC>TT	c.(787-789)gcc>gTT	p.A263V	SENP5_uc011bty.2_Missense_Mutation_p.A263V	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	263					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTAAGAAAAGCCCAGCGAAGCT	0.480000														44			7		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56757090G>A	uc010rjp.2	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423000														20			6		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064421	78064421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:78064421G>A	uc002ffh.4	+	2	358	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CLEC3A_uc021tlr.1_Missense_Mutation_p.E41K	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	93	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGAGGCCAATGAAGACTGCAT	0.468000														45			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90077780	90077780	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:90077780G>A	uc010yts.2	+	22		c.2583G>A								Parts of antibodies, mostly variable regions.																		GGGAACCATGGAAACCCCAGC	0.577000														70			5		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788325	10788325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:10788325C>T	uc002czz.1	-	0	478	c.406G>A	c.(406-408)Ggc>Agc	p.G136S		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	136					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CGGCAGGTGCCCTCCTGCATC	0.627000														112			13		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397658	111397658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:111397658G>A	uc003iab.4	+	0	430	c.88G>A	c.(88-90)Gga>Aga	p.G30R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	30					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)	GGTGGGTGTAGGATTAATAGT	0.557000														155			9		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96578027	96578027	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:96578027A>G	uc001vmt.3	-	20	2371	c.2201_splice	c.e20-1	p.D734_splice		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	734					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTATACTCTCATCTGAAAGTT	0.294000														10			6		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190842	32190842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32190842G>A	uc003obb.3	-	1	234	c.95C>T	c.(94-96)cCa>cTa	p.P32L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P32L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	32	EGF-like 1.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGGGTTCTGGGAAACTCCC	0.607000														163			9		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382720	80382720	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:80382720C>T	uc003kha.2	+	8	1388	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Silent_p.I274I	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	446					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAGAATGATCGTGGAGGGCT	0.507000														53			9		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437752	120437752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:120437752C>T	uc001eij.3	-	0	1396	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	403	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTTTGTTTCCACATCTCTT	0.388000														566			141		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39169877	39169877	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39169877C>T	uc003cjc.2	+	12	1776	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	TTC21A_uc011ayx.1_Silent_p.A485A|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	533							binding	p.P533P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGACCCCGCCTCCGTGGATG	0.547000														49			4		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78938108	78938108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78938108C>T	uc002jyt.1	+	33	4791	c.3986C>T	c.(3985-3987)tCg>tTg	p.S1329L	RPTOR_uc010wug.1_Missense_Mutation_p.S1171L|RPTOR_uc002jyu.1_Missense_Mutation_p.S222L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1329					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						TCCGTGTACTCGGTGGAGAAG	0.652000														83			10		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828379	32828379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32828379G>A	uc003amn.2	-	9	1130	c.1130C>T	c.(1129-1131)aCc>aTc	p.T377I	BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Missense_Mutation_p.T101I	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	377						extracellular region	lipopolysaccharide binding|phospholipid binding										GGAAACGATGGTTTCAACTGT	0.512000														87			6		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514855	233514855	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233514855C>T	uc001hvt.4	+	8	2364	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	KIAA1804_uc001hvu.4_Silent_p.S147S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	701				S -> T (in Ref. 1; CAC84640).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCACAGTCTCCATTGAGATGA	0.527000														45			6		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110293935	110293935	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110293935G>A	uc001dyr.2	-	16	1827	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	EPS8L3_uc001dys.2_Silent_p.V504V|EPS8L3_uc001dyq.2_Silent_p.V535V|EPS8L3_uc009wfm.2_Silent_p.V471V	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	534						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)		GCCAGTCTGTGACCTCTTCAG	0.537000														39			11		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266685	124266685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124266685G>A	uc010saj.2	-	0	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCTGGTGCAGGAAAGCTGGAG	0.473000														32			4		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50247554	50247554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50247554C>T	uc002ppm.3	-	7	1306	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	432							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCCTCTTCGAGAGTTCTG	0.612000														53			5		0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123164887	123164887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123164887C>T	uc004eua.3	+	4	604	c.200C>T	c.(199-201)cCa>cTa	p.P67L	STAG2_uc004etz.4_Missense_Mutation_p.P67L|STAG2_uc004eub.3_Missense_Mutation_p.P67L|STAG2_uc004euc.3_Missense_Mutation_p.P67L|STAG2_uc004eud.3_Missense_Mutation_p.P67L|STAG2_uc004eue.3_Missense_Mutation_p.P67L	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	67					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTCTGGTCCAAACCGAATG	0.418000														30			5		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279701	47279701	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47279701C>T	uc001cqn.4	+	5	825	c.741C>T	c.(739-741)ttC>ttT	p.F247F	CYP4B1_uc009vyl.1_Silent_p.F83F|CYP4B1_uc001cqm.4_Silent_p.F246F|CYP4B1_uc009vym.3_Silent_p.F232F|CYP4B1_uc010omk.2_Silent_p.F83F|CYP4B1_uc010oml.1_Silent_p.F84F	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	246					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCCGCCGCTTCCTGCGGGCCT	0.597000														121			24		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566156	136566156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136566156C>T	uc002tuu.1	-	7	3772	c.3761G>A	c.(3760-3762)cGa>cAa	p.R1254Q		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1254	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAGCAGCCTTCGCGTCCCCCA	0.567000														64			12		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39984583	39984583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:39984583C>T	uc010ggh.3	+	13	1806	c.1715C>T	c.(1714-1716)cCt>cTt	p.P572L	LPIN3_uc002xjx.3_Missense_Mutation_p.P571L|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	571					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCAGACAGCCCTGTGATCCTG	0.587000														68			5		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114473	65114473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65114473G>A	uc002ant.2	-	3	875	c.809C>T	c.(808-810)gCc>gTc	p.A270V	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.A270V|PIF1_uc002anu.3_3'UTR	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	270	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						ACCTGCAAAGGCATGGAGGGT	0.612000														76			6		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535331	90535331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90535331G>A	uc010mqi.3	+	3	538	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	FAM75C1_uc004apq.4_Missense_Mutation_p.R153Q	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCGGATCCTCGAACCAAGCAT	0.592000														132			29		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74082214	74082214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74082214G>A	uc002jqs.3	-	13	1690	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	EXOC7_uc002jqp.2_5'Flank|EXOC7_uc010dgv.2_Intron|EXOC7_uc010wsv.2_Missense_Mutation_p.S453L|EXOC7_uc010wsw.2_Missense_Mutation_p.S504L|EXOC7_uc002jqq.3_Missense_Mutation_p.S481L|EXOC7_uc010wsx.2_Missense_Mutation_p.S473L|EXOC7_uc002jqr.3_Missense_Mutation_p.S450L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	532					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTGGTGGCCGAAGAGCTGGT	0.602000														73			8		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439132	75439132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:75439132C>T	uc010rru.2	+	3	593	c.593C>T	c.(592-594)tCc>tTc	p.S198F	MOGAT2_uc001oww.1_Missense_Mutation_p.S198F|MOGAT2_uc010rrv.2_Missense_Mutation_p.S116F	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	198					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGGCCTGGATCCTTCACGCTG	0.582000														37			4		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231248	2231248	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2231248C>T	uc010bsg.1	-	17	2153	c.2121G>A	c.(2119-2121)caG>caA	p.Q707Q		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	707					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCAGCAGCTCCTGCGAGCTGC	0.726000														17			6		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102566297	102566297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102566297C>T	uc001krk.4	+	6	1346	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	PAX2_uc001krm.4_Missense_Mutation_p.R266W|PAX2_uc001krn.4_Missense_Mutation_p.R243W|PAX2_uc001kro.4_Missense_Mutation_p.R243W|PAX2_uc010qps.2_Missense_Mutation_p.R242W|PAX2_uc001krl.4_Missense_Mutation_p.R243W|PAX2_uc001krp.1_Missense_Mutation_p.R239W	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	266					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCTTTGGATCGGGTCTTTGA	0.542000														243			23		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036848	193036848	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:193036848G>A	uc011bsq.2	-	16	1965	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	655					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAATGACACGGAAGCCTTGCA	0.483000														53			6		0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67067323	67067323	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67067323C>T	uc001okd.2	+	8	1076	c.906C>T	c.(904-906)ttC>ttT	p.F302F	ANKRD13D_uc001okc.2_Silent_p.F215F|ANKRD13D_uc001oke.2_Silent_p.F215F|ANKRD13D_uc001okg.2_5'UTR|ANKRD13D_uc001okh.2_5'UTR|ANKRD13D_uc001oki.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA.	215								p.A302T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCCAGTCCTTCCTGGGGATGG	0.706000														56			11		0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32889265	32889265	+	Nonsense_Mutation	SNP	C	T	T	rs78099169		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32889265C>T	uc003amq.3	+	6	1424	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	FBXO7_uc003amt.3_Nonsense_Mutation_p.R302*|FBXO7_uc003amu.3_Nonsense_Mutation_p.R267*|FBXO7_uc003amv.3_Nonsense_Mutation_p.R80*	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	381					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCGTGATTTTCGAGGTGATTT	0.408000														39			4		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49100166	49100166	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49100166C>T	uc002pjl.3	+	5	897	c.816C>T	c.(814-816)ttC>ttT	p.F272F	SULT2B1_uc002pjm.3_Silent_p.F257F	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCGGGGCCTTCCTCCGGAAAG	0.627000														9			3		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812051	109812051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109812051C>T	uc001dxa.4	+	20	6879	c.6818C>T	c.(6817-6819)cCc>cTc	p.P2273L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2273					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCAGAGTCCCCAAACGCCCG	0.632000														263			65		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100359971	100359971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100359971G>A	uc003uwj.3	+	19	4141	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	ZAN_uc003uwk.3_Missense_Mutation_p.E1326K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'UTR	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1326	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGACCAGGACGAGGACCAGGA	0.542000														31			4		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390871	197390871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390871C>T	uc001gtz.3	+	5	2122	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L	CRB1_uc010poz.2_Missense_Mutation_p.S569L|CRB1_uc009wza.3_Missense_Mutation_p.S526L|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.S638L|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.S119L|CRB1_uc001gub.1_Missense_Mutation_p.S287L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	638	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						TCCACACCTTCGTTTGTAGGC	0.428000														63			4		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854835	67854835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67854835G>A	uc010vka.2	+	2	317	c.241G>A	c.(241-243)Gac>Aac	p.D81N	TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Intron|TSNAXIP1_uc002eug.4_Intron|TSNAXIP1_uc002euh.4_Intron|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Missense_Mutation_p.D27N|TSNAXIP1_uc002euk.3_5'Flank	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTGTTCAGATGACTACCGGAA	0.592000														174			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801552	140801552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140801552C>T	uc003lkq.2	+	0	1016	c.758C>T	c.(757-759)cCa>cTa	p.P253L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.P253L|PCDHGC5_uc003lkp.2_Missense_Mutation_p.P253L	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	252	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)			GTGAGTGTTCCAGAAAACATC	0.488000														119			19		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666899	167666899	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167666899G>A	uc001gem.3	+	5	1225	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	RCSD1_uc010pli.2_Silent_p.K316K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	346										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTGCAGTGAAGGAGACCCCCC	0.572000														20			3		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237687	29237687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:29237687C>T	uc001wqe.3	+	0	1401	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	401	Interaction with KDM5B.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGGACCTACTCCCTCAACCCC	0.672000														22			6		0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195330	3195330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3195330C>T	uc002fvh.1	-	0	547	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGTGGGAGGTCACAGTAGAAG	0.542000														103			7		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468761	64468761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64468761C>T	uc001xgl.3	+	28	3978	c.3748C>T	c.(3748-3750)Cat>Tat	p.H1250Y	SYNE2_uc001xgm.3_Missense_Mutation_p.H1250Y|SYNE2_uc021ruh.1_Missense_Mutation_p.H1250Y	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1250					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGGGATTTCATCTCATTGA	0.413000														49			8		0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78112043	78112043	+	Silent	SNP	G	A	A	rs61756263		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78112043G>A	uc010wuc.2	-	8	838	c.765C>T	c.(763-765)ttC>ttT	p.F255F	EIF4A3_uc002jxs.3_Silent_p.F255F	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	255	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CCACTGCCACGAAAAATTGCT	0.468000														75			14		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36142655	36142655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:36142655G>A	uc003jkb.1	-	2	636	c.221C>T	c.(220-222)cCt>cTt	p.P74L		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	74						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTATTCTCAGGAGGGCTTGA	0.368000														83			12		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241827960	241827960	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241827960T>A	uc002wae.4	-	3	1159	c.1000A>T	c.(1000-1002)Acg>Tcg	p.T334S	C2orf54_uc002wac.3_Missense_Mutation_p.T166S|C2orf54_uc002wad.3_Missense_Mutation_p.T185S	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	334										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCTTCCGCGTGGCCAGGCAA	0.692000														19			3		0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42956258	42956258	+	Silent	SNP	G	A	A	rs150625034		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42956258G>A	uc003bcr.3	+	7	702	c.600G>A	c.(598-600)acG>acA	p.T200T	SERHL2_uc011apn.1_Silent_p.T186T|SERHL2_uc010gyz.3_Silent_p.T136T|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA.	200						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						GAGGAACCACGAAGGTGGCCA	0.522000														113			7		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51751158	51751158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51751158G>A	uc001ryk.2	-	8	1802	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.S526F|GALNT6_uc001ryj.1_Missense_Mutation_p.S91F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	526	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCGTGGCAGGAGTACATGAT	0.592000														39			6		0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194647	27194647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27194647C>T	uc003sys.3	-	1	706	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	HOXA-AS3_uc003syr.2_3'UTR|HOXA-AS3_uc003syp.2_3'UTR|HOXA6_uc003syq.1_5'Flank	NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	192					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GTCGGACCTTCGTCCTTATGC	0.637000														133			15		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438613	114438613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114438613G>A	uc001eeb.3	-	8	1744	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.R352C|AP4B1_uc010owp.2_Missense_Mutation_p.R421C|AP4B1_uc001eed.3_Missense_Mutation_p.R520C|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.R47C	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	520					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		AAGAGGAGGCGATAATAGAAG	0.438000														26			10		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601895	24601895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24601895C>T	uc001wmf.2	+	1	840	c.742C>T	c.(742-744)Cac>Tac	p.H248Y		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	248					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCAGTACACTCACAAGGTGGT	0.612000														83			5		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713957	138713957	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138713957G>A	uc004cgr.4	-	10	2550	c.2550C>T	c.(2548-2550)gcC>gcT	p.A850A	CAMSAP1_uc004cgq.4_Silent_p.A740A|CAMSAP1_uc010nbg.3_Silent_p.A572A	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	850						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGTCAGAGGGGCTGGGCAGC	0.617000														17			4		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711020	20711020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20711020C>T	uc010tld.2	+	0	70	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AGAGTTTATTCTCCTGGGATT	0.418000														25			5		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006897	32006897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32006897G>A	uc003nze.2	+	2	426	c.319G>A	c.(319-321)Gac>Aac	p.D107N	CYP21A2_uc003nzf.2_Missense_Mutation_p.D77N	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	106			L -> R (in AH3; loss of activity).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GAACTACCCGGACCTGTCCTT	0.622000														160			6		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228585	57228585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:57228585C>T	uc010lyk.1	-	1	960	c.322G>A	c.(322-324)Gta>Ata	p.V108I	SDR16C5_uc003xsy.1_Missense_Mutation_p.V108I|SDR16C5_uc010lyl.1_Missense_Mutation_p.V108I	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	108					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TGGTCGGCTACTCTATACACT	0.463000														104			9		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168123337	168123337	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168123337C>T	uc010jjg.3	-	27	3483	c.3063G>A	c.(3061-3063)ggG>ggA	p.G1021G	SLIT3_uc003mab.3_Silent_p.G1014G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1014	EGF-like 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTTGTTGATCCCGTCCACGC	0.532000														68			5		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145012849	145012849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145012849G>A	uc003zaf.1	-	1	705	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	PLEC_uc003zab.1_Missense_Mutation_p.R42C|PLEC_uc003zac.1_Missense_Mutation_p.R46C|PLEC_uc003zad.2_Missense_Mutation_p.R42C|PLEC_uc003zae.1_Missense_Mutation_p.R10C|PLEC_uc003zag.1_Missense_Mutation_p.R20C|PLEC_uc003zah.2_Missense_Mutation_p.R28C|PLEC_uc003zaj.2_Missense_Mutation_p.R69C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	179	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCTGCACACGATCCCGCTCA	0.627000														51			5		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933740	73933740	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73933740C>T	uc003uaq.3	+	6	999	c.606_splice	c.e6-1	p.R202_splice	GTF2IRD1_uc010lbq.3_Splice_Site_p.R234_splice|GTF2IRD1_uc003uap.3_Splice_Site_p.R202_splice|GTF2IRD1_uc003uar.1_Splice_Site_p.R202_splice	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	202						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTACTCAGGCCACTTGAGGA	0.592000														155			36		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892484	205892484	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205892484G>A	uc001hdp.3	-	14	1752	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	SLC26A9_uc001hdo.3_Silent_p.F214F|SLC26A9_uc001hdq.3_Silent_p.F546F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	546	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCTTTTGCCTGAAGATCTCTG	0.552000														109			14		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539475	31539475	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31539475G>A	uc002ecj.3	+	1	100	c.15G>A	c.(13-15)aaG>aaA	p.K5K		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	5					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CTCTTCTTAAGGCCAATAAGG	0.478000														67			7		0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201835969	201835969	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201835969C>T	uc001gwz.3	+	14	1787	c.1737C>T	c.(1735-1737)gtC>gtT	p.V579V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	579					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCTCAGAGGTCCTCAACCTGG	0.522000														110			9		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176823738	176823738	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176823738C>T	uc003mgk.4	+	10	1283	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	393					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TTGCAGACTTCCCTGCCCCCT	0.647000														52			7		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13136080	13136080	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13136080C>T	uc010xmx.2	+	1	350	c.297C>T	c.(295-297)ttC>ttT	p.F99F	NFIX_uc002mwd.3_Silent_p.F91F|NFIX_uc002mwe.3_Silent_p.F83F|NFIX_uc002mwf.3_Silent_p.F94F|NFIX_uc002mwg.2_Silent_p.F90F			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	91					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCGAGGACTTCGTGCTGACCA	0.652000														39			7		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100717320	100717320	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:100717320C>T	uc001thn.3	+	10	1463	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	SCYL2_uc009ztw.1_Silent_p.I298I|SCYL2_uc001thm.1_Silent_p.I471I	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	471					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GTCTAAACATCATTCCAACCT	0.343000														34			4		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058166	81058166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:81058166C>T	uc001kaf.2	+	14	2067	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	ZMIZ1_uc001kag.2_Missense_Mutation_p.P375S	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	499	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCAGCCTCCCAGGCCGGT	0.602000														160			25		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151337	158151337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158151337G>A	uc001frr.3	+	2	653	c.154G>A	c.(154-156)Gag>Aag	p.E52K	CD1D_uc009wsr.1_Missense_Mutation_p.E52K|CD1D_uc009wss.3_Missense_Mutation_p.E52K|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	52					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGGCTGGGGGAGCTGCAGAC	0.652000														210			16		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626639	142626639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142626639G>A	uc003wby.1	-	3	635	c.371C>T	c.(370-372)gCt>gTt	p.A124V	TRPV5_uc003wbz.3_Missense_Mutation_p.A124V	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	124					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.I123I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTCACAACAGCGATGTGCAG	0.627000														73			4		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477456	10477456	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10477456C>T	uc001arc.3	+	9	1089	c.999C>T	c.(997-999)atC>atT	p.I333I	PGD_uc010oak.2_Silent_p.I311I	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	333					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCAAGATCATCTCTTACGCTC	0.507000														208			22		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807446	66807446	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66807446C>T	uc009yrl.3	+	3	623	c.393C>T	c.(391-393)tcC>tcT	p.S131S	SYT12_uc001oju.3_Silent_p.S131S	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	131						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						TCCGGAAGTCCCAGTCGGCCG	0.607000														54			7		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785617	1785617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1785617C>T	uc002ltw.3	-	25	3478	c.3244G>A	c.(3244-3246)Gcc>Acc	p.A1082T	ATP8B3_uc002ltv.3_Missense_Mutation_p.A1045T|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1082					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCGATGGCTTGGACGAAG	0.612000														32			4		0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22360638	22360638	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:22360638G>A	uc002dkn.3	-	3	776	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	156						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ATGCAAAGCTGGGTGCCGGTT	0.537000														98			10		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583684	7583684	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7583684G>A	uc003mxp.1	+	23	6468	c.6189G>A	c.(6187-6189)cgG>cgA	p.R2063R	DSP_uc003mxq.1_Silent_p.R1464R|DSP_uc021yle.1_Silent_p.R1620R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2063	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCCCCATCGGAATGAGAAGC	0.483000														81			7		0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78177434	78177434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:78177434G>A	uc001dht.3	-	21	2844	c.2497C>T	c.(2497-2499)Cgg>Tgg	p.R833W	USP33_uc001dhs.3_Missense_Mutation_p.R554W|USP33_uc001dhu.3_Missense_Mutation_p.R802W|USP33_uc001dhv.3_Missense_Mutation_p.R638W|USP33_uc001dhw.3_Missense_Mutation_p.R825W	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	833	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTTTTACCCGAATAAAAATT	0.318000														21			6		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590174	101590174	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:101590174C>T	uc001kqf.2	+	19	2870	c.2731C>T	c.(2731-2733)Cga>Tga	p.R911*		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	911						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)	CAGCTTTCGTCGAACACTTAG	0.473000														69			5		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602036	10602036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:10602036C>T	uc010rcc.1	-	19	2847	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E813K|MRVI1_uc001miw.2_Missense_Mutation_p.E812K|MRVI1_uc001mix.3_Missense_Mutation_p.E506K|MRVI1_uc001miz.2_Missense_Mutation_p.E730K|MRVI1_uc010rcd.1_Missense_Mutation_p.E615K|MRVI1_uc009ygd.1_Missense_Mutation_p.E506K	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	794					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTCAGTTTCTTCTACCTCT	0.458000														93			9		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001409	149001409	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149001409G>A	uc003lra.1	+	8	1183	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	373	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACTTTGAGCGGGTGGAAGAGA	0.612000														83			8		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006774	8006774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8006774G>A	uc002gka.3	-	13	2322	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	ALOXE3_uc010cnr.3_Missense_Mutation_p.S608F|ALOXE3_uc010vuo.2_Missense_Mutation_p.S740F	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	608					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTGCCTCATGGATGATGGAGC	0.577000														39			9		0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20824111	20824111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20824111C>T	uc001vxc.3	+	10	1089	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L	PARP2_uc001vxb.1_Missense_Mutation_p.P354L|PARP2_uc001vxd.3_Missense_Mutation_p.P341L|PARP2_uc010tle.2_Missense_Mutation_p.P104L	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	354					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CTACAAAGCCCAGAACACCCA	0.403000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						59			4		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53851900	53851900	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:53851900G>A	uc003dgz.3	-	8	2130	c.1689C>T	c.(1687-1689)atC>atT	p.I563I		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	563					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCTTCTCTGCGATCATGATTG	0.587000														61			5		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38516859	38516859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38516859C>T	uc003auy.1	-	11	1785	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PLA2G6_uc003auz.1_Missense_Mutation_p.R496Q|PLA2G6_uc003ava.1_Missense_Mutation_p.R550Q|PLA2G6_uc003avb.2_Missense_Mutation_p.R496Q|PLA2G6_uc010gxk.1_Non-coding_Transcript	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	550					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTGGAGCCCCGGAACACCTC	0.602000														131			7		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552765	41552765	+	Silent	SNP	G	A	A	rs112451551		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41552765G>A	uc003xok.3	-	26	3129	c.3045C>T	c.(3043-3045)tcC>tcT	p.S1015S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.S331S|ANK1_uc003xoi.3_Silent_p.S1015S|ANK1_uc003xoj.3_Silent_p.S1015S|ANK1_uc003xol.3_Silent_p.S1015S|ANK1_uc003xom.3_Silent_p.S1056S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1015	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTTCCACACGGAGCCGTTTT	0.622000														112			19		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29121234	29121234	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29121234G>A	uc003adu.1	-	2	513	c.441C>T	c.(439-441)ttC>ttT	p.F147F	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Silent_p.F147F|CHEK2_uc003adt.1_Silent_p.F190F|CHEK2_uc003adv.1_Silent_p.F147F|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	147	FHA.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TACCTACCCTGAAAATCCGAA	0.373000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						87			4		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139341692	139341692	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139341692G>A	uc004chx.3	-	26	6993	c.6684C>T	c.(6682-6684)ttC>ttT	p.F2228F	SEC16A_uc004chp.3_5'Flank|SEC16A_uc004chq.3_Silent_p.F69F|SEC16A_uc011mea.2_Silent_p.F69F|SEC16A_uc004chr.3_Silent_p.F234F|SEC16A_uc004chs.3_Silent_p.F68F|SEC16A_uc004cht.3_Silent_p.F259F|SEC16A_uc004chu.3_Silent_p.F413F|SEC16A_uc004chv.4_Silent_p.F1618F|SEC16A_uc004chw.3_Silent_p.F2228F|SEC16A_uc010nbn.3_Silent_p.F2228F	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2050					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGTTGGCACGAACAAGTTAG	0.597000														9			5		0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64814356	64814356	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:64814356G>A	uc003jts.3	-	10	968	c.756C>T	c.(754-756)gcC>gcT	p.A252A	CENPK_uc003jtu.3_Silent_p.A252A	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	Homo sapiens centromere protein K (CENPK), mRNA.	252					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GATGTCTCAAGGCAATTCCAT	0.348000														37			5		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039742	248039742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248039742C>T	uc001ido.3	+	5	1460	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	471						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATTGGGCATCCAGGGATCAT	0.463000														50			7		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33700229	33700229	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:33700229G>A	uc003and.4	-	12	2295	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	LARGE_uc011amd.2_Silent_p.L371L|LARGE_uc003ane.4_Silent_p.L572L|LARGE_uc010gwp.3_Silent_p.L520L|LARGE_uc011ame.2_Silent_p.L504L|LARGE_uc011amf.2_Silent_p.L572L	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	572					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GGTACTCATAGAGCCCATACA	0.562000														60			5		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16670820	16670820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:16670820G>A	uc003jft.4	-	38	6166	c.5698C>T	c.(5698-5700)Cgg>Tgg	p.R1900W	MYO10_uc011cnb.2_Missense_Mutation_p.R529W|MYO10_uc011cnc.2_Missense_Mutation_p.R779W|MYO10_uc011cnd.2_Missense_Mutation_p.R1257W|MYO10_uc011cne.2_Missense_Mutation_p.R1257W|MYO10_uc010itx.3_Missense_Mutation_p.R1522W	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1900	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACCTTCTGCCGGACCACGGAT	0.562000														80			10		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106111664	106111664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106111664G>A	uc004emo.3	+	17	2935	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	924						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAAGGAGATGAACTTTCCAA	0.343000														27			7		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877860	200877860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200877860G>A	uc001gvo.3	+	6	874	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	C1orf106_uc010ppm.2_Missense_Mutation_p.E193K	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	278										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TCCTGCAGAGGAATCCCAAGT	0.607000														149			15		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268568	1268568	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1268568G>A	uc001lta.3	+	30	10517	c.10458G>A	c.(10456-10458)gaG>gaA	p.E3486E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3486	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACATCACAGAGCCTTCCACGG	0.672000														82			5		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796870	127796870	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:127796870C>T	uc003qbd.3	-	5	3166	c.2301G>A	c.(2299-2301)cgG>cgA	p.R767R	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	767						integral to membrane		p.R767R(1)									GGTGCGGAGGCCGCGAGTCGT	0.721000														59			5		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173425	51173425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51173425G>A	uc021tif.1	-	1	2739	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	SALL1_uc021tid.1_Missense_Mutation_p.S806F|SALL1_uc021tie.1_Missense_Mutation_p.S903F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	903					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M806I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCCACTGAGGATGAATCATT	0.562000														45			4		0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36552306	36552306	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36552306C>T	uc001bzr.3	+	5	616	c.489_splice	c.e5-1	p.C163_splice	TEKT2_uc001bzs.3_Splice_Site_p.C69_splice|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	163					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCCCCAGCCTCTTGCAGGA	0.582000														79			5		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236906244	236906244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236906244G>A	uc001hyf.2	+	10	1360	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ACTN2_uc001hyg.2_Missense_Mutation_p.E178K|ACTN2_uc009xgi.1_Missense_Mutation_p.E386K|ACTN2_uc010pxu.1_Missense_Mutation_p.E75K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	386					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAAGGGTTACGAGGAGTGGTT	0.542000														65			6		0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562578	22562578	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:22562578C>T	uc002wsm.3	-	1	1487	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	FOXA2_uc002wsn.3_Silent_p.T428T	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	428	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.T428T(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCGTTTTGTTCGTGACCGGGC	0.607000														117			15		0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102398260	102398260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:102398260C>T	uc001phb.3	-	2	526	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	MMP7_uc009yxd.3_Missense_Mutation_p.R160Q|MMP7_uc010rus.1_Missense_Mutation_p.R160Q	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	160					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R160Q(2)|p.A159G(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CTTACCTCCTCGCGCAAAGCC	0.408000														83			5		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22178048	22178048	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22178048G>A	uc009vqd.3	-	54	7192	c.7152C>T	c.(7150-7152)gtC>gtT	p.V2384V	HSPG2_uc001bfj.3_Silent_p.V2383V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2383	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTGGTGCCGGACAGGGAGGC	0.662000														85			16		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31746806	31746806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31746806G>A	uc003nxe.3	-	28	4087	c.3664C>T	c.(3664-3666)Cgt>Tgt	p.R1222C	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.R159C	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1222					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)	GAGGCAGCACGGCGTTCCCGC	0.662000														194			32		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727195	137727195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137727195C>T	uc003lcy.1	+	7	2074	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	KDM3B_uc010jew.1_Missense_Mutation_p.P281L|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	625					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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTTTACAGCCCCCCAAATTG	0.498000														87			6		0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11157626	11157626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11157626C>T	uc003wtm.3	+	2	784	c.386C>T	c.(385-387)cCt>cTt	p.P129L	MTMR9_uc010lrx.3_Missense_Mutation_p.P22L|MTMR9_uc011kxa.2_Missense_Mutation_p.P44L	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	129	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCCTTCCTTCCTGAGCAAGAA	0.408000														35			5		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52156447	52156447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52156447G>A	uc001ryw.3	+	14	2709	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	SCN8A_uc010snl.2_Missense_Mutation_p.R844Q|SCN8A_uc001ryy.2_Missense_Mutation_p.R709Q	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	844					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCAGTGCTGCGATCTTTCCGA	0.363000														62			5		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228524704	228524704	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228524704G>A	uc009xez.1	+	65	16582	c.16538_splice	c.e65-1	p.E5513_splice	OBSCN_uc001hsn.3_Splice_Site_p.E5513_splice|OBSCN_uc001hsr.1_Splice_Site_p.E141_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5513					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)				TGTATCCGCAGAAGAGCCTCT	0.622000														10			3		0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39978708	39978708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39978708C>T	uc002olu.1	+	8	1146	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_Missense_Mutation_p.S37L	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	235					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGATATTTCATGTCTGAAT	0.522000														135			17		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40424151	40424151	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40424151G>A	uc002omp.4	-	3	2060	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	684	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)			GGCAGACAGCGAAGGGGCCAT	0.642000														199			33		0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33007724	33007724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33007724C>T	uc002rom.3	+	14	2084	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	TTC27_uc010ymx.2_Missense_Mutation_p.S554F	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	604							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTGTCAACTTCCTATATCCGA	0.294000														25			11		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	605145	605145	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:605145C>T	uc001lqe.3	+	10	1310	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	PHRF1_uc010qwc.2_Silent_p.I393I|PHRF1_uc010qwd.2_Silent_p.I392I|PHRF1_uc010qwe.2_Silent_p.I389I|PHRF1_uc009ybz.1_Silent_p.I184I|PHRF1_uc009yca.2_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	393	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTCTCGAATCGCGCGGACGC	0.567000														26			5		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934614	30934614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:30934614G>A	uc002nsu.1	+	1	283	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ZNF536_uc010edd.1_Missense_Mutation_p.E49K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E49K(2)		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)					TGCCTTCCCCGAGCTCCATCC	0.667000														63			6		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919645	142919645	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142919645T>C	uc011ksx.2	+	0	474	c.474T>C	c.(472-474)ttT>ttC	p.F158F		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	158					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GCTTCAGCTTTCCTCTCTCGA	0.448000														44			13		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13056459	13056459	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:13056459C>T	uc010xac.2	+	18	3950	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.F815F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Silent_p.F1031F	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	885										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTGTGGCTTCTCAGGAGGCC	0.547000														30			7		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023635	167023635	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167023635C>T	uc011bpc.2	-	16	1858	c.1521G>A	c.(1519-1521)aaG>aaA	p.K507K	ZBBX_uc003feq.3_Silent_p.K478K|ZBBX_uc003fep.3_Silent_p.K507K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	507						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATTTTTCTCCTTTAAATTTC	0.338000														17			3		0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211243	38211243	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38211243C>T	uc003aua.2	+	4	828	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GCAT_uc003atz.3_Silent_p.F229F	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	229					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCTGGTCTTCATGGATGAAT	0.627000														36			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152466492	152466492	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152466492C>T	uc021vrb.1	-	75	11461	c.11432G>A	c.(11431-11433)tGg>tAg	p.W3811*	NEB_uc002txu.3_Nonsense_Mutation_p.W4054*|NEB_uc021vrc.1_Nonsense_Mutation_p.W4054*|NEB_uc010fnx.3_Nonsense_Mutation_p.W3799*|NEB_uc021vrd.1_Nonsense_Mutation_p.W3811*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3811					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGTTTTCCACTTTTGGAA	0.418000														24			4		0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595055	1595055	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1595055C>T	uc003skv.4	-	1	383	c.66G>A	c.(64-66)caG>caA	p.Q22Q	TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	22						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGGGGCTGGGCTGCGGCCAGT	0.682000														93			18		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234519	21234519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21234519C>T	uc002red.3	-	25	5349	c.5221G>A	c.(5221-5223)Gac>Aac	p.D1741N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1741					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCATCATGTCATTTGAGAGC	0.408000														525			34		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62456008	62456008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62456008G>A	uc001dab.3	+	27	3953	c.3839G>A	c.(3838-3840)cGa>cAa	p.R1280Q	INADL_uc009waf.1_Missense_Mutation_p.R1280Q|INADL_uc001daa.2_Missense_Mutation_p.R1280Q|INADL_uc001dad.3_Missense_Mutation_p.R977Q|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.R64Q|INADL_uc009wag.3_Missense_Mutation_p.R64Q|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1280	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCAGATGGACGAATGCGTATT	0.453000														10			4		0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6258674	6258674	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6258674C>T	uc001ije.3	+	4	756	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PFKFB3_uc001ijd.3_Silent_p.F104F|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.F138F|PFKFB3_uc001ijf.3_Silent_p.F124F	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	124	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			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ATCAGGTTTTCGATGCCACCA	0.438000														169			43		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775626	77775626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77775626C>T	uc003yau.2	+	10	10063	c.9676C>T	c.(9676-9678)Ctt>Ttt	p.L3226F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCATCTGCTCTTTCAGTGTT	0.423000										HNSCC(33;0.089)				27			5		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781980	46781980	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:46781980G>A	uc002eei.4	-	0	242	c.126C>T	c.(124-126)ttC>ttT	p.F42F	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	42					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCTTCTTGGAAGTGCAGGA	0.622000														96			6		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64518906	64518906	+	Silent	SNP	G	A	A	rs148177970		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64518906G>A	uc001oax.4	-	15	2677	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	PYGM_uc001oay.4_Silent_p.I532I	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	620					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGAGTCTGATGATCATCTTGG	0.602000														66			13		0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651718	128651718	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:128651718G>A	uc003ifl.3	+	0	164	c.18G>A	c.(16-18)gcG>gcA	p.A6A		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	6					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GTGAGCCTGCGAAAAAGAAGG	0.552000														50			8		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362946	175362946	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175362946G>A	uc001gkp.1	-	3	1407	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	TNR_uc009wwu.1_Silent_p.F442F|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	442	Fibronectin type-III 2.				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)					CCCACCCATCGAAGGAAAATG	0.463000														143			25		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195323	59195323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59195323G>A	uc010dps.1	+	5	1293	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	CDH20_uc002lif.2_Missense_Mutation_p.E375K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	381	Cadherin 3.				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)				CATCAGTGTGGAAGACGTGGA	0.498000														46			7		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47249068	47249068	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47249068G>T	uc002xtw.1	-	33	4400	c.4377C>A	c.(4375-4377)gcC>gcA	p.A1459A	PREX1_uc002xtv.1_Silent_p.A756A	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1459					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCTCAGGCTGGCCCCACCCT	0.652000														40			11		3.07112e-06	3.10917e-06	1	1	0
OR1I1	126370	broad.mit.edu	37	19	15197948	15197948	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15197948G>A	uc010xoe.2	+	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CAGAGCATCAGACCCTCCTCT	0.478000														47			12		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175331899	175331899	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175331899G>A	uc001gkp.1	-	11	2835	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	TNR_uc009wwu.1_Silent_p.F918F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	918	Fibronectin type-III 7.				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)					TGGTGATGGTGAATTCTGTCA	0.517000														24			11		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33638591	33638591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33638591G>A	uc002nui.3	+	3	595	c.517G>A	c.(517-519)Gac>Aac	p.D173N		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	173										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GAGGGCCTGGGACCTGGAGAC	0.537000														41			5		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147000285	147000285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:147000285C>T	uc010jgo.1	-	16	2234	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	JAKMIP2_uc003loq.1_Missense_Mutation_p.G696S|JAKMIP2_uc011dbx.1_Missense_Mutation_p.G654S|JAKMIP2_uc003lor.1_Missense_Mutation_p.G675S|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	696						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)			TCCAGATAGCCTTTTATTTTG	0.373000														29			9		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050539	110050539	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110050539C>T	uc021org.1	-	0	996	c.996G>A	c.(994-996)caG>caA	p.Q332Q	AMIGO1_uc001dxx.4_Silent_p.Q332Q	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	332	Ig-like C2-type.				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)		CGTCCTCGACCTGCACCTGCT	0.502000														101			6		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505323	228505323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228505323G>A	uc009xez.1	+	51	13764	c.13720G>A	c.(13720-13722)Gag>Aag	p.E4574K	OBSCN_uc001hsn.3_Missense_Mutation_p.E4574K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4574	Fibronectin type-III 3.				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)				GCTGTGCCACGAGCTGGTGCC	0.682000														31			5		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62191963	62191963	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62191963G>A	uc002yfm.2	-	16	8261	c.7369C>T	c.(7369-7371)Ctg>Ttg	p.L2457L	PRIC285_uc002yfl.1_Silent_p.L1888L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2457					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCGTGGCCCAGGACACTGGGC	0.632000														76			14		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643659	39643659	+	Missense_Mutation	SNP	C	T	T	rs145372311	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39643659C>T	uc002hwt.3	-	4	931	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	311	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CGTCTCAGCTCGATGATCTCC	0.627000														26			12		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489928	58489928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58489928G>A	uc002qqw.3	-	6	2738	c.2120C>T	c.(2119-2121)cCa>cTa	p.P707L	ZNF606_uc010yhp.2_Missense_Mutation_p.P617L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACACCTGTATGGTTTCTCTCC	0.393000														47			5		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685857	125685857	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125685857G>A	uc022cds.1	-	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I	DCAF12L1_uc004eul.3_Silent_p.I245I	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	245										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCCTCGGACGGATGTGGGCAT	0.652000														34			7		0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19387761	19387762	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19387761_19387762GG>AA	uc002nmh.3	-	12	1921_1922	c.1905_1906CC>TT	c.(1903-1908)aacccc>aaTTcc	p.P636S	SUGP1_uc002nmf.3_Missense_Mutation_p.P186S|SUGP1_uc002nmg.3_Missense_Mutation_p.P186S|SUGP1_uc002nmi.3_Missense_Mutation_p.P426S|SUGP1_uc002nmj.3_Missense_Mutation_p.P426S|SUGP1_uc002nme.3_Missense_Mutation_p.P186S	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	636					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CGTACCAGGGGGTTGGGCCGGA	0.629000														87			6		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520826	131520826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:131520826G>A	uc021voy.1	+	0	1181	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	FAM123C_uc002trw.2_Missense_Mutation_p.G394E|FAM123C_uc010fmv.2_Missense_Mutation_p.G394E|FAM123C_uc010fms.1_Missense_Mutation_p.G394E|FAM123C_uc010fmt.1_Missense_Mutation_p.G394E|FAM123C_uc010fmu.1_Missense_Mutation_p.G394E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	394										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TTCTCGCCAGGACTTGAGGAG	0.612000														55			4		0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44612258	44612258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44612258G>A	uc003tlg.3	-	3	1112	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.R157C|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	157	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding	p.R157C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGGGAGTCACGAAGTTTCAGG	0.517000														104			12		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97221461	97221461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:97221461C>T	uc004aur.3	+	11	1557	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	HIATL1_uc011luh.2_3'UTR	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	430					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	p.P430Q(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CATCCCAGGCCCGCCGTTTTT	0.388000														47			4		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763579	113763579	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113763579G>A	uc010yxr.2	+	1	39	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.Q12*(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTCAGCAGGGGAGCATTCAGG	0.468000														56			6		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787280	46787280	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46787280T>C	uc011dwh.1	+	5	487	c.479T>C	c.(478-480)gTt>gCt	p.V160A	MEP1A_uc010jzh.1_Missense_Mutation_p.V132A|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.V32A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	132	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGTCTGAGGTTGGTGACCAA	0.428000														6			7		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142405169	142405169	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:142405169A>G	uc010huv.3	+	8	1091	c.932A>G	c.(931-933)aAa>aGa	p.K311R	PLS1_uc003euz.3_Missense_Mutation_p.K311R|PLS1_uc003eva.3_Missense_Mutation_p.K311R	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	311	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATTGCCCCTAAAGGTGGGGAA	0.343000														47			3		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27922053	27922053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27922053C>T	uc003xgm.4	-	6	1050	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	303						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		TTCCACATCTCGTCCCTCTTG	0.493000														35			4		0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570755	570755	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:570755G>A	uc002chf.3	+	13	2526	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E	RAB11FIP3_uc010uuf.2_Silent_p.E433E|RAB11FIP3_uc010uug.2_Silent_p.E464E	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	729	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGCAGGAGGAGATCAACTTCC	0.587000														40			5		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236767259	236767259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236767259G>A	uc001hyd.2	-	1	289	c.137C>T	c.(136-138)gCc>gTc	p.A46V	HEATR1_uc001hye.2_Missense_Mutation_p.A46V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	46					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCACCAATGGCGAAGGCGGT	0.443000														39			7		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169095	185169095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:185169095G>A	uc010hyf.3	+	7	1481	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q	MAP3K13_uc011brt.2_Missense_Mutation_p.R190Q|MAP3K13_uc003fph.4_Missense_Mutation_p.R165Q|MAP3K13_uc011bru.2_Missense_Mutation_p.R253Q|MAP3K13_uc003fpi.3_Missense_Mutation_p.R397Q|MAP3K13_uc010hyg.3_Missense_Mutation_p.R87Q	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	397	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.R397*(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCTCGAAACCGACCTTCTTTT	0.398000														44			9		0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20827452	20827452	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20827452G>A	uc001bdi.4	-	3	947	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	264					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TGCCGCTGCAGATACTGCTTC	0.617000														56			13		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125441662	125441663	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125441662_125441663GG>TA	uc001ugy.3	-	16	2275_2276	c.2176_2177CC>TA	c.(2176-2178)ccg>TAg	p.P726*		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P726L(2)		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)		GGGGGGCGTCGGGAAGGGGAAG	0.619000														70			7		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73738802	73738802	+	Silent	SNP	C	T	T	rs139130590	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73738802C>T	uc002jpg.3	+	24	3109	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	ITGB4_uc002jph.3_Silent_p.L974L|ITGB4_uc002jpi.4_Silent_p.L974L|ITGB4_uc010dgp.1_3'UTR|ITGB4_uc002jpj.3_Silent_p.L974L	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	974					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.L974L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCCACCCTCGGCCGCCGCC	0.657000														46			5		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16358425	16358425	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:16358425C>T	uc003cay.3	-	9	1929	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	RFTN1_uc010hes.3_Silent_p.G513G|OXNAD1_uc003cax.3_Intron|OXNAD1_uc011awb.2_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	549						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CAGTGCAAATCCCCACCAGGG	0.607000														122			12		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390814	197390814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390814G>A	uc001gtz.3	+	5	2065	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	CRB1_uc010poz.2_Missense_Mutation_p.G550E|CRB1_uc009wza.3_Missense_Mutation_p.G507E|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.G619E|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G100E|CRB1_uc001gub.1_Missense_Mutation_p.G268E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	619	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						TTACCAGTGGGAATGACCAGC	0.418000														57			6		0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554533	152554533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:152554533C>T	uc003ezq.3	+	0	1798	c.962C>T	c.(961-963)cCc>cTc	p.P321L		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	321					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGTGTGGACCCCATTCTCTAT	0.463000														69			5		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212579	55212579	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:55212579G>A	uc003jql.3	+	14	2118	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	IL31RA_uc003jqm.3_Silent_p.V623V|IL31RA_uc003jqn.3_Silent_p.V642V|IL31RA_uc021xyq.1_Silent_p.V623V|IL31RA_uc003jqo.3_Silent_p.V500V	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	610					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTTGGTGGTGAACTTTGGGA	0.448000														45			4		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154561131	154561131	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:154561131G>A	uc003wlk.3	+	8	1017	c.888G>A	c.(886-888)gaG>gaA	p.E296E	DPP6_uc003wli.3_Silent_p.E232E|DPP6_uc003wlm.3_Silent_p.E234E|DPP6_uc011kvq.2_Silent_p.E189E	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	296					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTTAGAGGAGATTTTGAAGA	0.507000														54			4		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003406	57003406	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57003406G>A	uc002eki.2	+	2	399	c.342G>A	c.(340-342)ctG>ctA	p.L114L	CETP_uc002ekj.2_Silent_p.L114L	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	114					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGGGGACCCTGAAGTATGGCT	0.582000														111			8		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964007	123964007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:123964007C>T	uc022bag.1	+	0	257	c.257C>T	c.(256-258)tCc>tTc	p.S86F	ZHX2_uc003ypk.1_Missense_Mutation_p.S86F	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	86						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCCCCTACTCCACGCAAAAC	0.473000														55			5		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714791	92714791	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92714791C>T	uc001pdk.1	+	1	505	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	134					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCACTGCCATCGCCATTAACC	0.592000														268			24		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63112759	63112759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63112759G>A	uc002alb.4	+	50	6952	c.6952G>A	c.(6952-6954)Gaa>Aaa	p.E2318K	TLN2_uc002alc.4_Missense_Mutation_p.E711K|TLN2_uc010uic.2_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2318	I/LWEQ.				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						AGCATCCATCGAAGCTGCTGC	0.468000														49			4		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17025287	17025287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17025287G>A	uc002nfb.3	-	28	3981	c.3949C>T	c.(3949-3951)Ccg>Tcg	p.P1317S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1270						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						GCTGTCAGCGGGACAGTGCCG	0.632000														33			7		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489220	42489220	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42489220G>A	uc002osh.3	-	7	997	c.843C>T	c.(841-843)ttC>ttT	p.F281F	ATP1A3_uc010xwf.2_Silent_p.F292F|ATP1A3_uc010xwg.2_Silent_p.F251F|ATP1A3_uc002osg.3_Silent_p.F281F|ATP1A3_uc010xwh.2_Silent_p.F294F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	281					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						TGAGCTGGATGAAGTGCTCAA	0.602000														19			6		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640520	3640520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3640520G>A	uc002cvp.2	-	11	3746	c.3119C>T	c.(3118-3120)cCc>cTc	p.P1040L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1040	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						CCCGCCCTGGGGAGGCCCCAA	0.667000								Direct reversal of damage						120			9		0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612821	7612821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:7612821C>T	uc003srf.3	+	3	1023	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	MIOS_uc010ktp.1_Missense_Mutation_p.R239C	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	239										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTCCACGATCGTGTTGCTTC	0.398000														46			12		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716487	13716487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:13716487C>T	uc001rbt.2	-	12	3864	c.3685G>A	c.(3685-3687)Gtg>Atg	p.V1229M		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1229					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGACCCGTCACCGTCGTGGAG	0.602000														55			5		0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94733976	94733976	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:94733976T>G	uc010qnr.2	+	18	2131	c.1988T>G	c.(1987-1989)tTt>tGt	p.F663C	EXOC6_uc001kie.3_Missense_Mutation_p.F642C|EXOC6_uc001kig.3_Missense_Mutation_p.F647C|EXOC6_uc009xub.3_Missense_Mutation_p.F646C|EXOC6_uc009xuc.3_Missense_Mutation_p.F544C|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.F221C	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	647					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTCAAGTGTTTACTCATTTG	0.313000														236			19		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688944	60688944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:60688944G>A	uc002sae.1	-	3	1331	c.1103C>T	c.(1102-1104)cCt>cTt	p.P368L	BCL11A_uc002sab.3_Missense_Mutation_p.P368L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P334L|BCL11A_uc002sad.1_Missense_Mutation_p.P216L|BCL11A_uc002saf.1_Missense_Mutation_p.P334L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	368	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGGGAGGGAGGAGGGGCGGA	0.642000			T	IGH@	B-CLL									540			33		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54258908	54258908	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54258908G>A	uc001cvs.3	-	13	1920	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	TMEM48_uc010onu.2_Silent_p.F503F|TMEM48_uc001cvt.3_Silent_p.F420F|TMEM48_uc009vzk.3_Intron|TMEM48_uc010onv.2_Silent_p.F208F	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	543					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TTACCTTACTGAAAAAATACA	0.303000														87			31		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922621	37922621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37922621C>T	uc002hsu.3	-	7	1014	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	IKZF3_uc002htd.3_Missense_Mutation_p.E284K|IKZF3_uc010cwd.3_Missense_Mutation_p.E175K|IKZF3_uc002hsv.3_Missense_Mutation_p.E245K|IKZF3_uc010cwe.3_Missense_Mutation_p.E184K|IKZF3_uc010cwf.3_Missense_Mutation_p.E136K|IKZF3_uc010cwg.3_Missense_Mutation_p.E97K|IKZF3_uc002hsw.3_Missense_Mutation_p.E279K|IKZF3_uc002hsx.3_Missense_Mutation_p.E262K|IKZF3_uc002hsy.3_Missense_Mutation_p.E279K|IKZF3_uc002hsz.3_Missense_Mutation_p.E223K|IKZF3_uc002hta.3_Missense_Mutation_p.E240K|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.E231K|IKZF3_uc002htc.3_Missense_Mutation_p.E71K|IKZF3_uc010wel.2_Missense_Mutation_p.E71K	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	318					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGCAGGGCTTCGGCGCCAAGA	0.532000														59			8		0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845857	70845857	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:70845857G>A	uc002jjb.3	-	5	653	c.538C>T	c.(538-540)Cga>Tga	p.R180*	SLC39A11_uc002jja.3_Nonsense_Mutation_p.R173*	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	180					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.G180V(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGATTCCCTCGAGAAGGCACA	0.562000														71			9		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902429	129902429	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:129902429G>A	uc001lke.3	-	12	7870	c.7675C>T	c.(7675-7677)Ctg>Ttg	p.L2559L	MKI67_uc001lkf.3_Silent_p.L2199L|MKI67_uc009yav.1_Silent_p.L2134L|MKI67_uc009yaw.1_Silent_p.L1709L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2559	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGTCAACCAGGTCTTCTAGA	0.488000														74			7		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139281519	139281519	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139281519G>A	uc003vvf.4	-	11	2932	c.2661C>T	c.(2659-2661)gtC>gtT	p.V887V	HIPK2_uc003vvd.4_Silent_p.V860V	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	887	Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGATGGTGATGACGCTGACCG	0.652000														104			31		0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76867038	76867039	+	Missense_Mutation	DNP	GG	AA	AA	rs138408968		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76867038_76867039GG>AA	uc002jwf.3	-	2	583_584	c.281_282CC>TT	c.(280-282)tcc>tTT	p.S94F	TIMP2_uc002jwe.3_Missense_Mutation_p.S17F|TIMP2_uc010wty.2_Missense_Mutation_p.S17F	NM_003255	NP_003246	P16035	TIMP2_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA.	94	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			ACACTGCCGAGGAGGGGGCCGT	0.545000														127			17		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37061859	37061859	+	Missense_Mutation	SNP	C	T	T	rs151119913		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37061859C>T	uc003cgl.3	+	10	1141	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	MLH1_uc011aye.2_Missense_Mutation_p.H74Y|MLH1_uc011ayb.2_Missense_Mutation_p.H74Y|MLH1_uc010hge.3_Missense_Mutation_p.H315Y|MLH1_uc011ayc.2_Missense_Mutation_p.H217Y|MLH1_uc011ayd.2_Missense_Mutation_p.H74Y|MLH1_uc003cgo.3_Missense_Mutation_p.H74Y|MLH1_uc003cgn.4_Missense_Mutation_p.H74Y|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_Intron|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.3_Intron|MLH1_uc010hgl.1_Silent_p.F13F	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	315					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCATGAAGTTCACTTCCTGCA	0.498000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					43			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088193	94088193	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94088193C>T	uc001ybv.1	+	27	4232	c.4149C>T	c.(4147-4149)atC>atT	p.I1383I	UNC79_uc001ybs.1_Silent_p.I1361I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1538						integral to membrane		p.L1382L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCGTATATCGCACAAAGAC	0.498000														49			7		0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25229042	25229042	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25229042G>A	uc009vrj.3	-	6	1107	c.861C>T	c.(859-861)gcC>gcT	p.A287A	RUNX3_uc001bjq.3_Silent_p.A273A|RUNX3_uc010oen.2_Silent_p.A220A|RUNX3_uc001bjr.3_Silent_p.A287A|RUNX3_uc001bjs.3_Non-coding_Transcript	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA.	273	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CAGCTGACATGGCCCCGGGAT	0.672000														128			24		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24955154	24955154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:24955154G>A	uc002dnb.3	-	14	1364	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	ARHGAP17_uc002dna.3_Missense_Mutation_p.S151F|ARHGAP17_uc002dnc.3_Missense_Mutation_p.S424F|ARHGAP17_uc010vcf.2_Missense_Mutation_p.S245F	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	424	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CACATGGACGGATGTGGCTGC	0.448000														70			5		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69362374	69362374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:69362374G>A	uc003hdz.4	+	9	1188	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	375	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GACTCTGGAGGACCACTGGTT	0.393000														156			12		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899670	45899670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45899670G>A	uc002pbn.3	-	4	814	c.737C>T	c.(736-738)cCt>cTt	p.P246L	PPP1R13L_uc002pbo.3_Missense_Mutation_p.P246L|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P246L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	246	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCTTTCGGAGGCCGCCGGCG	0.657000														66			12		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990462	39990462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:39990462C>T	uc002xjy.1	-	3	1971	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	583						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGAGTGATCTCGCCTTGAAGT	0.592000														109			14		0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	233185	233185	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:233185G>A	uc001lok.4	-	2	538	c.504C>T	c.(502-504)ctC>ctT	p.L168L	SIRT3_uc001loj.4_Silent_p.L26L|SIRT3_uc010qvm.2_Silent_p.L104L|SIRT3_uc010qvn.2_Silent_p.L87L|SIRT3_uc010qvo.2_Silent_p.L168L|SIRT3_uc010qvp.2_Silent_p.L168L|SIRT3_uc010qvq.2_Silent_p.L26L|SIRT3_uc009ybt.1_Non-coding_Transcript	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CGTACTGCTGGAGGTTGCTGT	0.547000														28			4		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460771	142460771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142460771C>T	uc003wak.2	+	4	661	c.644C>T	c.(643-645)tCc>tTc	p.S215F	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_uc003wam.2_Missense_Mutation_p.S155F	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	215	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)			GGAGTTGTCTCCTGGGGTGAT	0.502000														49			21		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96922783	96922783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96922783G>A	uc001yfn.2	+	10	1242	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	400	Adenylate kinase.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.D400E(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCAACTGAAGGATGTCATTTC	0.378000														44			8		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73554278	73554278	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73554278G>A	uc002joh.3	+	3	370	c.216G>A	c.(214-216)gaG>gaA	p.E72E	LLGL2_uc002jog.1_Silent_p.E72E|LLGL2_uc010dgf.1_Silent_p.E72E|LLGL2_uc002joi.3_Silent_p.E72E|LLGL2_uc010dgg.2_Silent_p.E72E|LLGL2_uc002joj.3_Silent_p.E61E	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	72					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGCACCAGGAGAACAACGCTG	0.627000														131			13		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069894	63069894	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63069894C>T	uc009yor.3	+	6	1372	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	388						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGGAGCTGTCGCTCTCATAG	0.433000														13			4		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331560	17331560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17331560G>A	uc001baa.2	-	3	486	c.296C>T	c.(295-297)tCc>tTc	p.S99F	ATP13A2_uc001bac.2_Missense_Mutation_p.S99F|ATP13A2_uc001bab.2_Missense_Mutation_p.S99F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	99					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GAGCTGCCAGGAACTATCCTG	0.637000														31			13		0	0	1	0	0
LOC254559	254559	broad.mit.edu	37	15	89911359	89911359	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89911359C>T	uc002bnv.2	+	0		c.30C>T								Homo sapiens uncharacterized LOC254559 (LOC254559), non-coding RNA.																		TGCGAgcgcccgccccaccga	0.637000														20			4		0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50523257	50523257	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50523257G>A	uc003bjg.1	-	1	348	c.75C>T	c.(73-75)ccC>ccT	p.P25P	MLC1_uc011arl.1_Silent_p.P25P|MLC1_uc003bjh.1_Silent_p.P25P|MLC1_uc011arm.1_Silent_p.P25P|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Silent_p.P25P	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	25				P -> H (in Ref. 8; AAH28425).		basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CATAGCTGGCGGGGTCTTGCC	0.647000														51			9		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058182	43058182	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43058182G>A	uc002xma.3	+	9	1391	c.1302G>A	c.(1300-1302)caG>caA	p.Q434Q	HNF4A_uc002xlu.3_Silent_p.Q402Q|HNF4A_uc002xlv.3_Silent_p.Q412Q|HNF4A_uc010ggq.3_Silent_p.Q427Q|HNF4A_uc002xlz.3_Silent_p.Q424Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	434					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGACCCCACAGCCCTCACCGC	0.607000														323			22		0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17743075	17743075	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17743075G>A	uc001bal.3	-	6	976	c.927C>T	c.(925-927)ccC>ccT	p.P309P	RCC2_uc001bam.3_Silent_p.P309P	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	309					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)		CCACTCGCCGGGGAACTAGTT	0.557000														66			5		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18322014	18322014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18322014C>T	uc010xqc.2	-	14	2344	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	PDE4C_uc002nik.4_Missense_Mutation_p.D622N|PDE4C_uc002nil.4_Missense_Mutation_p.D622N|PDE4C_uc002nig.4_Missense_Mutation_p.D337N|PDE4C_uc002nih.4_Missense_Mutation_p.D392N|PDE4C_uc010ebk.3_Missense_Mutation_p.D516N|PDE4C_uc002nii.4_Missense_Mutation_p.D590N|PDE4C_uc002nif.4_Missense_Mutation_p.D391N|PDE4C_uc010ebl.3_Missense_Mutation_p.D336N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	622					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TCCAGCAGGTCCTGTGCATCT	0.622000														55			15		0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12292676	12292676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:12292676C>T	uc003nae.4	+	1	501	c.167C>T	c.(166-168)tCg>tTg	p.S56L	EDN1_uc010jpb.3_Missense_Mutation_p.S56L|EDN1_uc003nad.3_Missense_Mutation_p.S56L|EDN1_uc003naf.4_Missense_Mutation_p.S55L	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	56					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TGCTCCTGCTCGTCCCTGATG	0.587000														86			5		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999542	218999542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218999542G>A	uc002vgz.2	+	3	228	c.18G>A	c.(16-18)atG>atA	p.M6I	CXCR2_uc002vha.2_Missense_Mutation_p.M6I|CXCR2_uc002vhb.2_Missense_Mutation_p.M6I|CXCR2_uc021vwp.1_Missense_Mutation_p.M6I	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	6					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATTTTAACATGGAGAGTGACA	0.403000														64			6		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012974	189012974	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:189012974G>A	uc011cle.1	-	7	1164	c.942C>T	c.(940-942)ttC>ttT	p.F314F	TRIML2_uc003izj.1_Silent_p.F67F|TRIML2_uc003izk.1_Silent_p.F47F|TRIML2_uc003izl.2_Silent_p.F239F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	239	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCATGGCACTGAAATCCAATC	0.557000														118			7		0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16528870	16528870	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16528870T>G	uc002ndx.3	-	10	1002	c.996A>C	c.(994-996)caA>caC	p.Q332H	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.Q222H|EPS15L1_uc002ndz.1_Missense_Mutation_p.Q332H|EPS15L1_uc010xpf.1_Missense_Mutation_p.Q235H|EPS15L1_uc002nea.1_Missense_Mutation_p.Q332H|EPS15L1_uc010eah.1_Missense_Mutation_p.Q332H|EPS15L1_uc002neb.1_Missense_Mutation_p.Q178H|EPS15L1_uc002nec.1_Missense_Mutation_p.Q332H	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	332	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTAACGCGAATTGGTCTTTGC	0.547000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			8		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060089	74060089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74060089G>A	uc002jqk.1	-	3	564	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	SRP68_uc010wsu.1_Missense_Mutation_p.R76C|SRP68_uc002jql.1_Missense_Mutation_p.R139C	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	177					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCATCCACGCGATTGCTCTCA	0.448000														102			7		0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152629191	152629191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:152629191G>A	uc003iml.3	-	5	867	c.826C>T	c.(826-828)Cga>Tga	p.R276*	PET112_uc003imm.4_Nonsense_Mutation_p.R276*	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	276						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTCCGTTCGAACGCCCAAA	0.498000														33			10		0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518781	129518781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129518781G>A	uc011muv.2	-	0	731	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	214						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGTCCGTGGGGATCGATAACC	0.517000														14			3		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203257	1203257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1203257G>A	uc001adp.3	-	1	305	c.116C>T	c.(115-117)tCg>tTg	p.S39L	UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Missense_Mutation_p.S39L|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	39					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.P38H(1)|p.S39S(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GAGAATATTCGAAGGGAGGGG	0.632000														179			43		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176316540	176316540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176316540C>T	uc003mfa.3	-	7	848	c.756G>A	c.(754-756)atG>atA	p.M252I	HK3_uc003mez.3_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	252	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCTCCTCCATGTAACACG	0.637000														25			4		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28865889	28865889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:28865889G>A	uc002rmb.2	+	57	4383	c.4339G>A	c.(4339-4341)Gaa>Aaa	p.E1447K	PLB1_uc010ezj.2_Missense_Mutation_p.E1436K|PLB1_uc002rme.2_Missense_Mutation_p.E412K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1447					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGCCGGAGGGAAGATCCTCC	0.652000														12			4		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226566885	226566885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226566885G>A	uc001hqd.4	-	11	1874	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	568					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTGTAGTAGGAGTTGGTTCC	0.547000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						94			14		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188893	8188893	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8188893C>T	uc002mjf.3	-	22	2749	c.2732_splice	c.e22-1	p.D911_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	911						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						AATCTCACATCTGCACGGGGG	0.617000														15			3		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66898966	66898966	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66898966C>T	uc002jhq.3	-	20	2992	c.2652G>A	c.(2650-2652)gtG>gtA	p.V884V	ABCA8_uc002jhp.3_Silent_p.V844V|ABCA8_uc010wqq.2_Silent_p.V884V|ABCA8_uc010wqr.2_Silent_p.V823V|ABCA8_uc002jhr.3_Silent_p.V884V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	844						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)					GATATATTTTCACCATGGTAT	0.388000														61			7		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191903929	191903929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:191903929G>A	uc002usm.2	-	15	1745	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	STAT4_uc002usn.2_Missense_Mutation_p.S477F|STAT4_uc010zgk.1_Missense_Mutation_p.S322F|STAT4_uc002uso.2_Missense_Mutation_p.S477F	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	477					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTCTACCTGGGAATCGTTGGT	0.428000														50			9		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021210	5021210	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5021210C>T	uc001qnh.3	+	1	1771	c.666C>T	c.(664-666)ttC>ttT	p.F222F	KCNA1_uc021qts.1_Silent_p.F222F	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	222					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCCTTCTTCATCGTGGAAA	0.527000														38			6		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490764	65490764	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65490764C>T	uc002aon.2	-	8	2041	c.1860G>A	c.(1858-1860)gtG>gtA	p.V620V		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	620					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACTGGCCTTCACTTTTCCTA	0.542000														128			9		0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	245927442	245927442	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:245927442G>A	uc001ibl.3	-	10	1211	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	SMYD3_uc001ibk.3_Silent_p.F303F|SMYD3_uc001ibj.3_Silent_p.F173F	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	362						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.E361*(1)|p.C362C(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGCTTCCTGGGAAAAAAATCC	0.483000														26			11		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416787	82416787	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:82416787G>A	uc001dit.4	+	7	1759	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.V526V|LPHN2_uc001div.3_Silent_p.V526V|LPHN2_uc009wcd.3_Silent_p.V526V|LPHN2_uc001diw.3_Silent_p.V97V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	526					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CACACTGGGTGAATCAGCTGG	0.418000														18			3		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919002	12919002	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12919002G>A	uc001aum.1	+	1	225	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	46										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)		CCTTCAGCAGGAGACACTTCC	0.592000														132			8		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76990179	76990179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76990179C>T	uc003ugf.3	-	13	1068	c.989G>A	c.(988-990)gGg>gAg	p.G330E	PION_uc003ugg.1_Missense_Mutation_p.G115E	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	330					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGTGTGACCCAACATTCTC	0.463000														27			3		0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300859	110300859	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:110300859C>T	uc011eav.2	+	2	833	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	GPR6_uc011eaw.2_Silent_p.L182L|GPR6_uc003ptu.3_Silent_p.L182L|GPR6_uc021zds.1_Silent_p.L182L	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	182						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCGCCGGACCCTGTTGGGCGT	0.677000														34			8		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58121770	58121770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:58121770C>T	uc001spq.3	-	14	2716	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	AGAP2_uc001spp.3_Missense_Mutation_p.E905K|AGAP2_uc001spr.3_Missense_Mutation_p.E550K|LOC100130776_uc001sps.4_3'UTR	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	906	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCTGACTCTCGATGGCCTGG	0.562000														128			11		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4906086	4906086	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4906086C>T	uc002gan.2	+	7	1026	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	223	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCTTTACCATCGTCTTCACAC	0.612000														125			8		0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64799642	64799642	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64799642C>T	uc001oci.4	+	4	756	c.102C>T	c.(100-102)ttC>ttT	p.F34F	SNX15_uc001ock.3_Silent_p.F34F	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	34	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTTCTCAGTTCATCTCAAAGA	0.552000														74			4		0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589431	138589431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138589431C>T	uc010nbe.3	-	3	449	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SOHLH1_uc004cgl.3_Missense_Mutation_p.D130N	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	130					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TGTAAAACATCCTCCTGCAAC	0.507000														35			4		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023657	76023657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76023657C>T	uc010kbe.3	-	5	2430	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	FILIP1_uc003phy.1_Missense_Mutation_p.E631K|FILIP1_uc003phz.3_Missense_Mutation_p.E532K|FILIP1_uc003pia.3_Missense_Mutation_p.E631K|FILIP1_uc003pib.1_Missense_Mutation_p.E383K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	631								p.E631K(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGTGTTAGTTCCTTAATCTTA	0.423000														99			12		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424379	125424379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125424379C>T	uc022bmz.1	+	0	385	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CATATGTAATCCCTTCCACTA	0.468000														99			23		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593341	137593341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137593341C>T	uc003lcn.3	-	3	912	c.772G>A	c.(772-774)Gac>Aac	p.D258N	GFRA3_uc003lco.3_Missense_Mutation_p.D227N	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	258					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAAAGCGGGTCGGAGAAGCAG	0.692000														19			5		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687033	68687033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:68687033G>A	uc001jmz.1	+	1	909	c.359G>A	c.(358-360)aGa>aAa	p.R120K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.R120K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	120						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGTTCCAATAGAATCTCCTAT	0.383000														82			6		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52497915	52497915	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:52497915G>A	uc002egw.2	-	2	510	c.339C>T	c.(337-339)ctC>ctT	p.L113L	TOX3_uc010vgt.1_Silent_p.L108L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	113					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TAATGGAAGGGAGGTCCAGGC	0.478000														42			7		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52536615	52536615	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52536615G>A	uc010bff.3	-	18	2490	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	776	IQ 1.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCTCGGAGGAATTTTTTCC	0.483000														68			7		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249080	124249080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124249080G>A	uc001lgj.2	+	2	843	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	239	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGCCACTTACGAAGCCAAAAT	0.493000														47			6		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31120235	31120235	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31120235G>A	uc003tca.2	+	4	562	c.273G>A	c.(271-273)gaG>gaA	p.E91E	ADCYAP1R1_uc003tcg.3_Silent_p.E91E|ADCYAP1R1_uc003tce.2_Silent_p.E91E|ADCYAP1R1_uc003tcb.2_Intron|ADCYAP1R1_uc003tcc.2_Silent_p.E91E	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	91					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGTCTGGGAGACCGAAACCA	0.552000														48			9		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47469047	47469047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47469047G>A	uc003crh.1	-	4	776	c.521C>T	c.(520-522)cCt>cTt	p.P174L	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	174					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)		GAAGTTCCCAGGGGACAGCAG	0.567000														72			6		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63720063	63720063	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:63720063G>A	uc002sch.3	-	1	549	c.87C>T	c.(85-87)tcC>tcT	p.S29S	WDPCP_uc002sci.2_Silent_p.S5S	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	29					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GATGGCAGAAGGAATCTCTAT	0.338000														32			18		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090502	49090502	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49090502C>T	uc002pjl.3	+	2	312	c.231C>T	c.(229-231)atC>atT	p.I77I	SULT2B1_uc002pjm.3_Silent_p.I62I	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCTGGATGATCGAGATCATCT	0.527000														40			7		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325408	43325408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43325408G>A	uc003oux.3	-	2	722	c.644C>T	c.(643-645)cCc>cTc	p.P215L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	215					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCCAAGAAGGGACTGAGAGG	0.493000														48			7		0	0	1	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2492151	2492151	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2492151C>A	uc001ajr.3	+	4	848	c.549C>A	c.(547-549)acC>acA	p.T183T	TNFRSF14_uc009vlf.1_Silent_p.T183T|TNFRSF14_uc001ajt.1_Missense_Mutation_p.P353Q	NM_003820	NP_003811	Q92956	TNR14_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA.	183					T cell costimulation|immune response|interspecies interaction between organisms		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AGCACCAGACCAAGTAAGTGA	0.617000			"""Mis, N, F"""		follicular lymphoma									45			7		0.0293803	0.029572	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089741	9089741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9089741C>T	uc002mkp.3	-	0	2278	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	692	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						CTGGTTCCTTCCCTGAAAGCT	0.507000														37			12		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615118	36615118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36615118G>A	uc021qge.1	-	0	601	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	RAG2_uc021qgc.1_Nonsense_Mutation_p.Q201*|RAG2_uc021qgd.1_Nonsense_Mutation_p.Q201*|RAG2_uc001mwv.4_Nonsense_Mutation_p.Q201*|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	201					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AGCCCATCCTGAAGTTCTGGA	0.418000									Familial Hemophagocytic Lymphohistiocytosis					41			5		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6530577	6530577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6530577C>T	uc001anp.1	-	15	2398	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	PLEKHG5_uc001ann.1_Missense_Mutation_p.E594K|PLEKHG5_uc001ano.1_Missense_Mutation_p.E613K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E634K|PLEKHG5_uc001anj.1_Missense_Mutation_p.E118K|PLEKHG5_uc009vma.1_Missense_Mutation_p.E397K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E626K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E557K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E557K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E557K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E557K	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	613					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.D634Y(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTCCACTTCGTCGCTGCTG	0.687000														21			5		0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	26978217	26978217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:26978217C>T	uc010mja.3	+	2	339	c.212C>T	c.(211-213)cCt>cTt	p.P71L	IFT74_uc010mjb.3_Missense_Mutation_p.P71L|IFT74_uc003zqf.4_Missense_Mutation_p.P71L|IFT74_uc003zqg.4_Missense_Mutation_p.P71L	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	71						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GCCCATCGCCCTGTAACACAA	0.438000														15			3		0	0	1	0	0
HAUS2	55142	broad.mit.edu	37	15	42851594	42851594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42851594C>T	uc001zqe.3	+	2	304	c.244C>T	c.(244-246)Cct>Tct	p.P82S	HAUS2_uc010udi.2_Missense_Mutation_p.P51S|HAUS2_uc001zqf.3_5'UTR	NM_018097	NP_060567	Q9NVX0	HAUS2_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 2 (HAUS2), transcript variant 1, mRNA.	82					G2/M transition of mitotic cell cycle|cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|cytosol|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						TGTTGTTCATCCTTTCTTTTT	0.338000														45			5		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102605694	102605695	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102605694_102605695GG>AA	uc001ykv.4	-	0	392_393	c.47_48CC>TT	c.(46-48)tcc>tTT	p.S16F	WDR20_uc001ylf.3_5'Flank|WDR20_uc001ykz.3_5'Flank|WDR20_uc010txu.2_5'Flank|WDR20_uc001yky.2_5'Flank|WDR20_uc001yla.3_5'Flank|WDR20_uc001ylb.3_5'Flank|WDR20_uc001ylc.3_5'Flank|WDR20_uc001yle.3_5'Flank|WDR20_uc001yld.3_5'Flank	NM_001017963	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 1, mRNA.	0					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TGTCCCGAAGGGAGGGCCCAGG	0.728000														29			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477558	128477558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128477558G>A	uc003vnz.4	+	3	1015	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	FLNC_uc003voa.4_Missense_Mutation_p.R269Q	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	269					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						GCCCCTGTTCGATCCAAGCAG	0.602000														70			9		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968072	2968072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2968072C>T	uc001qlf.3	-	8	2307	c.2024G>A	c.(2023-2025)aGg>aAg	p.R675K	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Missense_Mutation_p.R713K|FOXM1_uc009zea.3_Missense_Mutation_p.R660K|FOXM1_uc009zeb.3_Missense_Mutation_p.R659K|FOXM1_uc001qlg.3_Missense_Mutation_p.R660K	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	675					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACTGAGGAGCCTTTGCGGTGA	0.602000														58			5		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014116	58014116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:58014116C>T	uc001spe.3	+	0	424	c.113C>T	c.(112-114)tCt>tTt	p.S38F	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	38						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCATCCACTTCTATCCCAGGC	0.537000														568			48		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587504	135587504	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:135587504C>T	uc003lbn.2	-	5	1634	c.1412G>A	c.(1411-1413)tGg>tAg	p.W471*	TRPC7_uc010jef.2_Nonsense_Mutation_p.W407*|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Nonsense_Mutation_p.W22*|TRPC7_uc010jeh.2_Nonsense_Mutation_p.W410*|TRPC7_uc010jei.2_Nonsense_Mutation_p.W355*	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	471					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGCAGGTTCCACAAGTGCAG	0.567000														33			9		0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110146621	110146621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110146621C>T	uc001dya.3	-	6	1039	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	276					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	p.E276K(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTGATTTTTTCCTCAAAGAGG	0.393000														39			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710476	140710476	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140710476C>T	uc003lji.2	+	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGC5_uc011dan.2_Silent_p.F75F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	75	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)			TGCCGCTTTTCGCTCTGAATC	0.582000														114			9		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444102	15444102	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15444102G>A	uc003gno.3	+	2	829	c.570G>A	c.(568-570)ggG>ggA	p.G190G	C1QTNF7_uc011bxb.2_Silent_p.G183G|C1QTNF7_uc003gnp.3_Silent_p.G183G	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	183	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTGCCACAGGGAAGTTCATCT	0.438000														136			23		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183195866	183195866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183195866C>T	uc001gqa.2	+	8	1414	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	LAMC2_uc001gpz.4_Missense_Mutation_p.S367L|LAMC2_uc010poa.2_Missense_Mutation_p.S67L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	367	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACCCTGATTTCAGCCCGCCCT	0.502000														173			23		0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48066818	48066818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:48066818G>A	uc002rwe.3	-	1	396	c.323C>T	c.(322-324)cCg>cTg	p.P108L	FBXO11_uc010fbl.3_Missense_Mutation_p.P24L|FBXO11_uc002rwg.2_Missense_Mutation_p.P108L	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	108					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)|p.D108V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTTCTTTTCGGCAAAAGAGT	0.373000			"""Mis, F, D"""		DLBCL									47			16		0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45475742	45475742	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45475742G>T	uc009vxk.3	-	3	773	c.675C>A	c.(673-675)ttC>ttA	p.F225L	HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Intron|UROD_uc010oli.2_5'Flank|UROD_uc001cna.2_5'Flank|UROD_uc001cnb.2_5'Flank|UROD_uc010olj.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	225	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGTCATACAAGAAGTGGATCA	0.572000														84			19		1.67942e-08	1.70146e-08	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24411109	24411109	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24411109G>A	uc001bin.4	-	15	1982	c.1819C>T	c.(1819-1821)Caa>Taa	p.Q607*	MYOM3_uc001bim.4_Nonsense_Mutation_p.Q264*|MYOM3_uc001bio.3_Nonsense_Mutation_p.Q607*|MYOM3_uc001bip.1_Nonsense_Mutation_p.Q264*	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	607	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTTGAACTTGAGCTGGAGGA	0.522000														214			13		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552731	41552731	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41552731T>G	uc003xok.3	-	26	3163	c.3079A>C	c.(3079-3081)Agc>Cgc	p.S1027R	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S343R|ANK1_uc003xoi.3_Missense_Mutation_p.S1027R|ANK1_uc003xoj.3_Missense_Mutation_p.S1027R|ANK1_uc003xol.3_Missense_Mutation_p.S1027R|ANK1_uc003xom.3_Missense_Mutation_p.S1068R	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1027					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCAGGTAGCTCTCTCCATAG	0.627000														175			15		0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049399	23049399	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:23049399C>T	uc003xda.3	-	9	1321	c.1215G>A	c.(1213-1215)ggG>ggA	p.G405G		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	405	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACAAGGCATCCCCTGGGCCTG	0.542000														138			11		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922614	24922614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922614C>T	uc001ywo.3	+	0	2074	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	534	Pro-rich.				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)		GACTCTTCTTCCAGTCCCTTC	0.527000														180			9		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40498622	40498622	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40498622G>A	uc002hzl.1	-	2	478	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	STAT3_uc002hzk.1_Nonsense_Mutation_p.Q80*|STAT3_uc002hzm.1_Nonsense_Mutation_p.Q80*|STAT3_uc010wgh.1_5'UTR|STAT3_uc002hzn.1_Nonsense_Mutation_p.Q80*	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	80					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGATTGTGCTGATAGAGAACA	0.468000									Hyperimmunoglobulin E Recurrent Infection Syndrome					189			11		0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44983827	44983827	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44983827G>A	uc010zxp.2	-	6	642	c.549C>T	c.(547-549)ttC>ttT	p.F183F	SLC35C2_uc002xro.3_Silent_p.F154F|SLC35C2_uc002xrp.3_Intron|SLC35C2_uc002xrq.3_Silent_p.F154F|SLC35C2_uc002xrr.3_Silent_p.F154F|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Silent_p.F40F	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	154					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				ACTTGTAGGTGAACATGAAGA	0.627000														41			8		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614213	36614213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36614213C>T	uc021qge.1	-	0	1506	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.M502I|RAG2_uc021qgd.1_Missense_Mutation_p.M502I|RAG2_uc001mwv.4_Missense_Mutation_p.M502I|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	502					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGAGGGATTTCATTGGAGGCT	0.408000									Familial Hemophagocytic Lymphohistiocytosis					57			4		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68191151	68191151	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68191151C>A	uc001ont.3	+	13	3297	c.3222C>A	c.(3220-3222)gtC>gtA	p.V1074V	LRP5_uc009ysg.3_Silent_p.V484V	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1074	Beta-propeller 4.				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						CCATCGTCGTCAACGCGGAGC	0.687000														63			4		0.00909568	0.00916563	1	1	0
FLT1	2321	broad.mit.edu	37	13	28880827	28880827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:28880827G>A	uc001usb.3	-	28	4088	c.3803C>T	c.(3802-3804)tCg>tTg	p.S1268L	FLT1_uc010aap.2_Missense_Mutation_p.S273L|FLT1_uc010aaq.2_Missense_Mutation_p.S393L|FLT1_uc001usa.3_Missense_Mutation_p.S486L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1268					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AATCTTGAGCGAGGCCTTGGG	0.532000														51			5		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919962	48919962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48919962C>T	uc010slu.2	+	0	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GAGATGCCATCCCTCCTCCCT	0.498000														75			8		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909254	123909254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123909254G>A	uc001pzq.1	-	0	455	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	152					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)		AGAGTGCAGAGAGCCACTGAG	0.562000														105			11		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17619441	17619441	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17619441C>A	uc002zmf.3	-	7	963	c.935_splice	c.e7+1	p.G312_splice	CECR5_uc002zmh.3_Splice_Site_p.G282_splice	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	312							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AGAGCCTACCCCACAGCATAG	0.572000														165			6		1	1	1	1	0
FAM26F	441168	broad.mit.edu	37	6	116784811	116784811	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116784811G>A	uc003pwv.3	+	2	986	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	297						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		GAGATACGGTGATTCCTGTTC	0.373000														152			17		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003912	228003912	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228003912C>T	uc001hrh.3	+	1	270	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTCCATCCTCAATGAGTACT	0.667000														94			11		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540236	103540236	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103540236T>A	uc001dum.3	-	3	907	c.589A>T	c.(589-591)Att>Ttt	p.I197F	COL11A1_uc001dul.3_Missense_Mutation_p.I197F|COL11A1_uc001dun.3_Missense_Mutation_p.I197F|COL11A1_uc009weh.3_Missense_Mutation_p.I197F	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	197	TSP N-terminal.				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			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)		GTATCAACAATTGCTCTCTCA	0.373000														8			3		0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749972	24749972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:24749972C>T	uc010kus.1	-	5	821	c.733G>A	c.(733-735)Gag>Aag	p.E245K	DFNA5_uc003sxa.1_Missense_Mutation_p.E245K|DFNA5_uc010kut.1_Missense_Mutation_p.E81K	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	245					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TTCTTGTTCTCGAAGCCACCT	0.488000														62			14		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476108	21476108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:21476108G>A	uc002npq.1	-	3	1858	c.1660C>T	c.(1660-1662)Cat>Tat	p.H554Y	ZNF708_uc002npr.1_Missense_Mutation_p.H490Y|ZNF708_uc010ecs.1_Missense_Mutation_p.H490Y	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCTTTGGTATGAATTCTCTTA	0.318000														31			4		0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103041538	103041539	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:103041538_103041539CC>TT	uc010nov.3	+	3	616_617	c.336_337CC>TT	c.(334-339)ggcctg>ggTTtg	p.112_113GL>GL	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Silent_p.112_113GL>GL|PLP1_uc004elj.3_Silent_p.112_113GL>GL|PLP1_uc011msf.2_Silent_p.57_58GL>GL|PLP1_uc010now.1_Silent_p.116_117GL>GL|PLP1_uc010nox.3_Silent_p.66_67GL>GL	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	112					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GCGGCAAGGGCCTGAGCGCAAC	0.579000														53			12		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76991953	76991953	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76991953G>T	uc003ugf.3	-	12	975	c.896C>A	c.(895-897)cCg>cAg	p.P299Q	PION_uc003ugg.1_Missense_Mutation_p.P84Q	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	299					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	p.P299P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCACACTTCGGGCTGTAACA	0.313000														9			3		1	1	1	1	0
SLC6A3	6531	broad.mit.edu	37	5	1441490	1441490	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:1441490G>A	uc003jck.3	-	2	528	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	134					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)	GTATGGGGCAGATCTTCCAGA	0.582000														74			11		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878184	2878184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2878184C>T	uc002lwp.1	+	3	1315	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	ZNF556_uc002lwq.3_Missense_Mutation_p.L409F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TTCAGGCGGGCTTTGCTCTTC	0.453000														113			5		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467317	10467317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10467317C>T	uc003wtc.3	-	3	4520	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1431					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)		CTTCCTGCTTCCTCCTCCTGG	0.617000														278			18		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153141286	153141286	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153141286G>A	uc004fjb.3	-	0	114	c.6C>T	c.(4-6)gtC>gtT	p.V2V	L1CAM_uc004fjc.3_Silent_p.V2V|L1CAM_uc010nuo.3_Silent_p.V2V|L1CAM_uc022chz.1_Silent_p.V2V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	2					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)					GCAGCGCCACGACCATCTTTC	0.692000											OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		23			10		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021832	132021832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132021832C>T	uc002tsn.2	+	14	2856	c.2804C>T	c.(2803-2805)tCc>tTc	p.S935F	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S535F|POTEE_uc002tsl.2_Missense_Mutation_p.S517F|POTEE_uc010fmy.1_Missense_Mutation_p.S399F	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	935	Actin-like.						ATP binding										TCCAGCTCCTCCCTAGAGAAG	0.627000														171			20		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992375	72992375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72992375G>A	uc002fck.3	-	1	2343	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	557					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACAACAAAGGAAGAAGCAGA	0.512000														62			6		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39934281	39934281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39934281G>A	uc002rrt.3	+	2	687	c.607G>A	c.(607-609)Gag>Aag	p.E203K	TMEM178_uc021vgg.1_Missense_Mutation_p.E21K|TMEM178_uc010fam.2_Intron	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	203						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				CTTCTGGGAGGAGAGCTTGAC	0.567000														35			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13829790	13829790	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13829790C>T	uc003jfd.2	-	37	6315	c.6273G>A	c.(6271-6273)caG>caA	p.Q2091Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2091	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGGAGTTCCTGCCGTCCGG	0.428000									Kartagener syndrome					16			3		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998949	83998949	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83998949C>T	uc002fha.3	+	6	1020	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	OSGIN1_uc002fhb.3_Silent_p.I257I|OSGIN1_uc002fhc.3_Silent_p.I257I	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	340					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCTGGGCATCCCCGGGGAGG	0.697000														55			4		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231186	7231186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:7231186G>A	uc010wzk.2	+	0	50	c.50G>A	c.(49-51)aGg>aAg	p.R17K		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	17										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						GGCCCCAAGAGGATGCTGTTC	0.632000														67			4		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33700389	33700389	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33700389C>T	uc002num.2	-	9	1413	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V	SLC7A10_uc002nul.2_Silent_p.V269V	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	422					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TGAGAAGGTTCACCTGGGGAA	0.607000														49			7		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344539	53344539	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53344539G>A	uc002qaf.3	-	3	1159	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	ZNF468_uc002qae.3_Silent_p.F283F|ZNF468_uc021uzb.1_Silent_p.F283F	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AATTATATGCGAAAGCCTCAT	0.363000														30			6		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18888006	18888006	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18888006C>T	uc010ebv.3	+	14	1855	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	CRTC1_uc002nkb.4_Silent_p.L573L|CRTC1_uc010ebw.3_Silent_p.L409L	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	573					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCCCAGCCTCTCTAAAGAAC	0.632000														71			8		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301751	301751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:301751G>A	uc001qhz.3	-	15	2258	c.1594C>T	c.(1594-1596)Ccg>Tcg	p.P532S	SLC6A12_uc001qhy.3_Missense_Mutation_p.P88S|SLC6A12_uc001qia.3_Missense_Mutation_p.P532S|SLC6A12_uc001qib.3_Missense_Mutation_p.P532S|SLC6A12_uc009zdh.2_Missense_Mutation_p.P532S	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	532					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCCCAGGGCGGGTACACATAG	0.562000														101			11		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466082	10466082	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10466082C>T	uc003wtc.3	-	3	5755	c.5526G>A	c.(5524-5526)ggG>ggA	p.G1842G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1842					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)		GCTGGGCCTCCCCTTCAGCCT	0.627000														186			21		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761669	131761669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131761669C>T	uc021qav.1	-	1	312	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	EBF3_uc001lki.2_Missense_Mutation_p.E85K|EBF3_uc010qur.1_Missense_Mutation_p.E71K	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	85					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGGTCCTTTCAATCTCCACC	0.557000														147			13		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73728000	73728000	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73728000C>T	uc002jpg.3	+	10	1510	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	ITGB4_uc002jph.3_Silent_p.S441S|ITGB4_uc010dgo.3_Silent_p.S441S|ITGB4_uc002jpi.4_Silent_p.S441S|ITGB4_uc010dgp.1_Silent_p.S441S|ITGB4_uc002jpj.3_Silent_p.S441S|ITGB4_uc010wsh.1_5'UTR	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	441					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCCTTCTCCGACGGCCTCA	0.637000														57			4		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416420	48416420	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48416420G>A	uc001jfa.1	-	0	434	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	92					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CTGTTGTACAGGTCAATCATG	0.572000														70			13		0	0	1	0	0
SDCBP2	27111	broad.mit.edu	37	20	1291460	1291460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1291460C>T	uc021vzn.1	-	7	867	c.808G>A	c.(808-810)Gag>Aag	p.E270K	SDCBP2_uc021vzo.1_Missense_Mutation_p.E270K|SDCBP2_uc002weu.4_Missense_Mutation_p.E185K|SDCBP2_uc002wev.4_Missense_Mutation_p.E270K	NM_001199784	NP_001186713	Q9H190	SDCB2_HUMAN	Homo sapiens syndecan binding protein (syntenin) 2 (SDCBP2), transcript variant 3, mRNA.	270					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						ACCATGTGCTCGTAGATCACA	0.582000														63			4		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5215583	5215583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5215583G>A	uc002mbv.3	-	26	4354	c.4120C>T	c.(4120-4122)Ccc>Tcc	p.P1374S	PTPRS_uc002mbu.1_Missense_Mutation_p.P943S|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.P1336S|PTPRS_uc002mbx.3_Missense_Mutation_p.P931S|PTPRS_uc002mby.3_Missense_Mutation_p.P927S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1374					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCTGCGATGGGAATTGGCGGG	0.672000														62			8		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448549	52448549	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52448549C>T	uc002pxz.2	+	5	1877	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	ZNF613_uc002pya.2_Silent_p.L435L	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGTCAGGTCTCATTAACCACC	0.428000														30			7		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138429969	138429969	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138429969G>A	uc003vuf.3	-	12	1615	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	ATP6V0A4_uc003vug.3_Silent_p.S459S|ATP6V0A4_uc003vuh.3_Silent_p.S459S	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	459					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						CCGTGTAGATGGAGAAGATGC	0.488000														62			19		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987925	50987925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50987925G>A	uc003bmi.3	+	0	1464	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	444										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTGGCCCACGAGGCTGTGGC	0.672000														101			19		0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986993	46986993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:46986993C>T	uc021vgx.1	+	0	1324	c.1324C>T	c.(1324-1326)Cat>Tat	p.H442Y	SOCS5_uc002rvf.3_Missense_Mutation_p.H442Y|SOCS5_uc002rvg.3_Missense_Mutation_p.H442Y	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	442	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTTCGACGCCCATGACCCGTG	0.463000														43			11		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280821	17280821	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17280821C>T	uc002zlv.3	-	2	527	c.429G>A	c.(427-429)acG>acA	p.T143T	XKR3_uc011agf.2_Silent_p.T143T	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	143			T -> M (in dbSNP:rs5748648).			integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCCAGCATCGTGTTTCTCT	0.403000														61			6		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719261	52719261	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52719261C>T	uc002pyp.3	+	7	1222	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PPP2R1A_uc010ydk.2_Silent_p.F254F|PPP2R1A_uc010epm.1_Silent_p.F349F|PPP2R1A_uc002pyq.3_Silent_p.F130F	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	309	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCACAGAGTTCTGTGAAAACC	0.542000			Mis		clear cell ovarian carcinoma									50			7		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270122	36270122	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36270122C>T	uc010jwf.2	+	5	1260	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	PNPLA1_uc010jwe.1_Silent_p.P334P|PNPLA1_uc003olw.1_Silent_p.P325P	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	420	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTCAGGCACCCACTTCACCCA	0.607000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			9		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368576	40368576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40368576C>T	uc002omp.4	-	27	12780	c.12772G>A	c.(12772-12774)Gaa>Aaa	p.E4258K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4258	VWFD 10.					extracellular region	protein binding	p.D4257D(1)		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)			CCCCGACATTCGTCCCAACAC	0.647000														68			10		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011608	140011608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140011608C>T	uc003lgi.2	-	1	1340	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CD14_uc003lgj.2_Missense_Mutation_p.V321M|CD14_uc021yej.1_Missense_Mutation_p.V321M|CD14_uc021yek.1_Missense_Mutation_p.V321M|CD14_uc021yel.1_Missense_Mutation_p.V190M	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	321					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTTATCCACCTCGGGCAGC	0.627000														19			4		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222738	72222738	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:72222738C>T	uc010iic.3	+	5	681	c.564C>T	c.(562-564)gaC>gaT	p.D188D	SLC4A4_uc003hfy.3_Silent_p.D188D|SLC4A4_uc010iib.3_Silent_p.D188D|SLC4A4_uc003hfz.3_Silent_p.D188D|SLC4A4_uc003hgc.4_Silent_p.D144D|SLC4A4_uc003hga.2_Silent_p.D66D|SLC4A4_uc003hgb.3_Silent_p.D144D	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	188						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGATTGTTGACCATCAGATTG	0.393000														31			7		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171384	150171384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150171384G>A	uc003whj.3	+	3	1297	c.967G>A	c.(967-969)Ggc>Agc	p.G323S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	323						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CATCTGTACAGGCCCCCATGC	0.428000														37			5		0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878166	39878166	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39878166C>T	uc009vvt.1	+	0	2991	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	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.	607										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)			ACAGAAACTTCCCAGAGCAGG	0.488000														63			8		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41767678	41767678	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41767678T>C	uc003ori.3	-	6	1784	c.1562_splice	c.e6-1	p.S521_splice		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	521					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCGTTTGCCTATGTGGTTTG	0.433000														91			4		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121563788	121563788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:121563788C>T	uc001leo.3	+	9	1436	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	407	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACTTACGTTTCGTTTGACTTC	0.428000														55			6		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612007	53612007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53612007G>A	uc002qax.3	-	6	1784	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	ZNF415_uc010yds.2_Missense_Mutation_p.R431W|ZNF415_uc010ydt.2_Missense_Mutation_p.R431W|ZNF415_uc002qau.3_Missense_Mutation_p.R418W|ZNF415_uc002qav.3_Missense_Mutation_p.R443W|ZNF415_uc002qaw.3_Missense_Mutation_p.R431W|ZNF415_uc002qay.3_Missense_Mutation_p.R418W|ZNF415_uc002qaz.3_Missense_Mutation_p.R479W|ZNF415_uc002qba.3_Missense_Mutation_p.R201W			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAACTCTCCGATGACTCGCA	0.423000														63			5		0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41262768	41262768	+	Silent	SNP	C	T	T	rs121917767		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:41262768C>T	uc003gvo.3	+	3	375	c.279C>T	c.(277-279)atC>atT	p.I93I	UCHL1_uc003gvp.3_Silent_p.I12I	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	93			I -> M (in PARK5; impaired enzymatic hydrolase activity; has about a 50% reduction in catalytic activity compared to wild-type protein).		cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GTGGCACAATCGGACTTATTC	0.443000														84			7		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499346	150499346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150499346G>A	uc003whx.1	+	2	296	c.218G>A	c.(217-219)gGa>gAa	p.G73E	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	73						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCCTAGGAGGATTTTTCTAC	0.572000														68			4		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17942510	17942510	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17942510G>A	uc002nhn.4	-	19	2878	c.2778C>T	c.(2776-2778)ctC>ctT	p.L926L	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.L926L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	926	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AATAGAGAAGGAGGCGGCTGG	0.697000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									21			5		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090415	111090415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:111090415C>T	uc004epl.1	-	5	2546	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	TRPC5_uc004epm.1_Missense_Mutation_p.E543K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	543					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTCTGGTTTCATAATAGAAG	0.433000														39			6		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947785	35947785	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35947785C>T	uc003anx.3	+	2	712	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RASD2_uc003any.3_Silent_p.F169F	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	169					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						GCGCCTACTTCGAGGTGTCGG	0.622000														27			7		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43416877	43416877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43416877C>T	uc003ouy.1	+	19	4353	c.4138C>T	c.(4138-4140)Cgg>Tgg	p.R1380W	ABCC10_uc003ouz.1_Missense_Mutation_p.R1352W|ABCC10_uc010jyo.1_Missense_Mutation_p.R486W	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1380	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGAGGGGGGCCGGAGCTTATC	0.582000														95			6		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236862	42236862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42236862C>T	uc003ose.2	-	4	1030	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	TRERF1_uc011duq.1_Missense_Mutation_p.R156Q|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003osd.2_Missense_Mutation_p.R156Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	156					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACCTGAATTCGCAGGTTTTG	0.567000														189			32		0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313430	18313430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18313430G>A	uc002nie.2	-	1	290	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C		NM_002866	NP_002857	P20336	RAB3A_HUMAN	Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA.	41					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCAGCATAGCGGAAGAGGAAG	0.542000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		157			21		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3389976	3389976	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3389976C>T	uc001akg.4	+	7	1443	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	ARHGEF16_uc001aki.3_Nonsense_Mutation_p.R111*|ARHGEF16_uc001akj.3_Nonsense_Mutation_p.R111*|ARHGEF16_uc009vli.1_Nonsense_Mutation_p.R103*|ARHGEF16_uc010nzh.2_Nonsense_Mutation_p.R103*	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	399	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGCCGCCTTCCGAGAGGCCCT	0.652000														83			7		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381988	57381988	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57381988C>T	uc001nkp.1	+	7	1628	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	SERPING1_uc010rju.1_Silent_p.F427F|SERPING1_uc010rjv.1_Silent_p.F484F|SERPING1_uc001nkr.1_Silent_p.F479F|SERPING1_uc001nks.1_Silent_p.F170F	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	479					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTTCCTCTTCGTGCTCTGGG	0.617000														41			8		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529212	6529212	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6529212C>A	uc001anp.1	-	19	2868	c.2370G>T	c.(2368-2370)gaG>gaT	p.E790D	PLEKHG5_uc001ann.1_Missense_Mutation_p.E750D|PLEKHG5_uc001ano.1_Missense_Mutation_p.E769D|PLEKHG5_uc001anq.1_Missense_Mutation_p.E790D|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.E274D|PLEKHG5_uc009vma.1_Missense_Mutation_p.E553D|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E782D|PLEKHG5_uc001ank.1_Missense_Mutation_p.E713D|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E713D|PLEKHG5_uc001anl.1_Missense_Mutation_p.E713D|PLEKHG5_uc001anm.1_Missense_Mutation_p.E713D	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	769					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcttcctcctcctgct	0.637000														121			17		6.94344e-10	7.03974e-10	1	1	0
FUT1	2523	broad.mit.edu	37	19	49254056	49254056	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49254056G>A	uc002pkk.3	-	3	1458	c.483C>T	c.(481-483)ttC>ttT	p.F161F	FUT1_uc021uwy.1_Silent_p.F161F	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	161					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGAGCTTCAGGAAAGGATCTC	0.612000														199			8		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313642	233313642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233313642G>A	uc001hvl.2	-	16	3414	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1060						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTGGATGAAGGACCTGAAAGT	0.418000														21			5		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914689	39914689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39914689C>T	uc002hxq.2	-	9	2012	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.E579K|JUP_uc002hxs.2_Missense_Mutation_p.E579K	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	579					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGGAAGATCTCCATGCGGTTC	0.612000														51			11		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30672323	30672323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30672323G>A	uc002wxh.3	+	7	1049	c.812G>A	c.(811-813)gGg>gAg	p.G271E	HCK_uc010gdy.3_Missense_Mutation_p.G251E|HCK_uc021wbv.1_Missense_Mutation_p.G250E|HCK_uc002wxi.3_Missense_Mutation_p.G249E	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	271	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTGGAGCTGGGCAGTTTGGG	0.602000														43			6		0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25669550	25669550	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25669550C>T	uc001bke.3	+	2	364	c.192C>T	c.(190-192)acC>acT	p.T64T	TMEM50A_uc010oeq.2_Silent_p.T64T|TMEM50A_uc009vrr.3_Intron|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	64						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTATAGCAACCATAGCCTTCC	0.348000														71			5		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961236	1961236	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1961236C>T	uc010gaj.3	-	2	740	c.498G>A	c.(496-498)gaG>gaA	p.E166E	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.E166E|PDYN_uc021vzt.1_Silent_p.E166E|PDYN_uc021vzu.1_Silent_p.E166E|PDYN_uc002wfv.3_Silent_p.E166E	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	166					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTGGGGTCCTCCTCAGCGA	0.597000														68			6		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90428507	90428507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90428507C>T	uc001kfg.2	+	3	530	c.416C>T	c.(415-417)gCt>gTt	p.A139V	LIPF_uc009xtk.3_Missense_Mutation_p.A139V|LIPF_uc001kfh.2_Missense_Mutation_p.A116V|LIPF_uc010qmt.2_Missense_Mutation_p.A149V|LIPF_uc010qmu.2_Missense_Mutation_p.A106V	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	139					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GAATTCTGGGCTTTCAGGTAA	0.423000														22			3		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494445	20494445	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20494445G>T	uc010bwe.3	+	13	1814	c.1575G>T	c.(1573-1575)aaG>aaT	p.K525N	ACSM2A_uc002dhf.4_Missense_Mutation_p.K525N|ACSM2A_uc002dhg.4_Missense_Mutation_p.K525N|ACSM2A_uc010vay.2_Missense_Mutation_p.K446N|ACSM2A_uc002dhh.4_Missense_Mutation_p.K155N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	525					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCTCACCAAGGAGCTGCAGC	0.498000														64			5		0.000602214	0.000607816	1	1	0
UBASH3B	84959	broad.mit.edu	37	11	122666886	122666886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122666886C>T	uc001pyi.4	+	7	1496	c.1136C>T	c.(1135-1137)cCc>cTc	p.P379L		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	379						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AACAGCCAGCCCGGCCCCCAG	0.547000											OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			14		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087194	39087194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:39087194C>T	uc011aej.1	-	2	319	c.266G>A	c.(265-267)tGg>tAg	p.W89*	KCNJ6_uc002ywo.2_Nonsense_Mutation_p.W89*	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	89					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTTGAATCTCCACTTCAGGTC	0.463000														76			18		0	0	1	0	0
LINC00482	284185	broad.mit.edu	37	17	79278553	79278554	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79278553_79278554GG>AA	uc002kac.1	-	3	1040_1041	c.611_612CC>TT	c.(610-612)ccc>cTT	p.P204L						Homo sapiens long intergenic non-protein coding RNA 482 (LINC00482), non-coding RNA.																		CTCTGGTCCAGGGGCCTGGGTT	0.683000														11			3		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402392	33402392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:33402392G>A	uc003amx.3	-	0	418	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SYN3_uc003amy.3_Missense_Mutation_p.P86S|SYN3_uc003amz.3_Missense_Mutation_p.P86S	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	86	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T85T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGAACAATGGGCGTGGAGGGA	0.557000														113			17		0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081442	126081442	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:126081442A>T	uc001qde.3	-	0	146	c.92T>A	c.(91-93)tTt>tAt	p.F31Y	FAM118B_uc001qdf.3_5'Flank|FAM118B_uc009zca.3_5'Flank|RPUSD4_uc009zbz.3_Missense_Mutation_p.F31Y	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	31					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		AGCGGCACAAAATGGCTTTGA	0.607000														185			16		0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21871530	21871530	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:21871530C>T	uc004dae.3	+	4	776	c.579C>T	c.(577-579)ctC>ctT	p.L193L	MBTPS2_uc010nfr.3_5'UTR|MBTPS2_uc004dab.2_Silent_p.L193L|YY2_uc011mjp.2_5'Flank	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	193					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGATTTTTCTCTTCATTATTT	0.333000														35			5		0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100919445	100919445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:100919445C>T	uc002tal.4	-	2	1499	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	287					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TAGAGAAATTCCTTTAACACT	0.393000														57			13		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128843	3128843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3128843G>A	uc021vzx.1	-	0	874	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.R292C	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	292					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GATACCTGACGATTTTCACCT	0.343000														69			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106539229	106539229	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106539229C>T	uc021ser.1	-	2082		c.37917G>A								Parts of antibodies, mostly variable regions.																		TCATCCATCCCATCCACTCAA	0.532000														41			7		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16256934	16256934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:16256934C>T	uc002den.4	-	23	3459	c.3422G>A	c.(3421-3423)cGa>cAa	p.R1141Q	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1141	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGCCTGGGTTCGGAATGCCCG	0.597000														93			9		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793022	31793022	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31793022G>A	uc003tcm.2	-	17	2567	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	PDE1C_uc003tcn.1_Silent_p.I702I|PDE1C_uc003tco.2_Silent_p.I762I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	702					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.I702I(1)|p.I762I(1)		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)			AGTTATGTGAGATGTTCTGAA	0.473000														90			8		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660824	40660824	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40660824C>T	uc001zlk.1	+	7	2600	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	837					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGCTGTGTTTCGTGGAGACCC	0.692000														25			5		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545435	94545435	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94545435G>A	uc001ycj.3	-	1	753	c.654C>T	c.(652-654)atC>atT	p.I218I	DDX24_uc010twq.2_Silent_p.I175I|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	218					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCAGGGCTTGGATTGGTGTGG	0.547000														102			6		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679021	37679021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:37679021C>T	uc001uwm.1	-	0	781	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	125	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TGCACGTATTCAATTCTGCTG	0.408000														46			5		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873621	2873621	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2873621G>A	uc002lwp.1	+	2	217	c.130_splice	c.e2+1	p.D44_splice	ZNF556_uc002lwq.3_Splice_Site_p.D44_splice	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GCCTCAGTAGGTGAGGATAGC	0.463000														78			9		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888752	23888752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23888752C>T	uc001wjx.3	-	27	3899	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1265					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCTGGGTCTCCTCCGCCTTG	0.562000														105			11		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079738	44079738	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44079738G>A	uc002rtq.3	+	6	785	c.695_splice	c.e6-1	p.G232_splice	ABCG8_uc010yoa.2_Splice_Site_p.G232_splice	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	232	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTGGAAAGGAATCCTTATT	0.622000														214			83		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45748058	45748058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45748058G>A	uc003tne.4	+	17	2945	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	976					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)	TTTGTCCTCCGAGTTGGTATG	0.512000														69			8		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775087	231775087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231775087C>T	uc021vxz.1	-	0	591	c.591G>A	c.(589-591)atG>atA	p.M197I	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.M197I|GPR55_uc010fxs.1_Missense_Mutation_p.M197I	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	197					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGCAGAAGCCCATGATGCCCA	0.567000														96			9		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118228050	118228050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:118228050G>A	uc004era.4	-	8	1276	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	426										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						CACACTGGAAGGCCACGAATC	0.483000														4			5		0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127298661	127298661	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127298661G>A	uc003ejn.2	-	2	513	c.180C>T	c.(178-180)ttC>ttT	p.F60F	TPRA1_uc003ejl.2_Silent_p.F60F|TPRA1_uc010hsk.2_Silent_p.F60F|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	60					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCCAGAGCAGGAAGATGAGGA	0.567000														38			4		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073013	134073013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:134073013C>T	uc004cag.3	+	28	4243	c.4132C>T	c.(4132-4134)Ccg>Tcg	p.P1378S	NUP214_uc004cah.3_Missense_Mutation_p.P1368S|NUP214_uc004cai.3_Missense_Mutation_p.P808S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P204S|NUP214_uc011mcf.1_Missense_Mutation_p.P155S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1378	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		P -> L (in a breast cancer sample; somatic mutation).		carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.P1378L(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TACTGCCCCCCCGGTGTTAGG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									54			4		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659835	74659835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74659835C>T	uc002axt.2	-	0	247	c.92G>A	c.(91-93)aGg>aAg	p.R31K	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.R31K	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	31					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGTGGGCACCCTGAGACGCCC	0.637000														65			7		0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77895944	77895944	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77895944G>A	uc022awg.1	-	0	471	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PEX2_uc003yax.3_Silent_p.F157F|PEX2_uc003yay.3_Silent_p.F157F|PEX2_uc022awe.1_Silent_p.F157F|PEX2_uc022awf.1_Silent_p.F157F	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	157					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CCCTCTGAAGGAAAATCAAAA	0.363000														48			5		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25182351	25182351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:25182351G>A	uc003sxn.1	-	7	1328	c.767C>T	c.(766-768)tCa>tTa	p.S256L		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	256										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AGGGTCCCATGAATTTAAAGA	0.393000														50			7		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661819	36661819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661819G>A	uc003ape.3	+	6	1259	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	APOL1_uc011amn.1_Missense_Mutation_p.E190K|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.E190K|APOL1_uc003apf.3_Missense_Mutation_p.E313K|APOL1_uc011amp.2_Missense_Mutation_p.E313K|APOL1_uc011amq.2_Missense_Mutation_p.E295K|APOL1_uc010gwx.3_Missense_Mutation_p.E190K	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	313					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AATCTCAGCTGAAAGCGGTGA	0.562000														73			6		0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005305	1005305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1005305G>A	uc002lqo.1	+	2	1805	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	602					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGCCCCTACGGCCTCACGCCA	0.642000														55			6		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513255	4513255	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4513255G>A	uc002mar.1	-	2	675	c.675C>T	c.(673-675)tcC>tcT	p.S225S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	225	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGCCCAGTGGACACAGCAT	0.572000														145			16		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965848	43965848	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43965848G>A	uc002owl.1	-	4	804	c.696C>T	c.(694-696)tcC>tcT	p.S232S	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	232						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGATTCGAGGGGAGAAGTAGG	0.622000														165			19		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92157894	92157894	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92157894G>A	uc001xzs.1	-	9	977	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	279					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTCTGCCCTGGAAAACTAGA	0.333000														34			5		0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135712019	135712019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:135712019C>T	uc002tuc.2	+	8	2027	c.1994C>T	c.(1993-1995)cCc>cTc	p.P665L	CCNT2_uc010zbf.2_Intron|CCNT2_uc002tub.2_Intron|CCNT2_uc002tud.2_Missense_Mutation_p.P328L	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	665	Poly-Pro.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TTTAACCATCCCTTACCCCCT	0.478000														49			6		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293628	29293628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:29293628G>A	uc002rmt.2	-	0	3500	c.3500C>T	c.(3499-3501)tCa>tTa	p.S1167L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1167					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCAAGGCCCTGAGCTGTTCTT	0.637000														42			19		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3677988	3677988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:3677988G>A	uc001qmf.3	+	4	965	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	PRMT8_uc009zed.3_Missense_Mutation_p.V191M|PRMT8_uc009zee.1_Non-coding_Transcript|PRMT8_uc001qmg.3_Missense_Mutation_p.V14M	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	200					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.T199T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTCAACACGGTGATCTTTGC	0.577000														69			9		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276890	71276890	+	Missense_Mutation	SNP	C	T	T	rs36179995		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71276890C>T	uc001oqt.1	+	0	282	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	86	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGTTCCTGTGGGGGC	0.687000														119			9		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741629	52741629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:52741629C>T	uc001wzq.3	+	1	1129	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	343						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATTAGACCTCTTAGGTACAG	0.388000														9			4		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757513	242757513	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242757513C>T	uc002wcp.2	+	3	1127	c.633C>T	c.(631-633)ttC>ttT	p.F211F	NEU4_uc010fzr.3_Silent_p.F198F|NEU4_uc002wcm.3_Silent_p.F198F|NEU4_uc002wco.2_Silent_p.F198F|NEU4_uc002wcn.2_Silent_p.F210F	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	198						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTCACTCCTTCGCCTTCTACA	0.687000														23			4		0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60264994	60264994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60264994G>A	uc001npr.3	+	1	260	c.203G>A	c.(202-204)gGa>gAa	p.G68E	MS4A12_uc009ynb.3_Missense_Mutation_p.G68E|MS4A12_uc021qkb.1_Missense_Mutation_p.G68E	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	68						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CCGGGTCAAGGAAATATACAA	0.433000														29			7		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67147886	67147886	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:67147886C>T	uc001xiy.3	+	1	1247	c.126C>T	c.(124-126)ctC>ctT	p.L42L	GPHN_uc001xiw.3_Silent_p.L42L|GPHN_uc001xix.3_Silent_p.L42L|GPHN_uc010tss.2_Silent_p.L42L|GPHN_uc010tst.2_Silent_p.L42L	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	42	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.L42L(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCAAAGATCTCGTACAAGATC	0.299000			T	MLL	AL									14			3		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57012110	57012110	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57012110G>A	uc002eki.2	+	10	1146	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V	CETP_uc002ekj.2_Silent_p.V303V	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	363					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	p.V363M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CAGTGATGGTGAAATTCCTCT	0.557000														125			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166824	140166824	+	Missense_Mutation	SNP	G	A	A	rs143010606		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140166824G>A	uc003lhb.2	+	0	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	PCDHAC2_uc003lha.2_Missense_Mutation_p.E317K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E317K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	332	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E317K(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)			AAAATCCTACGAAATTCAAGT	0.353000														47			9		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84067056	84067056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84067056G>A	uc002fhg.1	-	2	407	c.407C>T	c.(406-408)tCt>tTt	p.S136F		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	136					amino acid transport|sodium ion transport	integral to membrane		p.L135M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGGGGTGCCAGACAGGAGGGA	0.682000														41			5		0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50357706	50357706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50357706C>T	uc002pqf.1	+	1	385	c.215C>T	c.(214-216)tCc>tTc	p.S72F	LOC100506033_uc002ppy.4_5'Flank|PTOV1_uc010ybf.2_Missense_Mutation_p.S40F|PTOV1_uc002pqb.4_Missense_Mutation_p.S40F|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript|MIR4749_uc021uxw.1_5'Flank	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ATCGGTCCCTCCTCACCTGGG	0.667000														125			20		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136964008	136964008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:136964008C>T	uc010jek.3	-	12	2013	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	KLHL3_uc011cyc.2_Missense_Mutation_p.M258I|KLHL3_uc003lbr.4_Missense_Mutation_p.M441I|KLHL3_uc011cyd.2_Non-coding_Transcript	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	523						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)		GGCACATGTTCATGTCTGCCA	0.542000														104			8		0	0	1	0	0
JAZF1	221895	broad.mit.edu	37	7	28220125	28220125	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28220125G>A	uc003szn.3	-	0	313	c.72C>T	c.(70-72)ccC>ccT	p.P24P	JAZF1-AS1_uc011jzq.2_5'UTR	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	24					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGGCCAGGGTGGGGAAGTGGA	0.672000			T	SUZ12	endometrial stromal tumours									452			54		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169206001	169206001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:169206001C>T	uc003irp.3	-	11	1823	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	511							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)		CTGTCATAATCATCACTCAGG	0.368000														32			4		0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988994	64988994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64988994G>A	uc021rul.1	+	0	772	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ZBTB1_uc001xhh.4_Missense_Mutation_p.D258N|ZBTB1_uc010aqg.3_Missense_Mutation_p.D258N|ZBTB1_uc001xhi.2_Missense_Mutation_p.D258N|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGATATTAGAGATGGAAAAGA	0.358000														20			4		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035853	37035853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:37035853C>T	uc002rpl.3	+	14	1930	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	VIT_uc002rpm.3_Missense_Mutation_p.S528F|VIT_uc010ezv.3_Missense_Mutation_p.S506F|VIT_uc010ezw.3_Missense_Mutation_p.S507F	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	528	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTTGAGATTTCCGACACGGAC	0.582000														73			6		0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97443350	97443350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:97443350G>A	uc001klb.4	-	9	1376	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	TCTN3_uc010qoi.2_Missense_Mutation_p.P230S|TCTN3_uc001kld.3_Missense_Mutation_p.P396S|TCTN3_uc009xux.1_Missense_Mutation_p.P200S|TCTN3_uc009xuy.1_Non-coding_Transcript	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA.	378					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CCACTTCTAGGACTGGTGAGA	0.463000														58			6		0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39435916	39435916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39435916C>T	uc003cjo.2	+	5	1042	c.641C>T	c.(640-642)aCc>aTc	p.T214I		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	214					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTGGATGCAACCCTTATTCCT	0.408000														123			17		0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273637	212273637	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:212273637G>A	uc009xdc.3	+	13	1619	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	DTL_uc010ptb.2_Silent_p.R393R|DTL_uc001hiz.4_Silent_p.R164R	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	435					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAGCCCCCAGGGCAAAGTGCA	0.493000														32			5		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138255624	138255624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138255624C>T	uc003vuc.3	+	10	1969	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	TRIM24_uc003vub.3_Missense_Mutation_p.S551F|TRIM24_uc022amn.1_Missense_Mutation_p.S509F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	585					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AACAGCACATCCTCTACTCCT	0.463000														42			9		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367371	2367371	+	Missense_Mutation	SNP	C	T	T	rs148726153		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2367371C>T	uc002cpy.1	-	9	1736	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	ABCA3_uc010bsk.1_Missense_Mutation_p.D342N|ABCA3_uc010bsl.1_Missense_Mutation_p.D342N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	342					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGGAGGGGTCGCTGCGGGAC	0.622000														92			11		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592515	38592515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38592515G>A	uc021wvo.1	-	26	5400	c.5348C>T	c.(5347-5349)aCc>aTc	p.T1783I	SCN5A_uc021wvk.1_Missense_Mutation_p.T1750I|SCN5A_uc021wvl.1_Missense_Mutation_p.T1729I|SCN5A_uc021wvm.1_Missense_Mutation_p.T1765I|SCN5A_uc021wvn.1_Missense_Mutation_p.T1782I|SCN5A_uc021wvp.1_Missense_Mutation_p.T1783I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.T1595I|SCN5A_uc021wvi.1_Missense_Mutation_p.T1649I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1783					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGGGCTCGGTGCTCTCCTC	0.502000														55			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064755	9064755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9064755G>A	uc002mkp.3	-	2	22895	c.22691C>T	c.(22690-22692)tCt>tTt	p.S7564F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7566	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						GGACACTTTAGAAAGAACAGT	0.498000														32			5		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40843438	40843438	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40843438G>A	uc003jmg.3	+	1	543	c.468G>A	c.(466-468)agG>agA	p.R156R		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	156					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTAGTTATAGGGAAACAGCTT	0.418000														19			6		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347402	71347402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71347402C>T	uc011cat.2	+	3	1229	c.941C>T	c.(940-942)tCc>tTc	p.S314F	MUC7_uc011cau.2_Missense_Mutation_p.S314F|MUC7_uc003hfj.3_Missense_Mutation_p.S314F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	314	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCTAATTCTTCCCCAACTACT	0.512000														89			7		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699768	17699768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:17699768C>T	uc002grm.3	+	2	3975	c.3506C>T	c.(3505-3507)cCc>cTc	p.P1169L	RAI1_uc002grn.1_Missense_Mutation_p.P1169L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1169						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCGGCTCCCCAACTGCCGT	0.647000														47			10		0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32853391	32853391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:32853391G>A	uc002rom.3	+	0	305	c.32G>A	c.(31-33)gGa>gAa	p.G11E	TTC27_uc010ymx.2_Intron	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	11							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATTCTGAGGGGATTCCCCACT	0.607000														33			12		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947716	95947716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:95947716C>T	uc002suk.3	+	12	1728	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	PROM2_uc002suh.2_Missense_Mutation_p.S532L|PROM2_uc002sui.3_Missense_Mutation_p.S532L|PROM2_uc002suj.3_Missense_Mutation_p.S186L|PROM2_uc002sul.3_Missense_Mutation_p.S58L|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	532						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAACCTGTCGCAACTTCTT	0.627000														51			5		0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76425163	76425163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:76425163G>A	uc001sxu.3	-	0	394	c.359C>T	c.(358-360)cCc>cTc	p.P120L	PHLDA1_uc021rax.1_Missense_Mutation_p.P120L	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA.	120					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				GCGGGCCGGGGGCAGCAGCAG	0.731000														21			4		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023098	17023098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17023098C>T	uc001azn.1	-	9	1766	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		AACCAAGCTTCCGTTGAGCAG	0.687000														10			3		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35812735	35812735	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35812735C>T	uc003anu.4	+	11	1612	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	MCM5_uc003anv.4_Silent_p.F463F|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Silent_p.F290F	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	506	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	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						ACATTGACTTCATGCCCACCA	0.592000														89			11		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129288798	129288798	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129288798G>A	uc003emx.2	-	19	3853	c.3753C>T	c.(3751-3753)atC>atT	p.I1251I	PLXND1_uc011blb.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1251					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCCCTACCTGGATCTGTGCAG	0.562000														33			6		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31343015	31343015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:31343015C>T	uc002hht.3	-	8	2437	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	ASIC2_uc002hhu.3_Missense_Mutation_p.D471N	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	471					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTCCCTTCGTCCTCCTCTTTG	0.532000														55			10		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290607	132290607	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132290607C>T	uc002tta.3	+	6	1024	c.972C>T	c.(970-972)ttC>ttT	p.F324F	CCDC74A_uc002ttb.3_Silent_p.F258F|CCDC74A_uc021vpq.1_Missense_Mutation_p.S260F|CCDC74A_uc021vpr.1_Silent_p.F321F	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	324										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCACGCATTTCCCCAAGGTCT	0.632000														86			5		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45428767	45428767	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45428767C>T	uc001zus.1	+	9	1312	c.966C>T	c.(964-966)ttC>ttT	p.F322F	DUOX1_uc001zut.1_Silent_p.F322F|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	322	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTCAGAGTTCGTGGCGGCCT	0.577000														73			6		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956219	18956219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18956219G>A	uc001mpg.3	-	0	331	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	38					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V37I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCGACAAGGGAAACGATGCA	0.557000														195			6		0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151146	69151146	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:69151146C>T	uc003dnr.3	+	1	442	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_006407	NP_006398	O75915	PRAF3_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA.	111					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CGAGCTATTTCCTTATCTCCA	0.453000														38			4		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113907	63113907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:63113907G>A	uc001daq.3	-	5	636	c.602C>T	c.(601-603)tCa>tTa	p.S201L	DOCK7_uc001dan.3_Missense_Mutation_p.S93L|DOCK7_uc001dao.3_Missense_Mutation_p.S93L|DOCK7_uc001dap.3_Missense_Mutation_p.S201L|DOCK7_uc009wah.1_Missense_Mutation_p.S201L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	201					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity	p.S201L(2)|p.S201fs*3(1)|p.N200S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCAGGAAGTGAATTTTTCAA	0.393000														40			8		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46771899	46771899	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46771899G>A	uc001ndi.2	-	41	5755	c.5629C>T	c.(5629-5631)Cag>Tag	p.Q1877*	CKAP5_uc009ylg.1_Nonsense_Mutation_p.Q1770*|CKAP5_uc001ndj.2_Nonsense_Mutation_p.Q1817*|CKAP5_uc001ndh.1_Nonsense_Mutation_p.Q806*	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1877					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACATAGCTCTGGAAGAACTGT	0.428000														23			5		0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844472	5844472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5844472G>A	uc002mdk.2	-	1	476	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	FUT3_uc002mdm.2_Missense_Mutation_p.P127S|FUT3_uc002mdj.2_Missense_Mutation_p.P127S|FUT3_uc002mdl.2_Missense_Mutation_p.P127S|FUT3_uc021unn.1_Missense_Mutation_p.P127S	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	127					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGCCCCTGCGGCCTCGGGGAA	0.597000														97			19		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203699	135203699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135203699G>A	uc004cbk.3	-	9	3469	c.3286C>T	c.(3286-3288)Cat>Tat	p.H1096Y	SETX_uc004cbj.3_Missense_Mutation_p.H715Y|SETX_uc010mzt.3_Missense_Mutation_p.H715Y	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1096					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCGTCTGGATGATCTTGCCAA	0.358000														25			5		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717897	142717897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:142717897G>A	uc022cfm.1	-	0	1028	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	SLITRK4_uc022cfl.1_Missense_Mutation_p.P343L|SLITRK4_uc004fbx.3_Missense_Mutation_p.P343L|SLITRK4_uc004fby.3_Missense_Mutation_p.P343L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	343	LRRNT.					integral to membrane		p.P343L(2)|p.P343P(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGGTGCCGGGCAAGGTGT	0.473000														34			12		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611123	139611123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139611123C>T	uc003yvd.3	-	60	4651	c.4204G>A	c.(4204-4206)Ggt>Agt	p.G1402S	COL22A1_uc011ljo.2_Missense_Mutation_p.G682S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1402	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1402V(1)		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)			CCTTTGTCACCTTTGATCCCA	0.577000										HNSCC(7;0.00092)				38			7		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99467231	99467231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:99467231C>T	uc002bul.3	+	11	2662	c.2612C>T	c.(2611-2613)tCa>tTa	p.S871L	IGF1R_uc010bon.3_Missense_Mutation_p.S871L|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	871	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AAATACGGATCACAAGTTGAG	0.483000														92			6		0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40883678	40883678	+	Silent	SNP	G	A	A	rs34106220		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:40883678G>A	uc002yya.3	+	5	750	c.696G>A	c.(694-696)gaG>gaA	p.E232E	SH3BGR_uc002yxz.3_Silent_p.E121E	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	232	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AAGGAGAAGAGCCTGGAGAAG	0.463000														59			20		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626746	232626746	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:232626746G>A	uc001hvg.3	-	2	1838	c.1680C>T	c.(1678-1680)acC>acT	p.T560T		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	560					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTCCTCGTGCGGTACCATGCC	0.453000														23			4		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49948261	49948261	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49948261A>G	uc001ruh.1	+	10	2320	c.2060A>G	c.(2059-2061)gAg>gGg	p.E687G	KCNH3_uc010smj.1_Missense_Mutation_p.E627G	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	687					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.E687K(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						CTGTACCCCGAGTTTGCCCCG	0.632000														82			7		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043209	47043209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47043209C>T	uc003cqp.3	+	29	4854	c.4675C>T	c.(4675-4677)Cgc>Tgc	p.R1559C	NBEAL2_uc010hjm.2_Missense_Mutation_p.R936C|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1559							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTACTTGATCGCCTGGGAGC	0.572000														65			11		0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3597994	3597994	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:3597994T>C	uc002qxt.3	-	3	568	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	RNASEH1_uc002qxs.3_Missense_Mutation_p.I43V	NM_002936	NP_002927	O60930	RNH1_HUMAN	Homo sapiens ribonuclease H1 (RNASEH1), mRNA.	160	RNase H.				RNA catabolic process	cytoplasm	RNA binding|magnesium ion binding|ribonuclease H activity			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TAAACGCCGATTCCTGCTCGC	0.517000														145			15		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922528	140922528	+	Missense_Mutation	SNP	C	T	T	rs144046998		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:140922528C>T	uc003yvh.2	-	19	3136	c.3121G>A	c.(3121-3123)Gac>Aac	p.D1041N	TRAPPC9_uc003yvj.2_Missense_Mutation_p.D943N|TRAPPC9_uc010mel.1_Missense_Mutation_p.D364N|TRAPPC9_uc003yvi.1_Missense_Mutation_p.D934N	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	943					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTGAACTTGTCCACTTGAATA	0.537000														40			10		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28375694	28375694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:28375694G>A	uc001zbj.3	-	81	12723	c.12617C>T	c.(12616-12618)tCc>tTc	p.S4206F		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4206					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)		AGAAAACTGGGATCCGCATTC	0.423000														164			16		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43435585	43435585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:43435585G>A	uc002lbm.3	-	42	7610	c.7510C>T	c.(7510-7512)Cgt>Tgt	p.R2504C		NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2504					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGCCTCAAACGGATCTGATCT	0.483000														36			5		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924400	34924400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:34924400C>T	uc002yse.1	+	2	2912	c.2863C>T	c.(2863-2865)Ccc>Tcc	p.P955S	SON_uc002ysb.1_Missense_Mutation_p.P955S|SON_uc002ysc.3_Missense_Mutation_p.P955S|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P601S|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	955	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGCCATGATCCCTACAGACT	0.483000														72			5		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182403981	182403981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:182403981G>A	uc002unx.3	-	12	1555	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.P459L|CERKL_uc010zfm.2_Missense_Mutation_p.P441L|CERKL_uc002unz.3_Missense_Mutation_p.P207L|CERKL_uc002uoa.3_Missense_Mutation_p.P390L|CERKL_uc002uob.3_Missense_Mutation_p.P207L|CERKL_uc002uoc.3_Missense_Mutation_p.P346L|CERKL_uc021vth.1_Missense_Mutation_p.P254L|CERKL_uc021vti.1_Missense_Mutation_p.P207L|CERKL_uc021vtj.1_Missense_Mutation_p.P162L|CERKL_uc021vtk.1_Missense_Mutation_p.P207L|CERKL_uc021vtl.1_Missense_Mutation_p.P162L|CERKL_uc021vtm.1_Missense_Mutation_p.P254L|CERKL_uc002uod.2_Missense_Mutation_p.P254L|CERKL_uc002unw.3_Missense_Mutation_p.P55L	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	485					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.E484A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTCAACAAATGGAAAATTGAA	0.353000														9			3		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701885	56701885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56701885C>T	uc010ygh.2	-	3	799	c.799G>A	c.(799-801)Gat>Aat	p.D267N		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	267					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTGTCAGCATCCACATTTTCC	0.502000														103			9		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48887386	48887387	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:48887386_48887387CC>TT	uc003xqk.2	+	14	3055_3056	c.2229_2230CC>TT	c.(2227-2232)gcccat>gcTTat	p.H744Y	MCM4_uc003xql.2_Missense_Mutation_p.H744Y|MCM4_uc011ldi.2_Missense_Mutation_p.H731Y	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	744					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			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TAGCAGAAGCCCATGCTAAAGT	0.480000														149			22		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191937867	191937867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:191937867C>T	uc002usm.2	-	4	737	c.422G>A	c.(421-423)aGg>aAg	p.R141K	STAT4_uc002usn.2_Missense_Mutation_p.R141K|STAT4_uc002uso.2_Missense_Mutation_p.R141K	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	141					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CTCCACATTCCTCTGTCTTTC	0.388000														64			4		0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15885240	15885240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:15885240G>A	uc001iod.1	-	2	427	c.206C>T	c.(205-207)tCg>tTg	p.S69L	FAM188A_uc001ioe.1_5'UTR	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	69					apoptosis	nucleus	calcium ion binding	p.S69S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGACTTCTCCGAAGAAAACAG	0.323000														28			5		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618423	122618423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122618423C>T	uc001ubq.3	+	8	1729	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	MLXIP_uc001ubr.3_Missense_Mutation_p.P292S|MLXIP_uc001ubs.1_Missense_Mutation_p.P148S|MLXIP_uc001ubt.3_Missense_Mutation_p.P148S	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TTTTGTGCACCCCAAACCTGT	0.607000														13			3		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114169359	114169359	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:114169359C>T	uc001kzu.3	+	6	907	c.795C>T	c.(793-795)atC>atT	p.I265I	ACSL5_uc001kzs.3_Silent_p.I209I|ACSL5_uc001kzt.3_Silent_p.I209I|ACSL5_uc009xxz.3_Silent_p.I209I|ACSL5_uc010qrj.2_5'UTR	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	209					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGAAGGTGATCATCCTTATGG	0.468000														70			8		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468145	74468145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74468145G>A	uc002axg.1	+	1	1228	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ISLR_uc002axh.1_Missense_Mutation_p.D316N|ISLR_uc021sqf.1_Missense_Mutation_p.D316N	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	316	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCTTATCCCCGACTTTGGCAA	0.662000														62			6		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824107	146824107	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:146824107A>T	uc003ikn.3	-	1	352	c.304T>A	c.(304-306)Tcc>Acc	p.S102T	ZNF827_uc003ikm.3_Missense_Mutation_p.S102T|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTCCCGGGGAAAGGTGATCT	0.587000														45			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068506	9068506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9068506C>T	uc002mkp.3	-	2	19144	c.18940G>A	c.(18940-18942)Gaa>Aaa	p.E6314K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6316	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						AAATAGAATTCATTTGGTGAA	0.463000														42			11		0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152994743	152994743	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:152994743C>T	uc004fif.2	+	1	1356	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	319	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCAACCTCATCCTTCTGG	0.597000														32			19		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599243	6599243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6599243C>T	uc002gdj.3	-	6	945	c.857G>A	c.(856-858)gGc>gAc	p.G286D	SLC13A5_uc010clq.3_Missense_Mutation_p.G243D|SLC13A5_uc002gdk.3_Missense_Mutation_p.G269D|SLC13A5_uc010vtf.2_Missense_Mutation_p.G286D|SLC13A5_uc002gdl.1_Missense_Mutation_p.G268D	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	286						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TAGCCCGCAGCCCCAGGACTT	0.552000														88			5		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61941176	61941176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61941176C>T	uc011aau.2	+	9	1272	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	COL20A1_uc011aav.2_Missense_Mutation_p.S212F	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	391	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTGACCTCCTCCAGCATCCGC	0.692000											OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			3		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228563820	228563820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228563820G>A	uc009xez.1	+	98	22942	c.22898G>A	c.(22897-22899)gGa>gAa	p.G7633E	OBSCN_uc001hsr.1_Missense_Mutation_p.G2262E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7633	Fibronectin type-III 4.				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)				AGCAAGGCAGGAATGGGTCCC	0.642000														58			8		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183387049	183387049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:183387049G>A	uc002uos.3	-	1	139	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.L19F|PDE1A_uc010zfq.1_Missense_Mutation_p.L19F|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	19					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTCCTGTAAGATACTTAAAA	0.403000														20			3		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696053	150696053	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150696053G>A	uc003wif.3	+	7	1132	c.836G>A	c.(835-837)tGg>tAg	p.W279*	NOS3_uc011kuy.2_Nonsense_Mutation_p.W73*|NOS3_uc011kva.2_Nonsense_Mutation_p.W279*|NOS3_uc011kuz.2_Nonsense_Mutation_p.W279*|NOS3_uc011kvb.2_Nonsense_Mutation_p.W279*	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	279	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGCACGGCTGGACCCCAGGA	0.657000														41			7		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178610	96178610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96178610C>T	uc001yfc.4	-	1	374	c.244G>A	c.(244-246)Gga>Aga	p.G82R	TCL1A_uc001yfb.4_Missense_Mutation_p.G82R	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	82					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGGTATCGTCCATCAGGGTAG	0.577000			T	TRA@	T-CLL									133			11		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925486	47925486	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47925486G>A	uc003tny.2	-	17	3037	c.3003C>T	c.(3001-3003)gcC>gcT	p.A1001A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1001	REJ.				cell-cell adhesion	integral to membrane		p.P1000S(1)	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						GAGCTGAAGTGGCAGGTTGGC	0.602000														84			6		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915501	39915501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39915501C>T	uc010xuz.2	+	18	4053	c.3728C>T	c.(3727-3729)tCc>tTc	p.S1243F	PLEKHG2_uc010xuy.2_Missense_Mutation_p.S1184F|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S1021F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1243					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)			CCAGGAGGCTCCTTAGCCTCT	0.587000														164			20		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30624281	30624281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30624281G>A	uc003nqz.3	-	14	2529	c.2317C>T	c.(2317-2319)Cat>Tat	p.H773Y	DHX16_uc003nqy.3_Missense_Mutation_p.H292Y|DHX16_uc011dmo.2_Missense_Mutation_p.H713Y	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	773					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						ATTAGGTCATGGATCCCTAGA	0.537000														52			7		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31018985	31018985	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31018985C>T	uc003aip.2	+	7	1386	c.1137C>T	c.(1135-1137)ccC>ccT	p.P379P	TCN2_uc003air.2_Silent_p.P352P	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	379					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCAGGCCCCTACTTAACCT	0.567000														78			6		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542270	12542270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12542270G>A	uc002mtu.3	-	3	914	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	239					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S239P(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCTTAGATAGGAACTGTAAAA	0.358000														84			11		0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687921	151687921	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:151687921G>A	uc003qoh.3	-	2	415	c.280C>T	c.(280-282)Cga>Tga	p.R94*		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGTTCTAATCGAACCGGGTCG	0.537000														110			8		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27301785	27301785	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27301785C>T	uc003xfn.2	+	27	3019	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	PTK2B_uc022ate.1_Silent_p.F737F|PTK2B_uc003xfp.2_Silent_p.F737F|PTK2B_uc003xfq.2_Silent_p.F737F|PTK2B_uc003xfr.1_Silent_p.F483F	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	737	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGCTGCAGTTCCAGGTAAAGA	0.547000														51			5		0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44408953	44408953	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44408953C>T	uc003cnd.4	+	4	752	c.325C>T	c.(325-327)Cga>Tga	p.R109*	C3orf23_uc010him.3_Nonsense_Mutation_p.R109*|C3orf23_uc003cne.4_Intron	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	109						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TCTAGGATTTCGAGCAGTCAA	0.303000														28			5		0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28294165	28294165	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:28294165G>A	uc003nlc.3	-	3	1388	c.999C>T	c.(997-999)ctC>ctT	p.L333L	ZNF323_uc003nld.3_Silent_p.L333L|ZNF323_uc010jra.3_Silent_p.L333L|ZNF323_uc003nla.3_Silent_p.L333L|ZNF323_uc003nlb.3_Silent_p.L174L|ZNF323_uc010jrb.3_Silent_p.L174L|ZNF323_uc021yrs.1_Silent_p.L333L|ZNF323_uc021yrt.1_Silent_p.L174L	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						ATGAGCTGAGGAGGAAAGCCT	0.502000														126			7		0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98718853	98718853	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:98718853G>T	uc003yhz.3	+	8	1476	c.1148_splice	c.e8-1	p.N383_splice	MTDH_uc010mbf.3_Splice_Site	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	383	Lung-homing for mammary tumors (By similarity).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TTAAATTTTAGATGGTCTGTC	0.373000														48			4		0.150653	0.151351	1	1	0
ITK	3702	broad.mit.edu	37	5	156644904	156644904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156644904C>T	uc003lwo.1	+	4	564	c.482C>T	c.(481-483)cCt>cTt	p.P161L		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	161					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P161S(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCTACTCCTGAAGACAAC	0.507000			T	SYK	peripheral T-cell lymphoma									173			29		0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97679323	97679323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:97679323G>A	uc003ppb.3	-	12	1774	c.1508C>T	c.(1507-1509)cCt>cTt	p.P503L	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.P463L|MMS22L_uc010kcn.1_Missense_Mutation_p.P277L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	503					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGTTTCCAAGGATGAGGGCC	0.343000														24			3		0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10929932	10929932	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:10929932G>A	uc002rau.3	-	7	921	c.783C>T	c.(781-783)atC>atT	p.I261I	PDIA6_uc010yjg.2_Silent_p.I258I|PDIA6_uc002rav.3_Silent_p.I313I|PDIA6_uc010yjh.2_Silent_p.I266I|PDIA6_uc002raw.3_Silent_p.I309I	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	261	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CCCGGGACACGATGTCGGATC	0.453000														67			8		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259208	150259208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150259208C>T	uc001euj.3	+	4	1449	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	C1orf51_uc001euh.3_Missense_Mutation_p.R334C|C1orf51_uc001eui.3_Missense_Mutation_p.R246C	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	334										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAGGGTCCTCGTTGCTACAG	0.552000														95			14		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177809	7177809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7177809C>T	uc001qsj.3	+	14	2640	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	C1S_uc001qsk.3_Missense_Mutation_p.P641S|C1S_uc001qsl.3_Missense_Mutation_p.P641S|C1S_uc009zfr.3_Missense_Mutation_p.P474S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	641	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGTACAGGATCCCAATGACAA	0.532000														113			20		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44269121	44269121	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44269121G>A	uc010jza.1	-	19	2682	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	893					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)		L-Alanine(DB00160)	CACTCACTGAGAGAGACTCAG	0.602000														166			9		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107415744	107415744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107415744C>T	uc004enw.4	-	31	3263	c.3160G>A	c.(3160-3162)Ggg>Agg	p.G1054R	COL4A6_uc004env.4_Missense_Mutation_p.G1053R|COL4A6_uc011msn.2_Missense_Mutation_p.G1053R|COL4A6_uc010npk.3_Missense_Mutation_p.G1053R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1054	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGCGACCCTCTGATACCT	0.488000									Alport syndrome with Diffuse Leiomyomatosis					62			13		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305240	121305240	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121305240C>T	uc003eef.3	+	4	836	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	247						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)		GCTCTTCTTTCCACTGTCTGT	0.468000														53			5		0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67168357	67168357	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67168357C>T	uc002erd.3	+	7	812	c.648C>T	c.(646-648)cgC>cgT	p.R216R	C16orf70_uc002erc.3_Silent_p.R216R|C16orf70_uc002ere.1_3'UTR	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	216										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TACGACTTCGCCTACTTGCTG	0.502000														133			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464920	25464920	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:25464920T>A	uc001isj.3	+	0	631	c.571T>A	c.(571-573)Ttc>Atc	p.F191I	LOC100128811_uc010qde.1_Missense_Mutation_p.K11M	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	191						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCACAGGTCTTCCTCCAGGC	0.682000														20			8		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64636703	64636703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:64636703C>T	uc003dmg.3	-	8	1485	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.E457K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E314K|ADAMTS9_uc003dmk.1_Missense_Mutation_p.E485K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	485	Peptidase M12B.				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)		TCTAAAAACTCAGTGATATAT	0.408000														250			15		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76940676	76940676	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76940676C>T	uc003ugf.3	-	30	2643	c.2564G>A	c.(2563-2565)tGa>tAa	p.*855*	PION_uc011kgo.2_Silent_p.*176*|PION_uc003ugd.3_Silent_p.*249*	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	0					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCTTTTTCATAAGCCTAA	0.368000														37			5		0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40739804	40739804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40739804G>A	uc002onf.3	-	13	1720	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	AKT2_uc010egs.3_Missense_Mutation_p.S431F|AKT2_uc010xvj.2_Missense_Mutation_p.S412F|AKT2_uc010egt.3_Missense_Mutation_p.S412F|AKT2_uc002one.3_Missense_Mutation_p.S370F	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	474	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGCCGAGTAGGAGAACTGGGG	0.622000			A		"""ovarian, pancreatic """									39			5		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808502	48808502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:48808502G>A	uc001zwx.2	-	10	1600	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	402	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGTGGGGGAGGATATTCTGG	0.502000														33			4		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61296383	61296383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61296383C>T	uc002ydb.1	+	5	1424	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	407					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CACGTTCAGCCCCAAGTTCTT	0.572000														130			17		0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27181643	27181643	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27181643C>T	uc003syn.2	-	1	685	c.624G>A	c.(622-624)ctG>ctA	p.L208L	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	208					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTCCAGCTCCAGGGTCTGGT	0.532000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			15		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817214	77817214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:77817214C>T	uc003hki.3	-	0	1789	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	597																	CACTCATGCTCCCTGGCATCT	0.567000														41			10		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84287021	84287021	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:84287021C>T	uc002bjw.3	+	8	1221	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	SH3GL3_uc002bjx.3_Silent_p.I273I|SH3GL3_uc002bju.3_Silent_p.I350I|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	342	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGGAAGTGATCGTGCCTTTAC	0.408000														44			4		0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282993	39282993	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39282993G>A	uc003oor.4	-	4	890	c.876C>T	c.(874-876)ctC>ctT	p.L292L	KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Intron|KCNK16_uc010jwy.3_Intron	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCCGGGATGGAGTGGTCTAA	0.567000														22			4		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51758013	51758013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51758013C>T	uc001ryk.2	-	4	1166	c.941G>A	c.(940-942)aGg>aAg	p.R314K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R314K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	314					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GACTCTGCCCCTCTGGACGGG	0.562000														49			4		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275548	71275548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71275548C>T	uc003hfi.3	+	2	677	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	168	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCAGCACTTCCACAAAACCC	0.512000														39			4		0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925730	118925730	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118925730G>A	uc001puu.2	-	5	655	c.462C>T	c.(460-462)ctC>ctT	p.L154L	HYOU1_uc001put.2_Silent_p.L119L|HYOU1_uc010ryu.1_Silent_p.L174L|HYOU1_uc010ryv.1_Silent_p.L43L|HYOU1_uc001pux.3_Silent_p.L154L|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Silent_p.L154L	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	154						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GAGAATAATTGAGAACCATGC	0.532000														51			5		0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68364490	68364491	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:68364490_68364491GG>AA	uc002see.1	-	5	789_790	c.708_709CC>TT	c.(706-711)ttccat>ttTTat	p.H237Y	WDR92_uc002sed.1_Non-coding_Transcript|WDR92_uc002sef.1_Missense_Mutation_p.H237Y|WDR92_uc002seg.1_Missense_Mutation_p.H136Y	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	237					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TCAAAAACATGGAACTTTCCTT	0.356000														40			4		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497454	50497454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:50497454G>A	uc001zxw.3	+	3	1098	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	SLC27A2_uc010bes.3_Missense_Mutation_p.R236Q|SLC27A2_uc001zxx.3_Missense_Mutation_p.R54Q	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	289					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTGCCTTGCGGACTAAATTT	0.398000														50			11		0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34145016	34145016	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:34145016C>T	uc002xcs.3	+	12	1152	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ERGIC3_uc002xct.3_Silent_p.F356F	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	356					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGGGCATGTTCACAGGTAAGA	0.632000														122			11		0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27381694	27381694	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27381694C>T	uc002hdr.1	+	4	1118	c.792C>T	c.(790-792)taC>taT	p.Y264Y		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	264					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CAGGAGAGTACCCAGGGCTGA	0.567000														52			13		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957862	74957863	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:74957862_74957863CC>TT	uc001dge.2	+	24	2633_2634	c.2566_2567CC>TT	c.(2566-2568)cct>TTt	p.P856F	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P755F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	755						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CCGGGGAGGACCTGGCCGGAGT	0.500000														51			18		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40668752	40668752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:40668752C>T	uc001rmg.4	+	15	2019	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	LRRK2_uc001rmh.1_Missense_Mutation_p.S255F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	633					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTCTGGTTTCCAGCTTATAC	0.368000														13			3		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913531	77913531	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:77913531G>A	uc022bzi.1	-	0	387	c.387C>T	c.(385-387)gcC>gcT	p.A129A	ZCCHC5_uc004edc.1_Silent_p.A129A	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	129	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGATCTCATGGGCCATTGGAG	0.632000														8			4		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25064518	25064518	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:25064518G>A	uc010ykm.2	-	3	1174	c.975C>T	c.(973-975)atC>atT	p.I325I	ADCY3_uc002rfr.4_5'UTR|ADCY3_uc002rfs.4_Silent_p.I325I	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	325					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TAAAGCCCACGATGTCGGCAA	0.602000														30			13		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115219992	115219992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115219992C>T	uc001efe.2	-	9	1515	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	AMPD1_uc001eff.2_Missense_Mutation_p.M485I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	456					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	GAACCTGGATCATCCATGTCA	0.537000														57			5		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142403006	142403006	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:142403006G>A	uc010huv.3	+	6	897	c.738G>A	c.(736-738)agG>agA	p.R246R	PLS1_uc003euz.3_Silent_p.R246R|PLS1_uc003eva.3_Silent_p.R246R	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	246	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AGATTTCCAGGAATGAAGGTA	0.398000														67			5		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76874015	76874015	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76874015C>T	uc001oyb.2	+	13	1943	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	MYO7A_uc010rsl.2_Silent_p.I557I|MYO7A_uc010rsm.1_Silent_p.I546I|MYO7A_uc001oyc.2_Silent_p.I557I	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	557	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			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						TTGCAGGCATCGTCTACTATG	0.557000														129			6		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157053512	157053512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:157053512G>A	uc003lxb.1	-	4	2440	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	SOX30_uc003lxc.1_3'UTR|SOX30_uc011dds.1_Missense_Mutation_p.H395Y	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	700					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTGGCTATGACTGTTATAG	0.423000														21			4		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307657	39307657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39307657C>T	uc021wwc.1	-	1	480	c.440G>A	c.(439-441)gGa>gAa	p.G147E	CX3CR1_uc021wwa.1_Missense_Mutation_p.G115E|CX3CR1_uc021wwb.1_Missense_Mutation_p.G115E|CX3CR1_uc003cjl.3_Missense_Mutation_p.G115E|CX3CR1_uc021wwd.1_Missense_Mutation_p.G115E	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	115			V -> I (in dbSNP:rs3732380).		cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GAATATGCTTCCAAAAAAGCC	0.502000														72			5		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57176859	57176859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:57176859C>T	uc003hbk.2	+	5	704	c.313C>T	c.(313-315)Cct>Tct	p.P105S	KIAA1211_uc010iha.2_Missense_Mutation_p.P98S|KIAA1211_uc011bzz.1_Missense_Mutation_p.P15S|KIAA1211_uc003hbl.3_Non-coding_Transcript|KIAA1211_uc003hbm.1_5'UTR	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	105										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTCTCTAAGTCCTCTGAATCT	0.428000														46			7		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643417	37643417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37643417C>T	uc002ofo.1	-	4	1615	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF585A_uc002ofm.1_Missense_Mutation_p.G407R|ZNF585A_uc002ofn.1_Missense_Mutation_p.G407R	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCTTTTCTCCTGTGTGAATT	0.383000														79			11		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320665	69320665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:69320665G>A	uc002ars.2	+	2	326	c.285G>A	c.(283-285)atG>atA	p.M95I	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.M77I|NOX5_uc002arp.2_Missense_Mutation_p.M77I|NOX5_uc010bid.2_Missense_Mutation_p.M88I|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Missense_Mutation_p.M95I	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	95	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.Q95*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCAGCCCCATGGACAAACTCA	0.557000														123			10		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056392	180056392	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:180056392G>A	uc003mlz.4	-	6	931	c.852C>T	c.(850-852)tcC>tcT	p.S284S	FLT4_uc003mma.4_Silent_p.S284S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Silent_p.S284S|FLT4_uc011dgz.1_Intron	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGTCTGCTGGGAGCGTCGCT	0.662000														66			4		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626178	140626178	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140626178C>T	uc003lje.3	+	0	1032	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	344	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATAACTTCCCGGAACTAA	0.458000														63			4		0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40280676	40280676	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40280676G>A	uc010cxx.3	-	3	765	c.408C>T	c.(406-408)atC>atT	p.I136I	RAB5C_uc002hyz.3_Silent_p.I103I|RAB5C_uc002hza.3_Silent_p.I103I	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	103					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CTGTGTTGGTGATGTCATAGA	0.527000														92			9		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63327659	63327659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63327659G>A	uc001nxg.1	-	1	75	c.16C>T	c.(16-18)Cca>Tca	p.P6S		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	6					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTCGGTCTTGGTCTGGCCTGC	0.557000														113			9		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3236010	3236010	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3236010C>T	uc004crg.4	-	5	5869	c.5712G>A	c.(5710-5712)cgG>cgA	p.R1904R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1904	Ig-like C2-type 3.					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)				GAACCTCAAACCGTTGTATCC	0.473000														20			4		0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57835523	57835523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57835523C>T	uc003dje.1	+	4	704	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	SLMAP_uc003djc.1_Nonsense_Mutation_p.Q167*|SLMAP_uc003djd.1_Nonsense_Mutation_p.Q167*|SLMAP_uc003djf.1_Nonsense_Mutation_p.Q167*	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	167					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GGAACTATTCCAGCTTTCTCA	0.333000														119			9		0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610571	19610571	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19610571G>A	uc001bbv.1	-	5	830	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	251					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCTGCAGGGCCTTCTCCA	0.647000														63			8		0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69983283	69983283	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:69983283C>T	uc001svb.1	+	6	559	c.465C>T	c.(463-465)ttC>ttT	p.F155F	CCT2_uc010stl.1_Silent_p.F108F	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	155					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAGTTAAATTCCGTCAAGATT	0.303000														25			4		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65119203	65119203	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65119203C>T	uc001odm.3	+	10	1282	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	DPF2_uc010roe.2_Silent_p.S199S	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	383					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGAAAGCTTCCATCTACCAGA	0.517000														89			11		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591016	87591016	+	Silent	SNP	C	T	T	rs142347723		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:87591016C>T	uc003ydx.3	-	16	2052	c.2004G>A	c.(2002-2004)ccG>ccA	p.P668P	CNGB3_uc010maj.3_Silent_p.P525P	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	668					signal transduction|visual perception	integral to membrane	cGMP binding	p.P668P(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCTTCTTTCGGTGGGAAGA	0.473000														46			11		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31932101	31932101	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31932101C>T	uc003nyn.1	+	16	2342	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	SKIV2L_uc011dou.1_Silent_p.F493F|SKIV2L_uc011dov.1_Silent_p.F458F	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	651	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGATGCTCTTCAGCCGTGGCC	0.607000														244			15		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738913	102738913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102738913G>A	uc001krw.2	+	7	1252	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.A290T|SEMA4G_uc001krx.3_Missense_Mutation_p.A290T|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	290	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTTCCTGAAAGCCCGTCTCAT	0.567000														67			13		0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39427845	39427845	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39427845C>T	uc003awt.4	+	5	1316	c.909C>T	c.(907-909)ttC>ttT	p.F303F	APOBEC3D_uc010gxu.3_Silent_p.F99F|APOBEC3D_uc003awu.4_Silent_p.F119F	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	303					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGGCCGAGTTCCTGGCCAGGC	0.572000														81			11		0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21703848	21703848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21703848G>A	uc002kuw.3	+	8	1689	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	TTC39C_uc002kuu.3_Missense_Mutation_p.E352K	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	413							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TGTCTTTAAAGAAGTTCAGAA	0.383000														17			3		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224643	248224643	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248224643T>C	uc001idx.1	+	0	660	c.660T>C	c.(658-660)gtT>gtC	p.V220V	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220G(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGGCCGGGTTCTCCTTGCTG	0.493000														54			9		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55141026	55141026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55141026C>T	uc003han.4	+	11	2003	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R452C|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_5'Flank	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	558					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.(552_596)?(5)		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)	GTATGAAATTCGCTGGAGGGT	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				47			4		0	0	1	0	0
RAB10	10890	broad.mit.edu	37	2	26257559	26257559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26257559C>T	uc002rgv.3	+	0	831	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_016131	NP_057215	P61026	RAB10_HUMAN	Homo sapiens RAB10, member RAS oncogene family (RAB10), mRNA.	28					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCCTTTTTCGTTTTTCGGA	0.522000														121			41		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457803	5457803	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:5457803C>T	uc003jdm.4	+	11	1272	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	350	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCCCTCGCCCCCTCCGATGT	0.448000														173			24		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243370	6243370	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:6243370C>T	uc002kmz.4	-	6	543	c.383G>A	c.(382-384)tGg>tAg	p.W128*	L3MBTL4_uc002kmy.4_Nonsense_Mutation_p.W128*|L3MBTL4_uc010dkt.3_Nonsense_Mutation_p.W128*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	128					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W128_T129>*(1)|p.W128*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AGCATTGGTCCAAAAATCATA	0.388000														53			5		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526555	173526556	+	Missense_Mutation	DNP	AT	TC	TC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:173526555_173526556AT>TC	uc001giz.2	-	9	1561_1562	c.1138_1139AT>GA	c.(1138-1140)att>GAt	p.I380D	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	380					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AACTCCTTTAATTCCAGACCAC	0.376000														119			7		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892855	72892855	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72892855G>A	uc003tyc.3	-	6	1288	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	312	Lys-rich.|Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTGTCTGGGGATCCAGTAT	0.358000														68			9		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220789325	220789325	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:220789325C>T	uc009xdw.3	+	6	1137	c.540C>T	c.(538-540)caC>caT	p.H180H	MARK1_uc001hmn.4_Silent_p.H180H|MARK1_uc010pun.2_Silent_p.H180H|MARK1_uc001hmm.4_Silent_p.H158H	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	180	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACATTGTTCACCGTGATCTTA	0.259000														35			5		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156507044	156507044	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156507044G>A	uc001fpf.3	-	26	3426	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1117	Ras-GAP.				small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCGTAGGGCGATGTCCAGTC	0.557000														69			11		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81934316	81934316	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81934316G>A	uc002fgt.3	+	13	1471	c.1293G>A	c.(1291-1293)acG>acA	p.T431T	PLCG2_uc010chg.1_Silent_p.T431T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	431	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T431T(6)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCTGTTGACGAAGCCCACGG	0.612000														44			4		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42839758	42839758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42839758C>T	uc010gor.3	-	12	1542	c.1481G>A	c.(1480-1482)gGg>gAg	p.G494E	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G457E|TMPRSS2_uc010gos.1_Missense_Mutation_p.G457E|TMPRSS2_uc021wjn.1_5'Flank	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	457					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G457fs*22(2)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCTTGTATCCCCTATCAGCCA	0.498000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									65			7		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44278886	44278886	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44278886G>A	uc010jza.1	-	3	597	c.594C>T	c.(592-594)agC>agT	p.S198S	TMEM151B_uc003oxg.3_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	198					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)		L-Alanine(DB00160)	AAAGCACACGGCTAGCAGGCA	0.587000														62			7		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186634	7186634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7186634C>T	uc002gfp.3	+	1	304	c.104C>T	c.(103-105)tCc>tTc	p.S35F	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.S25F	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	35					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTTGGCTCCCTGCAGTTT	0.597000														69			17		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17844133	17844133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17844133C>T	uc002nhe.1	+	5	2929	c.2920C>T	c.(2920-2922)Ctc>Ttc	p.L974F	MAP1S_uc010xpv.1_Missense_Mutation_p.L948F	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	974	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGTGCGCGCGCTCTGCTACGT	0.672000														18			5		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849870	73849871	+	Missense_Mutation	DNP	CC	AT	AT	rs115151346	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73849870_73849871CC>AT	uc003xzb.3	+	2	2868_2869	c.2280_2281CC>AT	c.(2278-2283)accccc>acATcc	p.P761S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	761					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			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)			TAGAAGAAACCCCCTCCCAGGG	0.589000														88			8		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121685033	121685033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:121685033G>A	uc010flp.3	+	1	275	c.245G>A	c.(244-246)gGt>gAt	p.G82D	GLI2_uc010yyu.1_Missense_Mutation_p.G82D|GLI2_uc002tmp.1_Missense_Mutation_p.G82D|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.G82D|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Missense_Mutation_p.G82D	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	82					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			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)				TCTGTCCACGGTGTGCACGGG	0.622000														106			17		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27287662	27287662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27287662G>A	uc003xfn.2	+	10	1412	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PTK2B_uc022ate.1_Missense_Mutation_p.E202K|PTK2B_uc003xfp.2_Missense_Mutation_p.E202K|PTK2B_uc003xfq.2_Missense_Mutation_p.E202K|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	202	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.F201F(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GTCCAACTTCGAGCTCCTAGA	0.547000														239			40		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105845060	105845060	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:105845060G>A	uc001pix.2	+	15	2879	c.2433G>A	c.(2431-2433)ctG>ctA	p.L811L	GRIA4_uc001piw.2_Silent_p.L811L|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	811					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCTTGAGCCTGAGCAATGTAG	0.473000														59			5		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284519	45284519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45284519G>A	uc002ozs.3	+	2	619	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CBLC_uc010ejt.3_Missense_Mutation_p.E186K	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	186	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCACCCTGTGGAACCAGGCTG	0.642000			M		AML									501			63		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266210	100266210	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100266210C>T	uc021xqi.1	-	4		c.461G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGGTGCCATCCTGCAGGGTC	0.552000														21			4		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199934	71199934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:71199934G>A	uc001xmm.3	-	10	2152	c.2152C>T	c.(2152-2154)Cat>Tat	p.H718Y	MAP3K9_uc010ttk.2_Missense_Mutation_p.H446Y|MAP3K9_uc001xmk.3_Missense_Mutation_p.H451Y|MAP3K9_uc001xml.3_Missense_Mutation_p.H732Y	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	718					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)		GGCTCCTCATGGATTCCATCA	0.632000														65			5		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168272960	168272960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:168272960C>T	uc021zik.1	+	3	677	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	MLLT4_uc003qwb.1_Missense_Mutation_p.L160F|MLLT4_uc003qwc.2_Missense_Mutation_p.L161F|MLLT4_uc021zij.1_Missense_Mutation_p.L160F	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	161	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.L160V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAAGAGAACTCTCTCaaagaa	0.388000			T	MLL	AL									46			4		0	0	1	0	0
C12orf59	120939	broad.mit.edu	37	12	10332194	10332194	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:10332194C>T	uc001qxr.3	+	0	638	c.21C>T	c.(19-21)gtC>gtT	p.V7V	C12orf59_uc001qxq.3_Missense_Mutation_p.S2L			Q4KMG9	CL059_HUMAN	Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA.	7						integral to membrane		p.S2L(1)		large_intestine(4)|lung(4)|ovary(1)	9						GAGTTCATGTCGTGGCGGCCT	0.478000														128			10		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706869	96706869	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96706869C>T	uc010avm.1	+	2	400	c.204C>T	c.(202-204)ttC>ttT	p.F68F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F41F|BDKRB2_uc001yfg.2_Silent_p.F68F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	68					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGGTGCTGTTCGTGCTGGCCA	0.612000														131			18		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643194	156643194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156643194G>A	uc003iov.3	+	9	2257	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	GUCY1A3_uc010iqc.2_Missense_Mutation_p.R574Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R573Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R574Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R574Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R339Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R574Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R339Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R574Q	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	574	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTCAGATGCGAATTGGACTG	0.398000														24			5		0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776470	53776471	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53776470_53776471TC>CT	uc001scw.3	+	2	836_837	c.739_740TC>CT	c.(739-741)tca>CTa	p.S247L	SP1_uc021qyf.1_Missense_Mutation_p.S199L|SP1_uc010sog.2_Missense_Mutation_p.S240L	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	247	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TAATGTACTCTCAGGACAGACT	0.510000														75			10		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348635	3348636	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3348635_3348636AG>TA	uc001akf.3	+	15	3709_3710	c.3627_3628AG>TA	c.(3625-3630)aaagat>aaTAat	p.1209_1210KD>NN	PRDM16_uc001ake.3_Missense_Mutation_p.1209_1210KD>NN|PRDM16_uc009vlh.3_Missense_Mutation_p.909_910KD>NN|PRDM16_uc001akc.3_Missense_Mutation_p.1208_1209KD>NN	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1209	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)		TTGAAGTTAAAGATGTGCTTAA	0.545000			T	EVI1	"""MDS, AML"""									80			5		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46408064	46408064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46408064G>A	uc001nct.1	-	0	44	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	15					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CAGGCGCACGGACTGATTGCC	0.577000														85			7		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208205	53208205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:53208205G>A	uc002xwy.3	+	4	680	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	154	IRS-type PTB.						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)			TGTACATGGCGAATGTGCCTT	0.438000														78			12		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39081215	39081215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39081215G>A	uc002rrf.3	-	8	2110	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y	DHX57_uc002rrd.4_Missense_Mutation_p.H55Y|DHX57_uc002rre.3_Missense_Mutation_p.H104Y|DHX57_uc002rrg.3_3'UTR	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	671	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTCCTCTCATGAACTTCATCA	0.433000														62			32		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17491704	17491704	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17491704G>A	uc003wxr.3	+	5	1366	c.921G>A	c.(919-921)tgG>tgA	p.W307*		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	307	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGTTCACCTGGATCTTCCCAG	0.542000														108			14		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601965	43601965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43601965G>A	uc001jal.3	+	4	1199	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RET_uc001jak.1_Missense_Mutation_p.E337K|RET_uc010qez.1_Missense_Mutation_p.E83K	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	337					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGGCCCAACGAGACCTCGGT	0.652000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					29			8		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923469	117923469	+	Silent	SNP	G	A	A	rs75821910	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:117923469G>A	uc001two.2	-	14	2215	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	749	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G719G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTCACAACGGAATAGAGCG	0.448000														59			5		0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50295850	50295850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:50295850G>A	uc010anj.1	-	12	1222	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	NEMF_uc001wxc.3_Missense_Mutation_p.A385V|NEMF_uc010tqi.2_Missense_Mutation_p.A385V|NEMF_uc001wxe.2_Missense_Mutation_p.A343V|NEMF_uc001wxd.1_5'UTR|NEMF_uc010anq.1_Missense_Mutation_p.A156V	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	385						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTGAGCCTGGGCTTCTTTCAC	0.393000														68			19		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215840562	215840562	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:215840562C>T	uc002vew.3	-	33	5548	c.5328G>A	c.(5326-5328)gaG>gaA	p.E1776E	ABCA12_uc002vev.3_Silent_p.E1458E|ABCA12_uc010zjn.2_Silent_p.E703E	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1776					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATCTGAATCTCTGGATAAC	0.448000														21			8		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39085927	39085927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39085927G>A	uc002rrf.3	-	5	1562	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.P488L	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	488							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TACTATAACAGGTGCAGGACC	0.373000														62			9		0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21213631	21213631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21213631C>T	uc011ahw.2	+	0	340	c.233C>T	c.(232-234)tCc>tTc	p.S78F	PI4KA_uc002zsz.4_5'Flank|PI4KA_uc010gsq.2_5'Flank	NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	78					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GTCGCCTCTTCCGAGGTGAGC	0.607000														97			7		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753667	207753667	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207753667C>T	uc001hfy.3	+	21	3809	c.3669C>T	c.(3667-3669)ttC>ttT	p.F1223F	CR1_uc009xcl.1_Silent_p.F773F|CR1_uc001hfx.3_Silent_p.F1673F|CR1_uc021pij.1_Silent_p.F1223F	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1223	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.F1228L(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						AGGAAGTGTTCTACAGCTGTG	0.582000														26			12		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75109255	75109255	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:75109255C>T	uc002snd.3	+	11	3654	c.1728C>T	c.(1726-1728)gaC>gaT	p.D576D		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	576	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTCTTTGACCACATTGTCC	0.587000														77			12		0	0	1	0	0
WFDC1	58189	broad.mit.edu	37	16	84360531	84360531	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84360531G>A	uc002fhv.3	+	5	825	c.648G>A	c.(646-648)caG>caA	p.Q216Q	WFDC1_uc002fhw.3_Silent_p.Q216Q	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA.	216					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GGGGACAACAGAAGCACTTTC	0.512000														53			4		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36937434	36937434	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:36937434G>A	uc002xib.2	+	2	422	c.360G>A	c.(358-360)ggG>ggA	p.G120G		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	120					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.S119I(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AGATCAGCGGGAAATGGAAGG	0.493000														61			8		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581575	140581575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140581575G>A	uc003liy.3	+	0	2228	c.2228G>A	c.(2227-2229)gGg>gAg	p.G743E		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	743					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.T742T(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGGCACCGGGACCCTTTCC	0.602000														98			21		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086763	101086763	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:101086763G>A	uc003dut.3	-	7	1000	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	SENP7_uc003duu.3_Silent_p.L232L|SENP7_uc003duv.3_Silent_p.L264L|SENP7_uc003duw.3_Silent_p.L231L|SENP7_uc003dux.3_Silent_p.L133L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	297					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGAAATCAGAGTGAGTTCC	0.358000														14			3		0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005140	20005140	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20005140G>A	uc001bcl.3	+	1	1262	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		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;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGGCCCTGAAGGCCAGCCTGA	0.627000														61			4		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9248242	9248242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9248242C>T	uc001qvk.1	-	15	2019	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	A2M_uc009zgk.1_Missense_Mutation_p.D486N	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	636					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTGTCCTGGTCATTCAAAGGC	0.378000														77			7		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31902172	31902172	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31902172C>T	uc003nye.4	+	5	1209	c.945C>T	c.(943-945)caC>caT	p.H315H	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	0	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCACAGCCCACCTCCTCCAAG	0.468000														43			6		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151877065	151877065	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:151877065G>A	uc003wla.3	-	36	7515	c.7296C>T	c.(7294-7296)ttC>ttT	p.F2432F	MLL3_uc003wkz.3_Silent_p.F1493F|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2432	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGGTCTGGTGAAAGCCTGGT	0.542000			N		medulloblastoma									54			10		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424898	91424898	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91424898C>T	uc002bpu.1	+	15	2391	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	FES_uc002bpv.3_5'Flank|FES_uc010uqj.2_5'Flank|FES_uc010uqk.2_5'Flank	NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	725					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.I725I(2)|p.V717fs*18(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCGCCTTCATCGTGCTGGTCT	0.662000														414			166		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140285	40140285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40140285G>A	uc003ayg.3	-	6	1474	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	408										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGAAGCAGTTGAAACTAAAAT	0.358000														18			4		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680389	216680389	+	Silent	SNP	G	A	A	rs111905976		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216680389G>A	uc001hkw.2	-	6	1442	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	ESRRG_uc009xdp.1_Silent_p.L400L|ESRRG_uc001hky.1_Silent_p.L400L|ESRRG_uc001hkz.2_Silent_p.L361L|ESRRG_uc010puc.2_Silent_p.L400L|ESRRG_uc001hla.2_Silent_p.L400L|ESRRG_uc001hlb.2_Silent_p.L400L|ESRRG_uc010pud.2_Silent_p.L238L|ESRRG_uc021pja.1_Silent_p.L172L|ESRRG_uc001hlc.1_Silent_p.L400L|ESRRG_uc001hld.1_Silent_p.L400L|ESRRG_uc001hkx.2_Silent_p.L435L|ESRRG_uc009xdo.2_Silent_p.L400L|ESRRG_uc001hle.2_Silent_p.L400L|ESRRG_uc021piz.1_Silent_p.L400L	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	423					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTGCCTCAGGAGTGGCAGTG	0.498000														33			8		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458528	142458528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142458528G>A	uc003wak.2	+	1	180	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	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_Missense_Mutation_p.R30Q|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	55	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)			CCTCATCAACGAACAGTGGGT	0.572000														40			18		0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95091130	95091130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:95091130C>T	uc003klm.3	+	5	1250	c.713C>T	c.(712-714)tCa>tTa	p.S238L	RHOBTB3_uc003klk.1_Missense_Mutation_p.S32L	NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	238					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGAAGCGTCACATTATAAC	0.358000														72			16		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183694754	183694754	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183694754C>T	uc003ivd.1	+	21	5097	c.5022C>T	c.(5020-5022)atC>atT	p.I1674I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1674					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)		ATGTCAGCATCACTTCAAATC	0.453000														139			8		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485362	36485362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36485362C>T	uc002hpz.3	-	10	4111	c.4090G>A	c.(4090-4092)Gaa>Aaa	p.E1364K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1364						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCAGCAGCTTCCCACCCAGGC	0.612000														79			5		0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86180773	86180773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:86180773C>T	uc003ydg.2	+	5	928	c.586C>T	c.(586-588)Cct>Tct	p.P196S	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	196					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						CTGGACATATCCTGGTTCTCT	0.408000														29			4		0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15493157	15493157	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:15493157G>A	uc003bzx.3	-	16	1488	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	COLQ_uc003bzv.3_Silent_p.F444F|COLQ_uc010heo.3_Silent_p.F420F|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Silent_p.F313F	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	454					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GCCCTCAGGTGAAGTAGCGGC	0.592000														70			4		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356643	10356643	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10356643C>T	uc002gmn.3	-	23	3048	c.2937G>A	c.(2935-2937)gtG>gtA	p.V979V	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	979					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTTTTCACCTTTAGAT	0.438000														93			7		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547262	28547262	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28547262G>A	uc003szq.3	+	3	588	c.198G>A	c.(196-198)ctG>ctA	p.L66L	CREB5_uc003szo.3_Silent_p.L33L|CREB5_uc003szr.3_Silent_p.L59L	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	66					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F65F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CGAGATTCCTGAAGAACTGCG	0.522000														331			11		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018316	110018316	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110018316C>T	uc001dxp.3	+	2	609	c.243C>T	c.(241-243)ggC>ggT	p.G81G	SYPL2_uc001dxo.2_Silent_p.G81G|SYPL2_uc010ovk.2_Silent_p.G81G|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	81	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_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;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGCATTTGGCTATCCCTTCA	0.537000														364			26		0	0	1	0	0
C3orf64	285203	broad.mit.edu	37	3	69047177	69047177	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:69047177G>A	uc003dnl.3	-	9	1221	c.816C>T	c.(814-816)atC>atT	p.I272I	C3orf64_uc003dnj.3_5'UTR|C3orf64_uc003dnk.3_Silent_p.I272I|C3orf64_uc011bfw.2_Intron|C3orf64_uc003dnm.1_Non-coding_Transcript	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA.	272						extracellular region	transferase activity, transferring glycosyl groups			NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		CCCACATCACGATGTACACGT	0.393000														74			4		0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262039	45262039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45262039C>T	uc010xxe.2	+	7	1188	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	373	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CAGCCAGACCCCTCCCCTGAC	0.657000			T	IGH@	CLL									144			14		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22212977	22212977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22212977G>A	uc003xbn.2	+	22	3029	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	PIWIL2_uc011kzf.1_Missense_Mutation_p.E925K|PIWIL2_uc010ltv.2_Missense_Mutation_p.E961K|PIWIL2_uc003xbo.2_Missense_Mutation_p.E115K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	961				E -> G (in Ref. 2; BAB55155).	DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTGCATCATGAACCAGCCAT	0.537000														29			6		0	0	1	0	0
MIR493	574450	broad.mit.edu	37	14	101335450	101335450	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:101335450C>T	uc021sca.1	+	0		c.54C>T								Homo sapiens microRNA 493 (MIR493), microRNA.																		tttgcacattcggtgaaggtc	0.597000														46			9		0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27371943	27371943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27371943G>A	uc002hdr.1	+	1	507	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	61					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGCGTACCTGGAAGACTTTTA	0.527000														68			11		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45398735	45398735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45398735C>T	uc001zun.3	-	15	2139	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	DUOX2_uc010bea.3_Missense_Mutation_p.G646R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	646					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTGGCACTCCATCTTTGGCT	0.552000														140			7		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110382	36110382	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36110382C>A	uc002oam.1	+	13	1287	c.1236C>A	c.(1234-1236)acC>acA	p.T412T		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	412					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCAGCAAGACCCGCCTGTGCC	0.632000														26			4		3.59834e-05	3.63868e-05	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020129	56020129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56020129C>T	uc010rjd.2	+	0	454	c.454C>T	c.(454-456)Cac>Tac	p.H152Y		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGCTTATGATCACTATGTAGC	0.408000														87			10		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412470	154412470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:154412470G>A	uc011efe.2	+	4	1829	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	OPRM1_uc011efd.2_Missense_Mutation_p.E243K|OPRM1_uc011efc.1_Missense_Mutation_p.E262K|OPRM1_uc003qpn.2_Missense_Mutation_p.E343K|OPRM1_uc003qpo.1_Missense_Mutation_p.E343K|OPRM1_uc011eff.1_Missense_Mutation_p.E343K|OPRM1_uc011efg.1_Missense_Mutation_p.E343K|OPRM1_uc011efi.2_Missense_Mutation_p.E343K|OPRM1_uc011efh.1_Missense_Mutation_p.E343K|OPRM1_uc003qpq.1_Missense_Mutation_p.E343K|OPRM1_uc003qpr.2_Missense_Mutation_p.E343K|OPRM1_uc003qpt.1_Missense_Mutation_p.E343K|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.E243K|OPRM1_uc003qpu.2_Missense_Mutation_p.E243K	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	343					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATTTCTGGATGAAAACTTCAA	0.448000														28			5		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368106	18368106	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18368106C>A	uc010ebn.2	-	3	4204	c.3988G>T	c.(3988-3990)Gtt>Ttt	p.V1330F	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.V1143F|KIAA1683_uc010xqe.1_Missense_Mutation_p.V1097F|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	133						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGGCTTGAACTATCTTCGCT	0.622000														53			10		0.000978159	0.00098697	1	1	0
UBR4	23352	broad.mit.edu	37	1	19525396	19525396	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19525396G>A	uc001bbi.3	-	3	409	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	135					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGTGCACAGGCCCTTGATTA	0.373000														46			4		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190780	104190780	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104190780G>A	uc010swe.1	-	5	686	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	215							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGATGTCCATGAACTGCTTCA	0.522000														46			5		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35207320	35207320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:35207320C>T	uc001ziv.3	-	15	1584	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	468						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTTAAAGTTCCTTAGCAGGTA	0.353000														31			4		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32956541	32956541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:32956541C>T	uc001mty.3	+	3	3617	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	QSER1_uc001mtz.1_Missense_Mutation_p.S878F|QSER1_uc001mua.3_Missense_Mutation_p.S622F	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1117										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACTCCTCCTTCCTCAGAAAGC	0.418000														45			4		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918838	15918838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15918838C>T	uc002nbq.2	-	0	99	c.10G>A	c.(10-12)Gcc>Acc	p.A4T		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	4					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						GAGTGATTGGCTCTCTGCATG	0.532000														53			16		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602512	18602512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:18602512G>A	uc002dfg.3	+	7	910	c.710G>A	c.(709-711)aGc>aAc	p.S237N	ABCC6P1_uc010vam.2_Missense_Mutation_p.S180N					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		CAAGAAGGGAGCCAGTGGCGC	0.567000														35			5		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45699681	45699681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45699681G>A	uc003tne.4	+	6	1366	c.1348G>A	c.(1348-1350)Ggg>Agg	p.G450R	ADCY1_uc003tnd.3_Missense_Mutation_p.G225R	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	450					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)	GTGCTTGAATGGGGACTACGA	0.488000														62			11		0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1637215	1637215	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1637215C>T	uc002ftj.2	+	6	5013	c.4884C>T	c.(4882-4884)agC>agT	p.S1628S	WDR81_uc002fth.2_Silent_p.S577S|WDR81_uc010vqp.1_Silent_p.S425S|WDR81_uc002fti.2_Silent_p.S401S|WDR81_uc010vqq.1_Silent_p.S259S	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	401										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCGGCGTGAGCCAGCAGGATG	0.667000														65			8		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943473	27943473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27943473C>T	uc001boj.3	-	4	723	c.577G>A	c.(577-579)Gat>Aat	p.D193N	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.D193N|FGR_uc001bol.3_Missense_Mutation_p.D193N|FGR_uc001bom.3_Missense_Mutation_p.D193N	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	193	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCACATGATCGCCTCTGGTC	0.552000														73			25		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251172	43251172	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43251172G>A	uc003ouq.1	+	13	2973	c.2694G>A	c.(2692-2694)ccG>ccA	p.P898P	TTBK1_uc021yzs.1_Silent_p.P186P	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	898						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAAGCCCCCGGGGCCTGGGG	0.672000														30			9		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249255	61249255	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61249255C>T	uc001nru.2	+	2	105	c.-27_splice	c.e2-1		PPP1R32_uc009ynq.2_Splice_Site	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.																		CCTTTCTAGGCCCCCTGGGGC	0.662000														16			6		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2582846	2582846	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2582846G>A	uc003smi.3	-	5	1203	c.915C>T	c.(913-915)ctC>ctT	p.L305L	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_3'UTR|BRAT1_uc003smj.2_3'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	305					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						ACCAGTGCTCGAGCTTCAGGA	0.647000														53			7		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45878181	45878181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45878181G>A	uc010zxy.1	-	12	1727	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	ZMYND8_uc010ghq.1_Nonsense_Mutation_p.R199*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.R497*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.R450*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.R522*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.R450*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.R274*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.R274*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.R497*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.R459*|ZMYND8_uc002xta.1_Nonsense_Mutation_p.R522*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.R542*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.R522*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.R517*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.R542*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.R517*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.R522*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.R522*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.R542*|ZMYND8_uc002xtg.3_Nonsense_Mutation_p.R516*|ZMYND8_uc010ghs.2_Nonsense_Mutation_p.R516*	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	522							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTTGCTTCGATCTGAAAGA	0.502000														51			12		0	0	1	0	0
TMEM147	10430	broad.mit.edu	37	19	36038232	36038232	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36038232C>T	uc002oaj.2	+	6	698	c.558C>T	c.(556-558)ttC>ttT	p.F186F	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Silent_p.F137F|TMEM147_uc021usr.1_Silent_p.F112F	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	186						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			GCAGGACCTTCGTCCACCTCT	0.572000														71			7		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296662	28296662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:28296662G>A	uc002ymg.3	-	7	3232	c.2503C>T	c.(2503-2505)Ctt>Ttt	p.L835F		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	835	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTGTTGCAAGAATCTGCACT	0.453000														77			4		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58253006	58253006	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:58253006G>A	uc002aex.3	-	11	1719	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P	ALDH1A2_uc010ugv.2_Silent_p.P461P|ALDH1A2_uc002aey.3_Silent_p.P444P|ALDH1A2_uc010ugw.2_Silent_p.P453P|ALDH1A2_uc002aew.3_Silent_p.P386P	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	482					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATCCCCCAAAGGGGCTCTGGG	0.423000														22			3		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418929	31418929	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31418929G>A	uc010cap.1	+	7	847	c.798G>A	c.(796-798)ctG>ctA	p.L266L	ITGAD_uc010vfl.1_Silent_p.L266L|ITGAD_uc002ebv.1_Silent_p.L266L|ITGAD_uc002ebw.1_Silent_p.L77L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	266	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGACCCCCTGGAATACAGTG	0.547000														63			7		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101536	81101536	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81101536T>G	uc001szf.2	+	0	129	c.38T>G	c.(37-39)tTc>tGc	p.F13C		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	13					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.F13L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TCCTATTTCTTCTACTTGGAT	0.493000														75			7		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92441921	92441921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:92441921C>T	uc001dol.4	+	5	962	c.544C>T	c.(544-546)Cct>Tct	p.P182S	BRDT_uc010osz.2_Missense_Mutation_p.P186S|BRDT_uc001dok.4_Missense_Mutation_p.P182S|BRDT_uc009wdf.3_Missense_Mutation_p.P109S|BRDT_uc010otb.2_Missense_Mutation_p.P136S|BRDT_uc010ota.2_Missense_Mutation_p.P136S|BRDT_uc001dom.4_Missense_Mutation_p.P182S	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGTATTTCCTAAGACATC	0.393000														41			8		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811546	156811546	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156811546G>A	uc010pht.2	-	19	3737	c.3438C>T	c.(3436-3438)taC>taT	p.Y1146Y	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1146	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCCTTGCGGTAATAGTCTG	0.612000														111			8		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100434256	100434256	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100434256G>A	uc003huw.3	+	1	380	c.18G>A	c.(16-18)ccG>ccA	p.P6P	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	6								p.P6Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCAACCCCCCGACATCTGCTC	0.473000														16			14		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495673	71495673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71495673C>T	uc003kbw.4	+	4	6732	c.6491C>T	c.(6490-6492)cCg>cTg	p.P2164L	MAP1B_uc010iyw.1_Missense_Mutation_p.P2181L|MAP1B_uc010iyx.1_Missense_Mutation_p.P2038L|MAP1B_uc010iyy.1_Missense_Mutation_p.P2038L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2164						microtubule|microtubule associated complex	structural molecule activity	p.P2164Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATGTTCCCCCGGAGACTGAA	0.577000														38			8		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160168518	160168519	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160168518_160168519CC>TT	uc010pja.2	+	7	1137_1138	c.880_881CC>TT	c.(880-882)cct>TTt	p.P294F		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	294						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAGCTGATCCTGGTGAGGGA	0.535000														110			7		0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9640052	9640052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9640052C>T	uc001apw.3	+	5	746	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.	175					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGTGTGCTCGTTACGTTTA	0.438000														48			4		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156463	145156463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:145156463G>A	uc002tvu.3	-	7	2813	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	ZEB2_uc010zbm.2_Missense_Mutation_p.S740F|ZEB2_uc002tvv.3_Missense_Mutation_p.S758F|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S793F	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	764						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P763P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGTAAAATGGGAAGGTTTTGT	0.403000														83			11		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532996	42532996	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:42532996C>T	uc010dni.3	+	3	3987	c.3691C>T	c.(3691-3693)Ctg>Ttg	p.L1231L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1231						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGTGGACACCCTGTCTACACT	0.517000									Schinzel-Giedion syndrome					14			3		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146351	156146351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156146351G>A	uc001fnl.3	+	14	2028	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	SEMA4A_uc009wrq.3_Missense_Mutation_p.G617R|SEMA4A_uc001fnm.3_Missense_Mutation_p.G617R|SEMA4A_uc001fnn.3_Missense_Mutation_p.G485R|SEMA4A_uc001fno.3_Missense_Mutation_p.G617R	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	617	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTGCAGGATGGAGTTGGGGG	0.557000														82			7		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700523	41700523	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41700523G>A	uc002opw.3	+	1	307	c.252G>A	c.(250-252)caG>caA	p.Q84Q	CYP2S1_uc010xvx.2_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	84					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TGGTTGGGCAGGAGGCTGTGC	0.612000														57			9		0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240981419	240981419	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:240981419G>A	uc010zod.2	-	0	981	c.981C>T	c.(979-981)tcC>tcT	p.S327S		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	327										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAAGAGACGTGGATGAAGAGG	0.592000														154			10		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	750981	750981	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:750981G>A	uc003siu.2	-	1	295	c.162C>T	c.(160-162)ttC>ttT	p.F54F	PRKAR1B_uc021zyi.1_Silent_p.F54F|PRKAR1B_uc003siv.3_Silent_p.F54F|PRKAR1B_uc021zyj.1_Silent_p.F54F|PRKAR1B_uc021zyk.1_Silent_p.F54F|PRKAR1B_uc003siw.2_Silent_p.F54F	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	54	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCAGCTTCTCGAAGTGCTCCC	0.652000														59			19		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726466	71726466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71726466G>A	uc001orl.1	-	14	2255	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q258*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q695*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q258*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.Q695*|NUMA1_uc001oro.1_Nonsense_Mutation_p.Q695*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	695					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCTTCTCCTGGGCCACCCTT	0.597000			T	RARA	APL									94			4		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108029148	108029148	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:108029148G>A	uc001tmk.1	+	11	3239	c.2718G>A	c.(2716-2718)cgG>cgA	p.R906R	BTBD11_uc009zut.1_Silent_p.R787R|BTBD11_uc001tmj.3_Silent_p.R906R|BTBD11_uc001tml.1_Silent_p.R443R|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	906						integral to membrane	DNA binding	p.K905E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAATCAAACGGAAACAGACCT	0.527000														45			4		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832764	150832764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150832764G>A	uc004fev.4	+	10	1347	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	339						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCTGATGGATCCAGTGGA	0.597000														19			6		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862439	8862439	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:8862439C>A	uc002wnb.3	+	31	3597	c.3594C>A	c.(3592-3594)ccC>ccA	p.P1198P	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1198					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						ACAAGACTCCCTCCAGTGAGG	0.527000														17			6		0.0215528	0.0216996	1	1	0
PTPRS	5802	broad.mit.edu	37	19	5238958	5238958	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5238958G>A	uc002mbv.3	-	12	2055	c.1821C>T	c.(1819-1821)ccC>ccT	p.P607P	PTPRS_uc002mbu.1_Silent_p.P594P|PTPRS_uc010xin.2_Silent_p.P594P|PTPRS_uc002mbw.3_Silent_p.P594P|PTPRS_uc002mbx.3_Silent_p.P598P|PTPRS_uc002mby.3_Silent_p.P594P	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	607	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCGCACCACGGGGGTGAAGG	0.716000														62			9		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291239	141291239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:141291239G>A	uc022cfj.1	-	0	535	c.535C>T	c.(535-537)Cct>Tct	p.P179S	MAGEC2_uc004fbu.2_Missense_Mutation_p.P179S	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	179	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGTATCACAGGAAAGTAATCT	0.483000										HNSCC(46;0.14)				78			28		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125570932	125570932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125570932G>A	uc001uhc.3	+	3	621	c.415G>A	c.(415-417)Gct>Act	p.A139T	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.A139T|AACS_uc009zyh.3_Non-coding_Transcript	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	139					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAAGAAGTGGCTTTGTTTGC	0.463000														117			9		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45624608	45624608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:45624608C>T	uc001wwd.4	+	7	1441	c.1342C>T	c.(1342-1344)Cca>Tca	p.P448S	FANCM_uc001wwc.2_Missense_Mutation_p.P448S|FANCM_uc010anf.3_Missense_Mutation_p.P422S|FANCM_uc001wwe.4_Missense_Mutation_p.P53S	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	448					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTATAGTCATCCAAAGTTAAA	0.259000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					10			3		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10719845	10719845	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10719845G>A	uc001aro.3	-	5	1574	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A	CASZ1_uc001arp.1_Silent_p.A418A|CASZ1_uc009vmx.2_Silent_p.A442A|CASZ1_uc001arq.1_Silent_p.A277A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGACAGGGAGGCAGGAGGCT	0.682000														101			6		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277183	48277183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48277183C>T	uc002iqm.3	-	1	355	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	77	VWFC.				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)	TTCTTGGTCTCGTCACAGATC	0.682000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							136			15		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21035967	21035967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21035967G>A	uc010vbe.2	-	38	5597	c.5597C>T	c.(5596-5598)tCc>tTc	p.S1866F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1866	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)		GTCCATGTAGGAATCCTTCAG	0.542000														32			4		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680830	100680830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100680830C>T	uc003uxp.1	+	2	6186	c.6133C>T	c.(6133-6135)Cca>Tca	p.P2045S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2045	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGGACCACTCCATTAGCAGG	0.502000														75			23		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140683343G>A	uc003ljf.3	-	0	270	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	30					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.F30F(2)|p.P29P(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597000														38			6		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783979	54783979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:54783979C>T	uc004dtj.2	-	7	2558	c.2528G>A	c.(2527-2529)gGa>gAa	p.G843E		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	843	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CAAGAGGATTCCAGGCCCCAG	0.507000														52			6		0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141443372	141443372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141443372G>A	uc003vwo.1	+	3	175	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	SSBP1_uc011kri.1_Missense_Mutation_p.V33M|SSBP1_uc010lnp.1_Missense_Mutation_p.V33M	NM_003143	NP_003134	Q04837	SSBP_HUMAN	Homo sapiens single-stranded DNA binding protein 1 (SSBP1), nuclear gene encoding mitochondrial protein, mRNA.	33	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					CCTGAATCGTGTGCACTTACT	0.453000														69			18		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423558	88423558	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:88423558G>A	uc002bme.2	-	18	2583	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	NTRK3_uc002bmh.2_Silent_p.I737I|NTRK3_uc002bmf.2_Silent_p.I745I|NTRK3_uc021sua.1_Silent_p.I737I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	759	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q759K(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)			TCTCCCAGAGGATCACCCCGA	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				60			7		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437313	1437313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1437313G>A	uc002qwr.3	+	3	369	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.E95K|TPO_uc002qww.3_Missense_Mutation_p.E95K|TPO_uc002qwx.3_Missense_Mutation_p.E95K|TPO_uc002qwu.3_Missense_Mutation_p.E95K|TPO_uc010yio.2_Missense_Mutation_p.E95K|TPO_uc010yip.2_Missense_Mutation_p.E95K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	95					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)	AGAGATAATGGAAACATCAAT	0.478000														27			5		0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953831	8953831	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8953831G>A	uc002mko.2	+	0	563	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						AACAGGAAGGGAAAGTGAAGA	0.493000														23			5		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868765	189868765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:189868765C>T	uc002uqj.1	+	38	2836	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	907	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G906V(1)|p.G906fs*5(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCCCCCAGGTCCTGCGGGTAA	0.547000														20			5		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527202	6527202	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6527202G>A	uc001iji.1	-	8	1113	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	PRKCQ_uc001ijj.2_Silent_p.I310I|PRKCQ_uc009xim.2_Silent_p.I310I|PRKCQ_uc009xin.2_Silent_p.I274I|PRKCQ_uc010qax.2_Silent_p.I185I	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	310					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.Q342R(1)|p.Q342fs*17(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTCTCTGAAGATCTGTTCAG	0.507000														69			13		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46834690	46834690	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46834690G>A	uc003oyo.3	-	12	2095	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	GPR116_uc011dwj.1_Silent_p.F157F|GPR116_uc011dwk.1_Silent_p.F31F|GPR116_uc003oyp.3_Silent_p.F460F|GPR116_uc003oyq.3_Silent_p.F602F|GPR116_uc010jzi.1_Silent_p.F274F	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AACCCGTATGGAAAGTAACTT	0.403000														51			4		0	0	1	0	0
RELL1	768211	broad.mit.edu	37	4	37650952	37650952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:37650952G>A	uc003gsz.2	-	1	349	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	RELL1_uc010ifc.3_Missense_Mutation_p.R87C	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	87						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GTTGTACAACGATAGCCTTTC	0.433000														110			9		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31572946	31572946	+	Nonsense_Mutation	SNP	G	A	A	rs147686372		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31572946G>A	uc002wyi.3	-	11	1036	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	315	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGCTGAAACTGAAATGCCCCC	0.567000														72			11		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428830	139428830	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:139428830G>A	uc002tvi.3	-	1	457	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	153	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ACATTGCCCAGGCCTGTTGAA	0.438000														20			6		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748898	126748898	+	Silent	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126748898G>C	uc003ejg.3	+	26	5052	c.5052G>C	c.(5050-5052)ctG>ctC	p.L1684L	PLXNA1_uc003ejh.3_Silent_p.L329L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1684					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACGGCTACTGGCCACCAAGG	0.637000														51			5		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245655	59245655	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:59245655C>T	uc001nnz.1	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F249L(1)|p.P251T(1)|p.V250V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGCATTTCGTGCCCTGCA	0.547000														71			21		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898849	130898849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130898849C>T	uc001uil.2	-	13	2689	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	825						cell junction|synapse		p.D824D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCCCGTAATCGTCTGCGAGC	0.572000														89			7		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762452	53762452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53762452G>A	uc002qbi.2	+	0	908	c.824G>A	c.(823-825)gGg>gAg	p.G275E		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	275					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTGTGTCTGGGGCTCATGCTC	0.458000														137			6		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700975	192700975	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:192700975G>A	uc002utb.3	-	1	1307	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	318						caveola|cytosol	phosphatidylserine binding|protein binding	p.D317H(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTGCTAGGCAGGTCTTCTGAC	0.542000														96			18		0	0	1	0	0
FAM21B	55747	broad.mit.edu	37	10	47909221	47909221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:47909221C>T	uc009xni.3	+	9	791	c.791C>T	c.(790-792)tCg>tTg	p.S264L	FAM21B_uc001jep.4_Missense_Mutation_p.S159L	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN	Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA.	264					retrograde transport, endosome to Golgi	WASH complex|early endosome membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAGGACTTCTCGCCATTTGGC	0.527000														130			25		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28872388	28872388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28872388C>T	uc001iuf.3	+	3	423	c.335C>T	c.(334-336)tCa>tTa	p.S112L	WAC_uc001iud.3_Missense_Mutation_p.S67L|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Missense_Mutation_p.S67L|WAC_uc001iug.3_Missense_Mutation_p.S112L|WAC_uc001iuh.3_Missense_Mutation_p.S67L	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	112					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGTTCAAATTCACATTCTTCT	0.318000														62			10		0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64701933	64701933	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64701933C>T	uc002anm.3	+	6	1009	c.949C>T	c.(949-951)Cga>Tga	p.R317*		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	317					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAGAGAACTTCGACACGCCTC	0.453000														75			8		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48609802	48609802	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:48609802G>A	uc010xzd.2	-	1	383	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	PLA2G4C_uc002phw.3_5'Flank|PLA2G4C_uc010elr.3_5'UTR|PLA2G4C_uc002phx.3_5'UTR|PLA2G4C_uc002phy.4_5'UTR	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	364	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACTGCGGTCAGAAAATTCTCA	0.517000														57			5		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198863	86198863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:86198863C>T	uc001taf.1	-	1	1264	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	309					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTCCAGTTCACTTGCAGCT	0.373000														149			15		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037297	148037297	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:148037297G>A	uc004fcp.3	+	10	2201	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	AFF2_uc004fcq.3_Silent_p.T564T|AFF2_uc004fcr.3_Silent_p.T535T|AFF2_uc011mxb.2_Silent_p.T539T|AFF2_uc004fcs.3_Silent_p.T541T|AFF2_uc011mxc.2_Silent_p.T215T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	574					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.T574T(3)|p.T215T(1)|p.T574M(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGAAGACGAATGCCAGTC	0.473000														86			9		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57494115	57494115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57494115C>T	uc003dit.2	-	6	876	c.695G>A	c.(694-696)gGa>gAa	p.G232E	DNAH12_uc003diu.2_Missense_Mutation_p.G232E	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	232	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTACCTAATTCCTGTGAAGTC	0.294000														20			4		0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20570923	20570923	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:20570923C>T	uc002kua.3	+	9	954	c.831C>T	c.(829-831)ccC>ccT	p.P277P	RBBP8_uc002ktw.3_Silent_p.P277P|RBBP8_uc002kty.3_Silent_p.P277P|RBBP8_uc002ktz.3_Silent_p.P277P|RBBP8_uc002ktx.1_Silent_p.P277P	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	277					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.S276N(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CCATGAGCCCCCTTGGTGATG	0.383000								Homologous recombination						15			5		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802235	66802235	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66802235T>A	uc009yrl.3	+	2	384	c.154T>A	c.(154-156)Tct>Act	p.S52T	SYT12_uc001oju.3_Missense_Mutation_p.S52T	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	52						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						CCCCAGCCCCTCTCCGTTCCC	0.632000														57			7		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358399	124358399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124358399G>A	uc001lgk.1	+	25	3172	c.3066G>A	c.(3064-3066)tgG>tgA	p.W1022*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.W1012*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.W523*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.W1022*|DMBT1_uc021qag.1_Nonsense_Mutation_p.W1012*|DMBT1_uc021qah.1_Nonsense_Mutation_p.W523*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W1022*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1022	SRCR 8.				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)				ATGACAGCTGGGACACCAATG	0.612000														338			40		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568970	49568970	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49568970C>T	uc021wxz.1	+	2	1495	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	DAG1_uc021wya.1_Silent_p.P342P|DAG1_uc021wyb.1_Silent_p.P342P|DAG1_uc021wyc.1_Silent_p.P342P|DAG1_uc021wyd.1_Silent_p.P342P|DAG1_uc021wye.1_Silent_p.P342P|DAG1_uc021wyf.1_Silent_p.P342P|DAG1_uc021wyg.1_Silent_p.P342P|DAG1_uc021wyh.1_Silent_p.P342P|DAG1_uc021wyi.1_Silent_p.P342P|DAG1_uc021wyj.1_Silent_p.P342P|DAG1_uc021wyk.1_Silent_p.P342P|DAG1_uc003cxc.4_Silent_p.P342P	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	342	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCCAACCCCCACATCTCCAG	0.627000														88			8		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984964	140984964	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140984964A>C	uc011mwp.2	+	6	1420	c.1420A>C	c.(1420-1422)Aaa>Caa	p.K474Q	MAGEC3_uc004fbs.3_Missense_Mutation_p.K176Q|MAGEC3_uc010nsj.3_Missense_Mutation_p.K176Q|MAGEC3_uc022cfh.1_Missense_Mutation_p.K176Q	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	474	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATATCAAACAAAAGAGCCTGT	0.458000														36			7		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57992319	57992319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57992319C>T	uc002emt.2	-	10	897	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	CNGB1_uc010cdh.2_Missense_Mutation_p.E272K|CNGB1_uc002emu.2_Missense_Mutation_p.E278K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	278					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTGACCTGTTCCCCTATTTTC	0.617000														54			8		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236914814	236914814	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236914814G>A	uc001hyf.2	+	14	1905	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	ACTN2_uc001hyg.2_Silent_p.E359E|ACTN2_uc009xgi.1_Silent_p.E567E|ACTN2_uc010pxu.1_Silent_p.E256E	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	567					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCTGCCCGAGGCGGACGGAG	0.522000														68			5		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109691019	109691019	+	Missense_Mutation	SNP	C	T	T	rs149337252		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:109691019C>T	uc004bcz.3	+	2	5115	c.4826C>T	c.(4825-4827)tCc>tTc	p.S1609F	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S1457F|ZNF462_uc004bda.3_Missense_Mutation_p.S1457F	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1609					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GATGTCTTTTCCCAGTCGCCC	0.542000														60			4		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149148	52149148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52149148G>A	uc002pxf.4	-	2	707	c.587C>T	c.(586-588)tCg>tTg	p.S196L		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	196	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)		GGTGAGCTCCGAGGAGCGGGT	0.642000														19			7		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497682	61497682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61497682C>T	uc002jal.4	+	24	4362	c.4339C>T	c.(4339-4341)Ccc>Tcc	p.P1447S	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.P558S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1447							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACCCTCCTCTCCCCCGCATCG	0.582000														53			4		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842024	8842024	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8842024T>A	uc010xkg.2	+	0	634	c.634T>A	c.(634-636)Tcc>Acc	p.S212T		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCCCTCTTTCCCTCATCGC	0.592000														49			6		0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46786217	46786217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46786217C>T	uc010hjl.3	-	0	64	c.29G>A	c.(28-30)aGc>aAc	p.S10N	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	10	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CATCCGGAGGCTCACCTCCCA	0.597000														28			4		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21862530	21862530	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:21862530C>T	uc003xaa.4	+	27	3297	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	1065					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGTCAGCATTCCGTCGAGAAG	0.468000														94			14		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203143640	203143640	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203143640G>A	uc001gzh.1	-	2	485	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	142	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ACACGCGCAGGAGGAACTTGT	0.637000														45			4		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633422	3633422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3633422G>A	uc002cvp.2	-	13	5456	c.4829C>T	c.(4828-4830)tCc>tTc	p.S1610F		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1610	Interaction with MUS81.|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						CTCGTCCTCGGAGTCTGAGTC	0.602000								Direct reversal of damage						90			13		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120385251	120385251	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120385251C>T	uc002tmb.3	+	16	1793	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PCDP1_uc010yyq.2_Silent_p.F357F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	513						cilium	calmodulin binding					Colorectal(110;0.196)					TCAAATTCTTCCTGAGGCGGA	0.468000														95			7		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616252	73616252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:73616252C>T	uc002avp.3	-	7	3176	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	728					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGTTGAGGTCGTGCTGGACT	0.592000														82			5		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772866	51772866	+	Missense_Mutation	SNP	G	A	A	rs143319761		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51772866G>A	uc010ufy.2	-	23	6662	c.6437C>T	c.(6436-6438)tCg>tTg	p.S2146L	DMXL2_uc002abd.3_Missense_Mutation_p.S216L|DMXL2_uc002abf.3_Missense_Mutation_p.S2146L|DMXL2_uc010bfa.3_Missense_Mutation_p.S1510L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2146						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTGCAACCACGACTTTCGTCT	0.458000														88			7		0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11116698	11116698	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11116698G>A	uc001arz.1	-	3	589	c.498C>T	c.(496-498)gcC>gcT	p.A166A		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	166					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TCACGTCGAAGGCATCCTGAT	0.557000														53			4		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739395	26739395	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26739395G>A	uc002rhk.3	-	4	527	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	134					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)					TCATCTCCCAGGAAGTCCCCA	0.642000														123			7		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42244161	42244161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42244161C>T	uc003cky.3	+	12	1877	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	TRAK1_uc011azh.2_Missense_Mutation_p.S554F|TRAK1_uc011azi.2_Missense_Mutation_p.S554F|TRAK1_uc003ckz.4_Missense_Mutation_p.S480F|TRAK1_uc011azj.2_Missense_Mutation_p.S480F|TRAK1_uc003cla.3_Missense_Mutation_p.S496F	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	554					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						TCCCGCTTCTCCGAGTTCACC	0.642000														62			8		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32513814	32513814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:32513814C>T	uc002yow.1	-	21	3956	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	TIAM1_uc011adk.1_Missense_Mutation_p.D1162N|TIAM1_uc011adl.1_Missense_Mutation_p.D1102N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1162	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAAGCCGTGTCTGTCTTGGCT	0.562000														88			23		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47193361	47193361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:47193361C>T	uc003bib.3	+	3	647	c.481C>T	c.(481-483)Cct>Tct	p.P161S	TBC1D22A_uc010haf.3_Missense_Mutation_p.P131S|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.P114S	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	161						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGATGCCGCCCCTCTGCAGAG	0.637000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			12		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045536	35045536	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35045536G>A	uc003zvw.3	+	1	2939	c.2910G>A	c.(2908-2910)ggG>ggA	p.G970G	C9orf131_uc003zvu.3_Silent_p.G922G|C9orf131_uc003zvv.3_Silent_p.G897G|C9orf131_uc003zvx.3_Silent_p.G935G	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	970										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAGTCACAGGGAAGAACCACC	0.552000														52			6		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159644573	159644573	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:159644573G>A	uc010kjv.3	+	6	980	c.780G>A	c.(778-780)ttG>ttA	p.L260L	FNDC1_uc010kjw.1_Silent_p.L208L	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	260	Fibronectin type-III 3.					extracellular region		p.E259K(1)		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)		AGGACGAATTGGATGTACCTG	0.478000														23			6		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780143	39780143	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39780143G>A	uc003xnm.3	+	5	624	c.510G>A	c.(508-510)gtG>gtA	p.V170V		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	170					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTCTATTGGTGGAAATAGCAG	0.408000														50			7		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677856	73677856	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73677856T>C	uc002sje.1	+	7	4310	c.4199T>C	c.(4198-4200)cTa>cCa	p.L1400P	ALMS1_uc002sjf.1_Missense_Mutation_p.L1358P|ALMS1_uc002sjg.3_Missense_Mutation_p.L788P|ALMS1_uc002sjh.1_Missense_Mutation_p.L788P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1400	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTAGTCATCTAACTGAAGAG	0.473000														31			3		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906672	38906672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38906672C>T	uc002hve.3	-	5	1196	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	379	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GTCTCAATTTCTTTTTCCAGG	0.498000														141			12		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323855	152323855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152323855G>A	uc001ezw.4	-	2	6480	c.6407C>T	c.(6406-6408)tCa>tTa	p.S2136L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2136							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCAGATCCTGACTCTCCATG	0.522000														105			21		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700988	30700988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30700988G>A	uc003xil.3	-	0	5546	c.5546C>T	c.(5545-5547)cCa>cTa	p.P1849L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1849										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGTTTTCCTGGATACGAATG	0.338000														40			4		0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880303	101880303	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101880303G>A	uc001tid.3	+	5	660	c.501G>A	c.(499-501)caG>caA	p.Q167Q	SPIC_uc010svp.2_Silent_p.Q167Q|SPIC_uc009zua.3_Silent_p.Q42Q|SPIC_uc021rcq.1_Silent_p.Q42Q	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TGACTTACCAGAAAATGGCCA	0.428000														40			6		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40761046	40761046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40761046C>T	uc003ayp.4	+	11	1413	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	ADSL_uc003ays.4_Intron	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	452			R -> P (in ADSL deficiency; severe).		AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	p.G451S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TTTCACTGGTCGTGCCTCCCA	0.488000														95			7		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901678	149901678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149901678G>A	uc001etl.4	-	15	2029	c.1778C>T	c.(1777-1779)cCt>cTt	p.P593L	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.P521L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	593	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)			AGCAGGTCGAGGGAGCCAACG	0.597000														58			5		0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362985	153362985	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153362985C>T	uc001fbs.3	-	1	197	c.27G>A	c.(25-27)ttG>ttA	p.L9L		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	9					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATAGAGTTCAAGGCTTTCT	0.507000														193			17		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16253978	16253978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:16253978G>A	uc002wpg.2	-	25	4033	c.3874C>T	c.(3874-3876)Ctc>Ttc	p.L1292F	KIF16B_uc002wpe.1_Missense_Mutation_p.L644F|KIF16B_uc002wpf.1_Missense_Mutation_p.L633F|KIF16B_uc010gch.2_Missense_Mutation_p.L1241F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1292	PX.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGTTTCGAGAGAGTCAGTCCC	0.488000														72			5		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350089	24350089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24350089G>A	uc003xeb.3	+	14	1747	c.1634G>A	c.(1633-1635)aGa>aAa	p.R545K	ADAM7_uc003xec.3_Missense_Mutation_p.R317K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	545	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGGAAAACAGATTTCTTCCC	0.388000														20			4		0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150416401	150416402	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150416401_150416402GG>AA	uc003lti.3	-	12	1585_1586	c.1344_1345CC>TT	c.(1342-1347)gccctc>gcTTtc	p.L449F	TNIP1_uc011dcn.2_5'Flank|TNIP1_uc010jhq.2_Missense_Mutation_p.L396F|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.L396F|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Missense_Mutation_p.L449F|TNIP1_uc010jhm.3_Missense_Mutation_p.L449F|TNIP1_uc010jhr.2_Missense_Mutation_p.L449F|TNIP1_uc011dco.2_Missense_Mutation_p.L449F|TNIP1_uc003ltg.3_Missense_Mutation_p.L396F|TNIP1_uc003ltk.3_Missense_Mutation_p.L449F|TNIP1_uc003ltj.3_Missense_Mutation_p.L449F|TNIP1_uc021ygb.1_Missense_Mutation_p.L449F	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	449					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTAGGAGGGCCCCTGCTC	0.574000														60			11		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39162599	39162599	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39162599C>T	uc003cjc.2	+	8	1213	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	TTC21A_uc011ayx.1_Silent_p.L297L|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	346							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTTCATCCTGAAGAACCA	0.517000														47			5		0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398313	38398313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:38398313G>A	uc003tgr.2	-	1	257	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	LOC100506776_uc003tgp.2_Intron					RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor;																		AGGTACCAGTGGATGTAGAAG	0.502000														108			6		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154351	248154351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248154351C>T	uc001idv.1	+	0	783	c.539C>T	c.(538-540)cCa>cTa	p.P180L	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						TATCTACGCCCAAGATCCCTG	0.512000														42			5		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968334	102968334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:102968334C>T	uc002tbu.1	+	10	1895	c.1624C>T	c.(1624-1626)Ccc>Tcc	p.P542S	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	542					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AAGCAAAATTCCCAGAAAGGC	0.488000														80			5		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661995	36661995	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661995G>A	uc003ape.3	+	6	1435	c.1161G>A	c.(1159-1161)ctG>ctA	p.L387L	APOL1_uc011amn.1_Silent_p.L248L|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.L248L|APOL1_uc003apf.3_Silent_p.L371L|APOL1_uc011amp.2_Silent_p.L371L|APOL1_uc011amq.2_Silent_p.L353L|APOL1_uc010gwx.3_Silent_p.L248L	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	371					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTGAGGAGCTGAAGAAGGTGG	0.498000														53			9		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20789480	20789480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:20789480C>T	uc003zog.1	+	12	1691	c.1328C>T	c.(1327-1329)cCt>cTt	p.P443L		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	443						integral to membrane	binding										TCATTGCTTCCTATTACTGCT	0.448000														18			3		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38509556	38509556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38509556G>A	uc003auy.1	-	14	2276	c.2140C>T	c.(2140-2142)Ccc>Tcc	p.P714S	PLA2G6_uc003auz.1_Missense_Mutation_p.P660S|PLA2G6_uc003ava.1_Missense_Mutation_p.P714S|PLA2G6_uc003avb.2_Missense_Mutation_p.P660S|PLA2G6_uc010gxk.1_Non-coding_Transcript|BAIAP2L2_uc003auw.3_5'Flank|PLA2G6_uc003aux.1_Missense_Mutation_p.P105L	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	714					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCTCCCAGGGGTTGCTGGGA	0.607000														102			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106602632	106602632	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106602632C>T	uc021ser.1	-	1717		c.32800G>A								Parts of antibodies, mostly variable regions.																		TCCATGTAGGCTGTGCTCGTG	0.507000														57			4		0	0	1	0	0
POLR3K	51728	broad.mit.edu	37	16	97479	97479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:97479G>A	uc002cfi.2	-	2	324	c.278C>T	c.(277-279)aCc>aTc	p.T93I		NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa (POLR3K), mRNA.	93					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTTGTAGAAGGTGGTCATCGG	0.552000														55			10		0	0	1	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206570	142206570	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142206570G>A	uc003vyj.2	-	1	332	c.285C>T	c.(283-285)ctC>ctT	p.L95L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		ACTCCAGAGTGAGGGGGAAAT	0.527000														61			16		0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140699256	140699256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140699256C>T	uc003ljg.3	-	0	1096	c.356G>A	c.(355-357)aGc>aAc	p.S119N		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	119					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTTCTTGCTTGCTTTAGG	0.438000														81			5		0	0	1	0	0
BNIP3L	665	broad.mit.edu	37	8	26265853	26265853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26265853C>T	uc003xex.1	+	4	696	c.572C>T	c.(571-573)cCa>cTa	p.P191L	BNIP3L_uc010luh.1_Missense_Mutation_p.P84L|BNIP3L_uc010lui.1_Missense_Mutation_p.P151L|BNIP3L_uc003xey.2_Missense_Mutation_p.P151L	NM_004331	NP_004322	O60238	BNI3L_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3-like (BNIP3L), mRNA.	191					apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		GTGTTCATTCCATCTCTCTTC	0.413000														101			7		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184723	153184723	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153184723G>A	uc004fjk.2	-	5	754	c.696C>T	c.(694-696)ttC>ttT	p.F232F	ARHGAP4_uc011mzf.2_Silent_p.F209F|ARHGAP4_uc004fjl.2_Silent_p.F272F|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	232					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					TGTGCTCCATGAACTTGGCCT	0.557000														41			5		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46790096	46790096	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46790096G>A	uc003bhw.1	-	13	5907	c.5907C>T	c.(5905-5907)gcC>gcT	p.A1969A	CELSR1_uc011arc.1_Silent_p.A290A	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1969	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.C1968F(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTTGCTGACGGCACAGTGGC	0.587000														68			5		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233445	43233445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43233445G>A	uc002oue.3	-	4	1205	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S358F	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	358	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGTGGGTTAGAGTCCGCGAA	0.453000														85			15		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814281	242814281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242814281G>A	uc010fzu.1	+	1	597	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	192						integral to membrane											GTCCACCCCTGGCGACGACCT	0.677000														24			6		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803006	157803006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157803006C>T	uc001frk.4	-	4	1158	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	339	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCACATCTTCCTGGTGGGTG	0.542000														73			14		0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938159	116938159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116938159C>T	uc003pxe.2	+	0	518	c.373C>T	c.(373-375)Cct>Tct	p.P125S	RSPH4A_uc010kee.2_Missense_Mutation_p.P125S	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	125					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACACCTTATCCTGATCCTTT	0.517000									Kartagener syndrome					65			8		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235322	8235322	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:8235322G>A	uc003wsh.4	-	1	597	c.597C>T	c.(595-597)gaC>gaT	p.D199D		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	199							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGAGGGCCGGTCTTGGTAAG	0.622000														74			6		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588001	113588001	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113588001G>A	uc002tii.1	-	6	834	c.747C>T	c.(745-747)ttC>ttT	p.F249F	IL1B_uc002tih.1_Silent_p.F218F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	249					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TCCCTCCCAGGAAGACGGGCA	0.478000														110			15		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33427661	33427661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:33427661C>T	uc003tdn.1	+	18	2533	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	BBS9_uc003tdo.1_Missense_Mutation_p.R639W|BBS9_uc003tdp.1_Missense_Mutation_p.R669W|BBS9_uc003tdq.1_Missense_Mutation_p.R634W|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.R198W|BBS9_uc003tds.1_Missense_Mutation_p.R97W	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	674					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R674L(1)|p.R674Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTACAATTTCGGGCCATTCA	0.403000									Bardet-Biedl syndrome					134			19		0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279642	1279642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1279642C>T	uc002cky.3	-	2	181	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	53	Peptidase S1.		HGP -> RDR (in beta-III).		proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CATCCAGTATCGGTCGCGGAC	0.701000														56			5		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033975	30033975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:30033975C>T	uc021qfi.1	-	0	251	c.251G>A	c.(250-252)aGg>aAg	p.R84K	KCNA4_uc001msk.3_Missense_Mutation_p.R84K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	84				RRRRQ -> EEEAT (in Ref. 1; AAA60034).		voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R83Q(2)|p.R84M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCGCCTCCTCCTCCGACTACC	0.632000														60			5		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11511593	11511593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:11511593C>T	uc002gne.3	+	1	633	c.565C>T	c.(565-567)Cca>Tca	p.P189S	DNAH9_uc002gnd.1_Missense_Mutation_p.P189S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	189	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGCCTCTTCCAGCAGGCTC	0.507000														85			8		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90101239	90101239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:90101239G>A	uc003kju.3	+	71	14896	c.14800G>A	c.(14800-14802)Gaa>Aaa	p.E4934K	GPR98_uc003kjt.3_Missense_Mutation_p.E2640K|GPR98_uc003kjw.3_Missense_Mutation_p.E595K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4934					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)		AGAAATTCCTGAATTCATTGT	0.458000														28			8		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909211	65909212	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:65909211_65909212CC>TT	uc002jgf.3	+	10	5272_5273	c.5211_5212CC>TT	c.(5209-5214)atccga>atTTga	p.R1738*	BPTF_uc002jge.3_Nonsense_Mutation_p.R1864*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1864	Thr-rich.				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)			AAGGAGGAATCCGAGAGGTCCC	0.406000														84			12		0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5353595	5353595	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5353595G>A	uc002gca.3	-	9	1857	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	DHX33_uc002gbz.3_Silent_p.F323F|DHX33_uc002gcb.3_Silent_p.F379F|DHX33_uc010clf.3_Silent_p.F387F	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	552						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGGATATGAACTTCTTGC	0.542000														163			15		0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40328403	40328403	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40328403G>A	uc002omn.3	-	5	744	c.630C>T	c.(628-630)atC>atT	p.I210I	FBL_uc002omm.1_Silent_p.I124I|FBL_uc002omo.2_Silent_p.I209I	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	210					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCACAGGAATGATGTTGGTCC	0.532000														85			9		0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774931	234774931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234774931G>A	uc010znf.2	-	1	1149	c.911C>T	c.(910-912)tCc>tTc	p.S304F						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		CTCAGTAAAGGACATTTTTCC	0.438000														46			7		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511407	61511407	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61511407G>A	uc002ydr.2	-	15	6213	c.5901C>T	c.(5899-5901)ttC>ttT	p.F1967F	DIDO1_uc002yds.2_Silent_p.F1967F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1967	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTGGTCTTCGAACTGCTGAG	0.572000														248			36		0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33134452	33134452	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33134452C>T	uc001bvr.3	+	4	756	c.597C>T	c.(595-597)gaC>gaT	p.D199D	RBBP4_uc001bvs.3_Silent_p.D198D|RBBP4_uc010ohj.2_5'UTR|RBBP4_uc010ohk.2_Silent_p.D164D	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	199					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding	p.D199G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTTCAGATGACCATGTGTGTA	0.458000														61			4		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028440	102028440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102028440C>T	uc021sdx.1	+	0	753	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	177					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGAAGCGCACCCCTCCGACGG	0.637000														96			9		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262155	158262155	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158262155G>A	uc001fru.3	+	3	902	c.610_splice	c.e3+1	p.V204_splice	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	204					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ACACAGGCAAGGTCAGTAGTT	0.463000														138			8		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94054921	94054921	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:94054921G>A	uc003ung.1	+	43	3253	c.2782_splice	c.e43-1	p.G928_splice	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	928					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGTCTTCACAGGGCAACCCTG	0.488000										HNSCC(75;0.22)				25			4		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44432451	44432451	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44432451C>T	uc001ckx.3	+	16	3315	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	IPO13_uc001cky.3_Silent_p.F58F	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	840					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)				CCTGTGGCTTCTTTGTGAGTC	0.587000														30			6		0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547733	125547733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:125547733C>T	uc001qcs.3	-	1	630	c.512G>A	c.(511-513)gGg>gAg	p.G171E	ACRV1_uc001qcl.3_Missense_Mutation_p.G101E|ACRV1_uc001qcn.3_Missense_Mutation_p.G116E|ACRV1_uc001qcr.3_Intron	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	171	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCCTGTTCCCCTGAAGCGTG	0.542000														35			10		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065338	73065338	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:73065338G>A	uc004ebm.1	-	0		c.7251C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GAAGGGAAAGGAAGATTGGAG	0.463000														24			5		0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74546825	74546826	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:74546825_74546826CC>TT	uc001ovl.4	+	5	1190_1191	c.1177_1178CC>TT	c.(1177-1179)ccc>TTc	p.P393F	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	393							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ATGTACTCCTCCCAAGAGACTC	0.505000														77			4		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285991	152285991	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152285991C>T	uc001ezu.1	-	2	1407	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	457	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R457L(1)		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)			GTTCCCCTGACCGGCCACGTG	0.587000									Ichthyosis					155			23		0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798418	53798418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:53798418G>A	uc002iuj.4	-	1	325	c.14C>T	c.(13-15)cCc>cTc	p.P5L	TMEM100_uc002iuk.4_Missense_Mutation_p.P5L|TMEM100_uc021uai.1_Missense_Mutation_p.P5L	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	5						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CTCCTTGATGGGCTCTTCAGT	0.502000														29			4		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143771320G>A	uc011ktx.2	+	0	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000														72			6		0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212831	43212831	+	Missense_Mutation	SNP	C	T	T	rs146002380	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43212831C>T	uc001chx.4	-	13	2280	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	LEPRE1_uc001chw.2_Intron|LEPRE1_uc001chv.2_Intron	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGCTCCTTTCGTGTCTCAGC	0.587000														87			17		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113887169	113887169	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113887169C>T	uc002tjb.3	+	1	197	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Nonsense_Mutation_p.Q48*|IL1RN_uc002tiy.3_Nonsense_Mutation_p.Q11*|IL1RN_uc002tja.3_Nonsense_Mutation_p.Q27*	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	45					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	GGATGTTAACCAGAAGACCTT	0.483000									Lichen Sclerosis et Atrophicus, Familial Clustering of					112			14		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167617384	167617384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167617384C>T	uc010jjd.3	+	13	2585	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	ODZ2_uc003lzr.4_Missense_Mutation_p.S639L|ODZ2_uc003lzt.4_Missense_Mutation_p.S235L|ODZ2_uc010jje.3_Missense_Mutation_p.S133L	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)		TGCCTGCAGTCAGCCTGTCAG	0.582000														15			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531011	92531011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92531011G>A	uc001pdj.4	+	8	4849	c.4832G>A	c.(4831-4833)gGg>gAg	p.G1611E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1611	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)				GGGAACACTGGGAACATGTTT	0.398000										TCGA Ovarian(4;0.039)				52			8		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667891	25667891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25667891C>T	uc003grr.3	+	4	602	c.521C>T	c.(520-522)tCa>tTa	p.S174L	SLC34A2_uc003grs.3_Missense_Mutation_p.S173L|SLC34A2_uc010iev.3_Missense_Mutation_p.S173L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	174					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTGTCCTCTTCATGTGAGTCG	0.572000			T	ROS1	NSCLC									55			5		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207133126	207133126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207133126C>T	uc001hfa.4	-	6	1971	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	FCAMR_uc001hfb.3_Missense_Mutation_p.M223I|FCAMR_uc009xca.2_Missense_Mutation_p.M223I	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	446						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GAGCTGCTTTCATCTTCTGGA	0.507000														88			14		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322618	55322618	+	Missense_Mutation	SNP	G	A	A	rs72140406		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55322618G>A	uc010rig.2	+	0	836	c.836G>A	c.(835-837)aGa>aAa	p.R279K		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L278P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTCTCTCTGAGAACACACAGT	0.443000										HNSCC(20;0.049)				63			4		0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6205193	6205193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:6205193C>T	uc003spt.3	-	10	1059	c.955G>A	c.(955-957)Gag>Aag	p.E319K	CYTH3_uc011jws.2_Missense_Mutation_p.E234K	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	320	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CGGGGGTCCTCCACCTCCCTG	0.612000														84			24		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885275	88885275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:88885275C>T	uc003ydz.3	-	0	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	309										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						ACATGACCTTCGTACTGTGTT	0.517000														46			5		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736383	16736383	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16736383C>T	uc001ayn.3	-	5	783	c.300G>A	c.(298-300)cgG>cgA	p.R100R	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.R77R	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	100							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCGAGGCTCTCCGATGGGAGG	0.662000														54			6		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402264	26402264	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:26402264C>T	uc001uqk.3	+	27	2830	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	ATP8A2_uc010tdi.2_Intron|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.F446F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	856					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F896F(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCTTTGGTTCGCCTTTGTTA	0.403000														102			13		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797810	71797810	+	Missense_Mutation	SNP	G	A	A	rs150877497		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71797810G>A	uc010fen.3	+	28	3308	c.3167G>A	c.(3166-3168)cGa>cAa	p.R1056Q	DYSF_uc010fei.3_Missense_Mutation_p.R1055Q|DYSF_uc010feh.3_Missense_Mutation_p.R1024Q|DYSF_uc002sig.4_Missense_Mutation_p.R1024Q|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1069Q|DYSF_uc010fee.3_Missense_Mutation_p.R1038Q|DYSF_uc010fef.3_Missense_Mutation_p.R1055Q|DYSF_uc002sie.3_Missense_Mutation_p.R1038Q|DYSF_uc010feo.3_Missense_Mutation_p.R1070Q|DYSF_uc010fej.3_Missense_Mutation_p.R1025Q|DYSF_uc010fel.3_Missense_Mutation_p.R1025Q|DYSF_uc010fem.3_Missense_Mutation_p.R1039Q|DYSF_uc002sif.3_Missense_Mutation_p.R1039Q|DYSF_uc010fek.3_Missense_Mutation_p.R1056Q	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1038	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACACACACCGACGGCGGCGC	0.642000														31			6		0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196754651	196754651	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:196754651G>A	uc003fxk.4	-	1	294	c.180C>T	c.(178-180)gcC>gcT	p.A60A	MFI2_uc003fxl.4_Silent_p.A60A|MFI2_uc011bua.2_Silent_p.A60A	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	60	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGCAGTGGTCGGCGGAGGTGC	0.662000														10			4		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927357	95927357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:95927357C>T	uc001teg.3	-	1	820	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	USP44_uc001teh.3_Missense_Mutation_p.E226K|USP44_uc009zte.3_Missense_Mutation_p.E223K	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	226					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.E226Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAAACTATTTCTATTATGGTC	0.408000														37			5		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:23966723G>A	uc002wts.3	-	2	427	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_uc002wtu.3_Silent_p.F98F|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000														101			7		0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44514923	44514923	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44514923C>T	uc003bem.3	+	4	508	c.378C>T	c.(376-378)ctC>ctT	p.L126L	PARVB_uc003ben.3_Silent_p.L93L|PARVB_uc010gzn.3_Silent_p.L41L|PARVB_uc003beo.3_Silent_p.L56L	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	93	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGGTCCTCCTCGACTGGA	0.572000														108			7		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43122227	43122227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43122227G>A	uc001zqo.2	-	4	780	c.341C>T	c.(340-342)aCc>aTc	p.T114I	TTBK2_uc010bcy.2_Missense_Mutation_p.T45I|TTBK2_uc001zqp.3_Missense_Mutation_p.T114I	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	114	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGTACTAATGGTGAATGTGCC	0.443000														32			4		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109104200	109104200	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:109104200C>T	uc002tec.3	+	16	4130	c.3976C>T	c.(3976-3978)Cga>Tga	p.R1326*	GCC2_uc002ted.3_Nonsense_Mutation_p.R1225*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1326					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CTACAAAGTCCGAGTTCATAA	0.358000														44			7		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784088	24784088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:24784088G>A	uc001iru.4	+	7	2200	c.1797G>A	c.(1795-1797)atG>atA	p.M599I	KIAA1217_uc001irs.3_Missense_Mutation_p.M519I|KIAA1217_uc001irt.4_Missense_Mutation_p.M564I|KIAA1217_uc010qcy.2_Missense_Mutation_p.M564I|KIAA1217_uc010qcz.2_Missense_Mutation_p.M564I|KIAA1217_uc001irv.1_Missense_Mutation_p.M414I|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.M282I|KIAA1217_uc001irz.3_Missense_Mutation_p.M282I|KIAA1217_uc001irx.3_Missense_Mutation_p.M282I|KIAA1217_uc001iry.3_Missense_Mutation_p.M282I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	599					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAAATGATGAAAACCACAG	0.433000														30			4		0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66339802	66339802	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66339802C>T	uc002jhc.2	+	2	1072	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	92					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTCCTTGCTCACCGGCCGGC	0.607000														68			10		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996533	10996533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:10996533C>T	uc002daj.4	+	7	783	c.650C>T	c.(649-651)tCg>tTg	p.S217L	CIITA_uc002dai.4_Missense_Mutation_p.S216L|CIITA_uc002dak.4_Missense_Mutation_p.S167L|CIITA_uc002dag.2_Missense_Mutation_p.S216L|CIITA_uc002dah.2_Missense_Mutation_p.S168L|CIITA_uc010bup.1_Missense_Mutation_p.S216L	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	216					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCAGTTCCTCGTTGAGCTGC	0.522000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									49			10		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779221	36779221	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779221C>T	uc003cgi.2	-	1	1421	c.930G>A	c.(928-930)agG>agA	p.R310R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	310						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGAGTCATCCTTCTGCCTC	0.572000														141			9		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62654191	62654191	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62654191T>G	uc002yho.3	+	12	1897	c.1729T>G	c.(1729-1731)Tgg>Ggg	p.W577G	PRPF6_uc002yhp.3_Missense_Mutation_p.W577G	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	577					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAAGAGTGTGTGGCTGCGCGC	0.577000														53			9		0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29581596	29581596	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:29581596C>T	uc001iul.3	+	2	483	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	96					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.V142V(2)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ACTGCCATGTCGCCTGCTCAG	0.537000														101			7		0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78560802	78560802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:78560802C>T	uc001dik.3	+	2	783	c.593C>T	c.(592-594)cCt>cTt	p.P198L	5S_rRNA_uc021oov.1_5'Flank	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	198						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTAATAGAACCTAAGAAGGCA	0.383000														44			5		0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109964529	109964529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109964529G>A	uc001dxn.3	-	1	167	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PSMA5_uc010ovj.2_Intron|PSMA5_uc021ord.1_5'UTR|PSMA5_uc021ore.1_5'UTR	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	17					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|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CTTCCTTCGGGAGAAAAAGTA	0.338000														171			10		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843217	7843217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7843217C>T	uc001qte.3	-	1	388	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	118					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTTCCCTTTCTTTGATGGCA	0.488000														89			9		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097246	167097246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167097246G>A	uc001geb.1	+	4	2894	c.2878G>A	c.(2878-2880)Ggg>Agg	p.G960R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	960	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGTTCCAGAGGGAAGTACAC	0.488000														24			5		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974046	49974046	+	Silent	SNP	C	T	T	rs146933611	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:49974046C>T	uc010rhz.2	+	0	104	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAGAAAATCATATTTGTTG	0.388000														30			5		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272066	164272066	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164272066C>A	uc003iqn.3	+	3	823	c.641C>A	c.(640-642)tCt>tAt	p.S214Y	NPY5R_uc021xtw.1_Missense_Mutation_p.S214Y	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	214					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTACTATCTCTTTATTGCTA	0.383000														97			8		0.00307968	0.00310426	1	1	0
YME1L1	10730	broad.mit.edu	37	10	27437927	27437927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27437927G>A	uc001iti.3	-	1	286	c.76C>T	c.(76-78)Cca>Tca	p.P26S	YME1L1_uc001itj.3_Missense_Mutation_p.P26S|YME1L1_uc010qdl.2_Missense_Mutation_p.P26S|YME1L1_uc001itk.2_Missense_Mutation_p.P26S	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	26					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGTTTTTTGGTGTATGGAAG	0.378000														164			51		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231036812	231036812	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231036812C>T	uc002vqg.3	-	15	2025	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	SP110_uc002vqh.3_Silent_p.L595L	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	595	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTGCCTCTCCAGGGTCTTAG	0.522000														105			11		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144821989	144821989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:144821989C>T	uc009wig.1	+	13	1894	c.1700C>T	c.(1699-1701)tCa>tTa	p.S567L	NBPF10_uc010oxo.1_Missense_Mutation_p.S569L|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Intron|NBPF10_uc009wii.1_Missense_Mutation_p.S298L|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.S229L	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	569										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCGACTCCCTCAATTCCTCCT	0.502000														99			6		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72477888	72477888	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72477888C>T	uc002jkv.3	+	5	1011	c.690C>T	c.(688-690)caC>caT	p.H230H	CD300A_uc002jkw.3_Silent_p.H117H|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Silent_p.H34H	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	230					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GTGAGCTGCACTACGCAAATC	0.622000														16			5		0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66391954	66391954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66391954C>T	uc001oit.3	+	1	746	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_5'Flank	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	203					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGGCAAGCCCGTCAGCCCAC	0.632000														46			4		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272366	158272366	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:158272366C>T	uc002tzj.1	-	7	975	c.903G>A	c.(901-903)agG>agA	p.R301R	CYTIP_uc010zcl.1_Silent_p.R195R	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	301	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGCTCCGGTTCCTCCTTGAAG	0.547000														36			5		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846565	228846565	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228846565G>A	uc002vpq.2	-	11	5018	c.4971C>T	c.(4969-4971)gtC>gtT	p.V1657V	SPHKAP_uc002vpp.2_Silent_p.V1628V|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1657						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGCTGCACGACATCTAGAA	0.498000														11			3		0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40842102	40842102	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40842102T>A	uc002oni.4	-	3	249	c.248A>T	c.(247-249)aAt>aTt	p.N83I	C19orf47_uc002ong.3_5'UTR|C19orf47_uc002onh.3_Missense_Mutation_p.N16I	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	83										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TATCTCCTTATTGAGATCCAG	0.597000														52			8		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161929	239161929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239161929G>A	uc002vyc.3	-	18	2972	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	PER2_uc010znv.1_Missense_Mutation_p.S912F	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	912	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGAGGGGAAGGAATAACTGGG	0.627000														72			24		0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115120642	115120642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:115120642C>T	uc001tvt.1	-	0	1328	c.364G>A	c.(364-366)Gag>Aag	p.E122K	TBX3_uc001tvu.1_Missense_Mutation_p.E122K|TBX3_uc010syw.1_Missense_Mutation_p.E122K	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	122					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGACCATCTCGGTGCCCCGC	0.542000														82			8		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714447	6714448	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6714447_6714448CC>AT	uc002mfm.3	-	4	576_577	c.514_515GG>AT	c.(514-516)ggc>ATc	p.G172I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	172					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GACCGGGATGCCTTCCGGGTTC	0.564000														33			9		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960660	50960660	+	Missense_Mutation	SNP	C	T	T	rs143986871	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50960660C>T	uc003blx.4	+	13	1335	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	NCAPH2_uc003blv.3_Missense_Mutation_p.R405W|NCAPH2_uc003blr.4_Missense_Mutation_p.R405W	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	405					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAAACTCTCCGGAAGCTGCA	0.607000														51			4		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15367917	15367917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15367917G>A	uc002nar.3	-	7	1631	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	BRD4_uc002nas.3_Missense_Mutation_p.S470F|BRD4_uc002nat.3_Missense_Mutation_p.S470F|BRD4_uc002nau.4_Missense_Mutation_p.S470F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	470					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACTGCCGGGGAGGACACGGC	0.617000			T	C15orf55	lethal midline carcinoma of young people									43			6		0	0	1	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22236791	22236791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22236791G>A	uc001wbt.1	+	0	63	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		TTGGGGAGACGAATGGAGTCA	0.478000														79			9		0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89924777	89924777	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89924777C>T	uc002foz.1	+	7	1186	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	SPIRE2_uc010civ.1_Silent_p.A293A|SPIRE2_uc010ciw.1_Silent_p.A378A|SPIRE2_uc002fpa.1_Silent_p.A330A|SPIRE2_uc010cix.1_Silent_p.A245A	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	378					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCCTCAACGCCTGCTCCGGAG	0.677000														113			17		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003196	122003196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:122003196G>A	uc003eew.4	+	6	2863	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	CASR_uc003eev.4_Missense_Mutation_p.E799K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	799					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAAGCTGCCGGAGAACTTCAA	0.547000														38			4		0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46190722	46190722	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:46190722C>T	uc002inf.1	+	4	543	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNX11_uc010wlg.1_Silent_p.F55F|SNX11_uc002ing.1_Silent_p.F63F|SNX11_uc010wlh.1_Silent_p.F55F|SNX11_uc010wli.1_Intron|SNX11_uc010wlj.1_5'UTR|SNX11_uc002inh.1_Silent_p.F63F	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	63	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						ACCGTGAGTTCGTGTGGCTGA	0.478000														217			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091517	9091517	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9091517T>C	uc002mkp.3	-	0	502	c.298A>G	c.(298-300)Aga>Gga	p.R100G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	100	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						GGGCTGGTTCTTTGCTCGGAG	0.537000														84			6		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31438930	31438930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:31438930G>A	uc001bsi.1	-	12	2098	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	PUM1_uc001bsf.1_Missense_Mutation_p.S328F|PUM1_uc001bsh.1_Missense_Mutation_p.S662F|PUM1_uc001bsj.1_Missense_Mutation_p.S636F|PUM1_uc010oga.1_Missense_Mutation_p.S518F|PUM1_uc001bsk.1_Missense_Mutation_p.S698F|PUM1_uc010ogb.1_Missense_Mutation_p.S603F	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	662	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGCCCTGGGAGAAGAGGGA	0.582000														102			14		0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396945	36396945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36396945G>A	uc003tfd.2	-	2	484	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	KIAA0895_uc003tfc.2_Missense_Mutation_p.R132C|KIAA0895_uc011kax.1_Missense_Mutation_p.R94C|KIAA0895_uc003tfb.2_Missense_Mutation_p.R94C|KIAA0895_uc011kaw.2_5'UTR|KIAA0895_uc003tfe.3_Missense_Mutation_p.R132C|KIAA0895_uc011kay.2_Missense_Mutation_p.R94C	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	145										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTTTGCTACGAGAAGTGTTA	0.468000														35			7		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3611705	3611705	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3611705G>A	uc010btn.3	-	5	2424	c.2013C>T	c.(2011-2013)atC>atT	p.I671I		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	671					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTGTTACCTGATCTTCTGAA	0.617000														78			8		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43057117	43057117	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43057117G>A	uc002xma.3	+	8	1361	c.1272G>A	c.(1270-1272)agG>agA	p.R424R	HNF4A_uc002xlu.3_Intron|HNF4A_uc002xlv.3_Silent_p.R402R|HNF4A_uc010ggq.3_Silent_p.R417R|HNF4A_uc002xlz.3_Intron	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	424					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCGACCCAGGGGACAGGCAG	0.547000														191			11		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680798	128680798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:128680798C>T	uc010sbu.2	+	8	1617	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	FLI1_uc010sbt.2_Missense_Mutation_p.S232F|FLI1_uc010sbv.2_Missense_Mutation_p.S392F|FLI1_uc009zci.3_Missense_Mutation_p.S359F	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	425					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TACTGGACCTCCCCCACGGGG	0.567000			T	EWSR1	Ewing sarcoma									51			5		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70446316	70446316	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	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														67			6		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970341	123970341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123970341C>T	uc001lfv.3	+	8	6761	c.6401C>T	c.(6400-6402)tCc>tTc	p.S2134F	TACC2_uc001lfw.3_Missense_Mutation_p.S280F|TACC2_uc009xzx.3_Missense_Mutation_p.S2089F|TACC2_uc010qtv.2_Missense_Mutation_p.S2138F|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.S212F|TACC2_uc001lga.3_Missense_Mutation_p.S212F|TACC2_uc009xzy.3_Missense_Mutation_p.S212F|TACC2_uc001lgb.3_Missense_Mutation_p.S169F|TACC2_uc010qtw.1_Missense_Mutation_p.S229F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2134						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGCCGCCTTCCTTAAAAAAG	0.557000														95			9		0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80963040	80963040	+	Missense_Mutation	SNP	C	T	T	rs142855993	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80963040C>T	uc002kgg.1	-	5	469	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	B3GNTL1_uc002kgf.1_Missense_Mutation_p.R41Q|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	152							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACGTGTGTATCGTTCGGTGGA	0.572000														145			17		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476784	102476784	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102476784C>T	uc001yks.2	+	30	6557	c.6393C>T	c.(6391-6393)ctC>ctT	p.L2131L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2131					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGAAAATCTCCCTGAACAAG	0.388000														13			3		0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20225193	20225193	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:20225193G>A	uc003cbu.3	-	2	401	c.246C>T	c.(244-246)atC>atT	p.I82I	SGOL1_uc003cbw.3_Silent_p.I82I|SGOL1_uc003cbv.3_Silent_p.I82I|SGOL1_uc003cbt.3_Silent_p.I82I|SGOL1_uc010hfa.3_Silent_p.I82I|SGOL1_uc003cbs.3_Silent_p.I82I|SGOL1_uc003cbr.3_Silent_p.I82I|SGOL1_uc003ccc.3_Silent_p.I82I|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Silent_p.I82I|SGOL1_uc003cca.3_Silent_p.I82I|SGOL1_uc003cby.3_Silent_p.I82I|SGOL1_uc003cbx.3_Silent_p.I82I|SGOL1_uc003cbz.3_Silent_p.I82I	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	82	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TCAGCTGTAGGATGATATCTT	0.343000														54			10		0	0	1	0	0
PXT1	222659	broad.mit.edu	37	6	36359601	36359601	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36359601G>A	uc003omd.2	-	4	835	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_152990	NP_694535	Q8NFP0	PXT1_HUMAN	Homo sapiens peroxisomal, testis specific 1 (PXT1), mRNA.	34						peroxisome											CTCTTCTAAAGAAAAAGAAGA	0.343000														84			9		0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525483	31525483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31525483C>T	uc003nub.3	+	2	532	c.413C>T	c.(412-414)cCt>cTt	p.P138L	NFKBIL1_uc011dnr.2_Missense_Mutation_p.P115L|NFKBIL1_uc011dns.2_Missense_Mutation_p.P115L|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Missense_Mutation_p.P138L	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	138					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GGGGAGACCCCTGGCCAAATT	0.577000														39			5		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76465412	76465412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:76465412G>A	uc003yaq.3	+	5	754	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	HNF4G_uc003yar.3_Missense_Mutation_p.E199K	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	162					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGCCTTCTGTGAATTACCATT	0.323000														7			3		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167293760	167293760	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167293760C>T	uc003fev.1	-	3	736	c.432G>A	c.(430-432)gtG>gtA	p.V144V	WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Silent_p.V197V|WDR49_uc003few.1_Silent_p.V485V	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	144										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATGGCTTTTCACCCTCTTGC	0.403000														41			8		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036459	21036459	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21036459C>T	uc010sil.2	+	10	1670	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	SLCO1B3_uc001rek.3_Silent_p.F535F|SLCO1B3_uc001rel.3_Silent_p.F535F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	535					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGAAATTTTTCATCTATGTTG	0.368000														28			4		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528811	20528811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20528811G>A	uc001vwn.1	+	0	608	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATTGCTGACAGCGGGCTGCTC	0.433000														18			3		0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054169	46054169	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:46054169T>C	uc010wlc.2	+	8	1074	c.950T>C	c.(949-951)tTc>tCc	p.F317S	CDK5RAP3_uc002imq.1_Missense_Mutation_p.F72S|CDK5RAP3_uc002imr.3_Missense_Mutation_p.F297S|CDK5RAP3_uc002ims.3_Missense_Mutation_p.F210S	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	297					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGGGGCATCTTCCCGGAATCA	0.517000														37			5		0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166254685	166254685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:166254685C>T	uc003ire.3	+	1	293	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	MSMO1_uc010irb.3_Missense_Mutation_p.L55F|MSMO1_uc003irf.3_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	55					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATGGGGATCCCTTATAGTTCA	0.299000														26			3		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	351820	351820	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:351820G>A	uc001qic.2	-	3	528	c.438C>T	c.(436-438)atC>atT	p.I146I	SLC6A13_uc009zdj.2_Silent_p.I146I|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_Silent_p.I27I	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	146					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGGGCAGGTCGATGGTGAAGC	0.552000														30			4		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31017746	31017746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31017746C>T	uc021wbw.1	+	7	1040	c.608C>T	c.(607-609)tCc>tTc	p.S203F	ASXL1_uc002wxs.3_Missense_Mutation_p.S202F|ASXL1_uc010geb.3_Intron	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	203	Poly-Ser.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGCAGCCCGTCCAGCAGCAGC	0.667000			"""F, N, Mis"""		"""MDS, CMML"""									43			15		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839649	15839649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15839649C>T	uc002nbm.2	+	0	816	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCCAAAGGTCCCCACTCTCA	0.547000														63			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923529	13923529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13923529C>T	uc003jfd.2	-	3	340	c.298G>A	c.(298-300)Ggg>Agg	p.G100R	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	100	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGATTTACCCCTCCTAGAGAG	0.408000									Kartagener syndrome					15			8		0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724660	112724660	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:112724660G>A	uc010ljv.2	-	1	634	c.117C>T	c.(115-117)ctC>ctT	p.L39L	GPR85_uc003vgp.1_Silent_p.L39L|GPR85_uc003vgq.2_Silent_p.L39L|GPR85_uc010ljw.1_Silent_p.L39L|GPR85_uc022akd.1_Silent_p.L39L	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGGAGATCAGGAGGTTGCCCA	0.433000														56			4		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898645	36898645	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36898645C>T	uc003cgj.3	-	11	2684	c.2436G>A	c.(2434-2436)aaG>aaA	p.K812K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	812					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGATTTTCTTCTTGATGACCT	0.512000														109			12		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38924499	38924499	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38924499C>T	uc002oit.3	+	0	160	c.30C>T	c.(28-30)gtC>gtT	p.V10V	RYR1_uc002oiu.3_Silent_p.V10V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	10					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)	AAGACGAGGTCCAGTTCCTGC	0.647000														146			6		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28527820	28527820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28527820G>A	uc003szq.3	+	1	421	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CREB5_uc003szo.3_Intron|CREB5_uc003szr.3_Missense_Mutation_p.E4K	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	11					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GATGAATTTGGAGCAGGAGAG	0.512000														354			19		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220986660	220986660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:220986660G>A	uc001hmt.3	+	6	1213	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	MARC1_uc001hms.3_Missense_Mutation_p.R305Q	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	305	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCTTCAGAACGAAAGTTATAT	0.493000														171			8		0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160000969	160000969	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160000969G>A	uc001fuv.1	-	0	815	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class M (PIGM), mRNA.	187					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTATGGGAAGGATGTAAGTCA	0.468000														105			13		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922057	24922057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922057G>A	uc001ywo.3	+	0	1517	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	348	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.R348L(2)		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)		CTGTGGGATCGAGGTGAGCTT	0.567000														32			7		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153425	133153425	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133153425G>A	uc003ytj.3	-	9	1641	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	KCNQ3_uc003yti.3_Silent_p.F352F|KCNQ3_uc010mdt.3_Silent_p.F472F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	472					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGCCGTGCGGAAACGCTCTT	0.453000														105			12		0	0	1	0	0
PTMA	5757	broad.mit.edu	37	2	232577545	232577546	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:232577545_232577546CC>TT	uc002vsc.4	+	4	502_503	c.320_321CC>TT	c.(319-321)acc>aTT	p.T107I	PTMA_uc002vsb.4_Missense_Mutation_p.T106I|PTMA_uc010zmf.2_Non-coding_Transcript|PTMA_uc021vyc.1_5'Flank	NM_001099285	NP_001092755	P06454	PTMA_HUMAN	Homo sapiens prothymosin, alpha (PTMA), transcript variant 1, mRNA.	107					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AAGCAGAAGACCGACGAGGATG	0.495000														6			3		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626408	49626408	+	Silent	SNP	G	A	A	rs147442458		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:49626408G>A	uc002xwa.4	-	1	763	c.468C>T	c.(466-468)atC>atT	p.I156I	KCNG1_uc002xwb.3_Silent_p.I156I	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	156						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I156I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTCCTCCGCGATGCCCCAGT	0.662000														81			5		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84189347	84189347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84189347C>T	uc002fhl.4	+	4	915	c.734C>T	c.(733-735)cCc>cTc	p.P245L	DNAAF1_uc010chi.1_Non-coding_Transcript	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	245					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.M244K(1)|p.P245T(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAAAGCATGCCCGATTTGGTA	0.413000														46			10		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943796	27943796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27943796C>T	uc001boj.3	-	3	586	c.440G>A	c.(439-441)gGa>gAa	p.G147E	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.G147E|FGR_uc001bol.3_Missense_Mutation_p.G147E|FGR_uc001bom.3_Missense_Mutation_p.G147E	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	147	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAATCTTTCCAAAGTACCA	0.557000														60			4		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430675	43430675	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43430675C>T	uc002ovl.4	-	4	1002	c.900G>A	c.(898-900)acG>acA	p.T300T	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.T179T	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	301	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				TTTCATTTCTCGTGACACTGG	0.502000														170			23		0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868870	56868870	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56868870C>T	uc001slj.3	-	9	1233	c.954G>A	c.(952-954)ggG>ggA	p.G318G	GLS2_uc021qzb.1_Silent_p.G281G|GLS2_uc021qzc.1_Intron|GLS2_uc021qzd.1_Silent_p.G53G|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Silent_p.G53G|GLS2_uc009zot.3_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	318					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AATTCCGATCCCCTGTTTCCT	0.478000														158			10		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145005749	145005749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145005749G>A	uc003zaf.1	-	18	2838	c.2668C>T	c.(2668-2670)Cgc>Tgc	p.R890C	PLEC_uc003zab.1_Missense_Mutation_p.R753C|PLEC_uc003zac.1_Missense_Mutation_p.R757C|PLEC_uc003zad.2_Missense_Mutation_p.R753C|PLEC_uc003zae.1_Missense_Mutation_p.R721C|PLEC_uc003zag.1_Missense_Mutation_p.R731C|PLEC_uc003zah.2_Missense_Mutation_p.R739C|PLEC_uc003zaj.2_Missense_Mutation_p.R780C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	890	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGCGGAGCGATCACAACTG	0.662000														12			4		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146142	55146142	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55146142C>T	uc002qgj.3	+	10	1751	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	LILRB1_uc010erp.1_Silent_p.L86L|LILRB1_uc002qgl.3_Silent_p.L471L|LILRB1_uc002qgk.3_Silent_p.L472L|LILRB1_uc002qgm.3_Silent_p.L472L|LILRB1_uc010erq.3_Silent_p.L455L|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	471					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCGTCAtcctactgctcct	0.582000										HNSCC(37;0.09)				31			5		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445812	98445812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98445812C>T	uc003upo.3	-	7	1364	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E	TMEM130_uc011kiq.2_Missense_Mutation_p.G361E|TMEM130_uc011kir.2_Missense_Mutation_p.G380E|TMEM130_uc003upn.3_Missense_Mutation_p.G278E	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	392						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCACCTGACCCCAGAGGGTGG	0.562000														34			5		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69040512	69040512	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69040512C>T	uc010fdg.3	+	5	1187	c.768C>T	c.(766-768)ttC>ttT	p.F256F	ARHGAP25_uc010yqk.2_Silent_p.F230F|ARHGAP25_uc010yql.2_Silent_p.F216F|ARHGAP25_uc002sev.3_Silent_p.F249F|ARHGAP25_uc002sew.3_Silent_p.F248F|ARHGAP25_uc002sex.3_Silent_p.F249F|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	255	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T256T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACGAAGGGTTCCTGCTCTGTG	0.522000														50			7		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163410	163410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:163410C>T	uc003jak.2	+	10	2205	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	719					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGGAAACATCCCCAGAAGAA	0.607000														69			5		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489500	76489500	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76489500C>T	uc011cbo.2	+	2	323	c.288C>T	c.(286-288)tcC>tcT	p.S96S	C4orf26_uc011cbn.2_Intron|C4orf26_uc003hip.2_Missense_Mutation_p.H82Y	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region		p.N96S(1)		kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GCCCAGAATCCATTTTAGGTT	0.512000														97			8		0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141441975	141441975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141441975C>T	uc003vwo.1	+	2	109	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	SSBP1_uc011kri.1_Missense_Mutation_p.R11C|SSBP1_uc010lnp.1_Missense_Mutation_p.R11C	NM_003143	NP_003134	Q04837	SSBP_HUMAN	Homo sapiens single-stranded DNA binding protein 1 (SSBP1), nuclear gene encoding mitochondrial protein, mRNA.	11					DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TTAGGTACTTCGTCAGTTTGT	0.318000														30			6		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608958	4608958	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4608958C>T	uc010qyh.2	+	0	938	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CACCCAAGTCCTGCTAGCTGA	0.517000														45			6		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879342	149879342	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149879342G>A	uc001etg.3	-	9	2079	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.L530L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	530					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.L530P(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTTCAAACAGGGAATCCTCA	0.498000														45			5		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53824999	53824999	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53824999G>A	uc001scx.2	+	10	1544	c.1464G>A	c.(1462-1464)tgG>tgA	p.W488*	AMHR2_uc009zmy.2_3'UTR|AMHR2_uc021qyg.1_Nonsense_Mutation_p.W393*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	488	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.W488L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AAGACTGTTGGGATGCAGACC	0.597000														90			5		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147721	100147722	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:100147721_100147722GG>AA	uc003knk.3	-	4	1237_1238	c.909_910CC>TT	c.(907-912)ttccct>ttTTct	p.P304S		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	304					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		AAATCCTTAGGGAAGGGCCAGA	0.381000														27			4		0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1377640	1377640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1377640G>A	uc003gde.4	+	12	2395	c.1948G>A	c.(1948-1950)Ggg>Agg	p.G650R	UVSSA_uc010ibv.3_Missense_Mutation_p.G201R	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	650																	GAAAGGCAGGGGGAAGAAGAG	0.572000														54			6		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156882656	156882656	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156882656G>A	uc001fqj.1	+	17	2420	c.2304G>A	c.(2302-2304)gtG>gtA	p.V768V	PEAR1_uc001fqk.1_Silent_p.V393V	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	768						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTCCCTTGTGGTAGCCCTGG	0.587000														79			19		0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073635	46073635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46073635C>T	uc001coi.2	+	5	1211	c.1052C>T	c.(1051-1053)gCt>gTt	p.A351V	NASP_uc010olq.2_Missense_Mutation_p.A314V|NASP_uc021omz.1_Missense_Mutation_p.A353V|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Missense_Mutation_p.A287V|NASP_uc001cok.2_Missense_Mutation_p.A234V	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	351	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ACAACAGAGGCTGCAGAGGCC	0.532000														95			14		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316208	72316208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:72316208G>A	uc010iic.3	+	9	1273	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	SLC4A4_uc003hfy.3_Missense_Mutation_p.D386N|SLC4A4_uc010iib.3_Missense_Mutation_p.D386N|SLC4A4_uc003hfz.3_Missense_Mutation_p.D386N|SLC4A4_uc003hgc.4_Missense_Mutation_p.D342N|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.D264N|SLC4A4_uc003hgb.3_Missense_Mutation_p.D342N	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	386						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.H386L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGGGGAATGGGATCCAGCAAT	0.433000														11			3		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139938	50139938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50139938G>A	uc002xwd.3	-	1	1062	c.842C>T	c.(841-843)tCt>tTt	p.S281F	NFATC2_uc002xwc.3_Missense_Mutation_p.S281F|NFATC2_uc010zyv.2_Missense_Mutation_p.S62F|NFATC2_uc010zyw.2_Missense_Mutation_p.S62F|NFATC2_uc002xwe.3_Missense_Mutation_p.S261F|NFATC2_uc010zyx.2_Missense_Mutation_p.S261F|NFATC2_uc010zyy.2_Missense_Mutation_p.S62F|NFATC2_uc010zyz.2_Missense_Mutation_p.S62F	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	281	3 X approximate SP repeats.				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)					TGCCACGTGAGATGAGGGCTG	0.716000														22			6		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30668355	30668355	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30668355G>A	uc003nrg.4	-	14	6597	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L	MDC1_uc003nrf.4_Silent_p.L684L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	2053	BRCT 2.|Required for nuclear localization (NLS2).				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						CCAACCCGTAGTGGAATGGAG	0.542000								Other conserved DNA damage response genes						86			5		0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56487266	56487266	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56487266A>T	uc002ejb.3	+	1	347	c.246A>T	c.(244-246)gaA>gaT	p.E82D	OGFOD1_uc002ejc.3_5'UTR|NUDT21_uc002eja.3_5'Flank	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	82							L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TTCAGAAGGAACTGATGAACT	0.408000														55			4		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347351	71347351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71347351C>T	uc011cat.2	+	3	1178	c.890C>T	c.(889-891)tCc>tTc	p.S297F	MUC7_uc011cau.2_Missense_Mutation_p.S297F|MUC7_uc003hfj.3_Missense_Mutation_p.S297F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	297	Thr-rich.					extracellular region	protein binding	p.S297Y(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCGTCTTCCCCAGCTCCA	0.557000														84			9		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234431968	234431968	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234431968G>A	uc010zmr.2	-	14	2082	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	USP40_uc010zmt.1_Silent_p.I338I	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	682					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A693T(1)		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)		CACCTGCTGGGATTGCTAAGG	0.517000														94			20		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922545	43922545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43922545C>T	uc002owk.3	+	8	1361	c.800C>T	c.(799-801)tCc>tTc	p.S267F	TEX101_uc010xwo.2_Missense_Mutation_p.S249F	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	249						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTCACTTTTCCTAAGAAGGC	0.483000														59			15		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829477	72829477	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72829477G>A	uc002fck.3	-	8	7777	c.7104C>T	c.(7102-7104)tcC>tcT	p.S2368S	ZFHX3_uc002fcl.3_Silent_p.S1454S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2368					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCATCCATGGAATCCTCAT	0.527000														111			13		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702255	88702255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88702255C>T	uc001kea.3	-	5	2413	c.2286G>A	c.(2284-2286)atG>atA	p.M762I	MMRN2_uc010qmn.2_Missense_Mutation_p.M405I|MMRN2_uc009xtb.2_Missense_Mutation_p.M719I	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	762						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGTTGGCTTCCATGAGCCCTT	0.602000														105			9		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773295	208773295	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:208773295G>A	uc002vcl.2	-	5	2383	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PLEKHM3_uc002vcm.2_Missense_Mutation_p.S646F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	631					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCTCTGGGGAAAATTCTGA	0.438000														52			11		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112171746	112171746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:112171746C>T	uc009zvx.3	+	11	1707	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ACAD10_uc001tsp.3_Missense_Mutation_p.H472Y|ACAD10_uc001tsq.3_Missense_Mutation_p.H472Y|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	472							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGGTGTTTCATCCAGAAGA	0.537000														76			9		0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519625	73519625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73519625G>A	uc010yrj.2	-	1	805	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S	EGR4_uc010yrk.1_Missense_Mutation_p.P243S	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	140						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTCCGGCGGACCCGGCAGC	0.682000														18			9		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564525	46564525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46564525G>A	uc001ncv.2	-	7	1086	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.P348S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P258S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P348S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P258S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P348S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	348					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGATGGAAGGGCTCGGTCTGT	0.612000														89			21		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22024875	22024875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22024875C>T	uc010gtj.1	+	2	219	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	PPIL2_uc002zvh.4_Missense_Mutation_p.R35C|PPIL2_uc002zvi.4_Missense_Mutation_p.R35C|PPIL2_uc002zvg.4_Missense_Mutation_p.R35C|PPIL2_uc011aij.2_Missense_Mutation_p.R35C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.R35H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368000														114			6		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72404816	72404816	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72404816G>A	uc001osu.3	-	27	3918	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	ARAP1_uc001osv.3_Silent_p.P1243P|ARAP1_uc001osr.3_Silent_p.P1003P|ARAP1_uc001oss.3_Silent_p.P998P|ARAP1_uc009yth.3_Silent_p.P937P|ARAP1_uc010rre.2_Silent_p.P998P	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1243	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGTGCAGGATGGGCAGCACCT	0.642000														49			9		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541765	187541765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187541765G>A	uc003izf.3	-	9	6163	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1992	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCCTCGGTGGAATTCTCTTT	0.408000										HNSCC(5;0.00058)				196			30		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515251	56515251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56515251C>T	uc002qmj.3	+	1	232	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	NLRP5_uc002qmi.3_Nonsense_Mutation_p.Q78*	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	78	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAAGAATTTCAGACATTCAA	0.438000														51			11		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225977	21225977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21225977C>T	uc002red.3	-	28	12445	c.12317G>A	c.(12316-12318)aGa>aAa	p.R4106K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4106					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.R4105fs*16(2)		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)	CTGCAGATTTCTTCTCAGCTT	0.498000														213			91		0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89978948	89978948	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:89978948G>A	uc003pnb.2	-	3	377	c.369C>T	c.(367-369)ttC>ttT	p.F123F	GABRR2_uc011dzx.1_5'UTR	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	123					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GGGTCATAGTGAAGTCCTGTG	0.517000														73			7		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518274	108518274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:108518274G>A	uc001vql.3	-	0	1187	c.671C>T	c.(670-672)tCg>tTg	p.S224L		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	224						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATTACAAAACGAAAGGTAAAA	0.577000														91			12		0	0	1	0	0
DEFB132	400830	broad.mit.edu	37	20	239757	239757	+	Missense_Mutation	SNP	G	A	A	rs145729689	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:239757G>A	uc002wdb.3	+	1	141	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_207469	NP_997352	Q7Z7B7	DB132_HUMAN	Homo sapiens defensin, beta 132 (DEFB132), mRNA.	33					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						AACACCCCAGGATACTGCAGG	0.522000														34			11		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8401339	8401339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:8401339G>A	uc010idk.3	-	7	962	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	ACOX3_uc003glc.4_Missense_Mutation_p.L273F|ACOX3_uc003gld.4_Missense_Mutation_p.L273F	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	273					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.L273F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CGGTTCAGAAGGCTCTGGCGA	0.602000														49			4		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228484	39228484	+	Missense_Mutation	SNP	C	T	T	rs145488377	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39228484C>T	uc003cjk.2	-	1	2682	c.2453G>A	c.(2452-2454)cGa>cAa	p.R818Q	XIRP1_uc003cji.3_Missense_Mutation_p.R818Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R818Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	818							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCCTCCTTTCGTATATAAGG	0.617000														70			14		0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44238470	44238470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:44238470C>T	uc001rod.3	+	1	82	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	TMEM117_uc001roe.3_5'UTR|TMEM117_uc009zkc.3_Missense_Mutation_p.R6C	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	6						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TAAAGACTTTCGTTACTATTT	0.403000														66			12		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677804	149677804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149677804G>A	uc003lrv.2	-	1	1272	c.683C>T	c.(682-684)cCc>cTc	p.P228L		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	228						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	p.P228P(1)|p.R227H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGAAGAGGGGACGCTGAGG	0.637000														26			7		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46808539	46808539	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46808539G>A	uc002peh.3	+	2	286	c.255G>A	c.(253-255)ctG>ctA	p.L85L	HIF3A_uc002pef.2_Silent_p.L85L|HIF3A_uc002peg.4_Silent_p.L85L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.L29L|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Intron|HIF3A_uc002pel.3_Silent_p.L83L|HIF3A_uc010xxz.2_Intron	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	85	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GAGAACCACTGGATGCCTGCT	0.607000														115			8		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333147	42333148	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42333147_42333148CC>TT	uc002igf.4	-	13	1842_1843	c.1693_1694GG>AA	c.(1693-1695)ggc>AAc	p.G565N	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	565	Involved in anion transport.|Membrane (anion exchange).		G -> A (in WU antigen).		bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCAGGGGGCCCTGAGGTTTG	0.525000														145			15		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233345515	233345515	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233345515C>T	uc002vsv.2	-	15	2269	c.2064G>A	c.(2062-2064)caG>caA	p.Q688Q	ECEL1_uc010fya.1_Silent_p.Q686Q|ECEL1_uc010fyb.1_Silent_p.Q395Q	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	688					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCACCCACTTCTGATAGGCCT	0.622000														16			5		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115986989	115986989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115986989G>A	uc001lbg.1	+	22	3487	c.3334G>A	c.(3334-3336)Gct>Act	p.A1112T	TDRD1_uc001lbf.3_Missense_Mutation_p.A989T|TDRD1_uc001lbh.1_Missense_Mutation_p.A1099T|TDRD1_uc001lbi.1_Missense_Mutation_p.A1103T|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.A821T	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1112					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCGATGTAGCTGATAAGCT	0.363000														46			4		0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011334	40011334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40011334G>A	uc002hyf.1	-	1	791	c.785C>T	c.(784-786)tCt>tTt	p.S262F		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	262	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AACCTCTTCAGAATCAACTGT	0.368000														43			8		0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	619195	619195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:619195C>T	uc003jbf.3	+	1	245	c.173C>T	c.(172-174)tCt>tTt	p.S58F	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	58					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGTCTGAAATCTTTGGATCTC	0.408000														90			7		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689690	109689690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:109689690C>T	uc004bcz.3	+	2	3786	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S1014F|ZNF462_uc004bda.3_Missense_Mutation_p.S1014F	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCCAAGGCTCCCCCCGGCCA	0.542000														85			17		0	0	1	0	0
C19orf10	56005	broad.mit.edu	37	19	4658084	4658084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4658084G>A	uc002may.3	-	5	524	c.455C>T	c.(454-456)cCc>cTc	p.P152L		NM_019107	NP_061980	Q969H8	CS010_HUMAN	Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA.	152						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		GAATGCCCCGGGCCTGTGAGC	0.577000														19			5		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005341	74005341	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74005341C>T	uc010wss.1	-	21	4239	c.4011G>A	c.(4009-4011)aaG>aaA	p.K1337K	EVPL_uc002jqi.2_Silent_p.K1315K|EVPL_uc010wst.1_Silent_p.K785K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1315	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCACCACCTCCTTGCTCACCG	0.706000														222			17		0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636230	44636230	+	Missense_Mutation	SNP	G	A	A	rs143217347		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44636230G>A	uc003cnl.1	+	2	878	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	ZNF660_uc021wwp.1_Missense_Mutation_p.R182Q	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAACATCAGCGAATGCACAGA	0.408000														87			11		0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122338	31122338	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31122338G>T	uc003nsp.4	-	3	925	c.736C>A	c.(736-738)Cgg>Agg	p.R246R	CCHCR1_uc011dne.2_Silent_p.R157R|CCHCR1_uc003nsq.4_Silent_p.R210R|CCHCR1_uc003nsr.4_Silent_p.R157R|CCHCR1_uc010jsk.1_Silent_p.R157R	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	157					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.R157R(1)|p.R246R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AAGTTCTTCCGGACAACCTCA	0.612000														363			26		1.77063e-15	1.79702e-15	1	1	0
ZBTB24	9841	broad.mit.edu	37	6	109797389	109797389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:109797389C>T	uc003ptl.1	-	3	1361	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.R342Q|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGTATGAACTCGGTAATGGCT	0.368000														37			6		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418836	23418837	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23418836_23418837GG>AC	uc001bgk.2	-	3	2468_2469	c.1918_1919CC>GT	c.(1918-1920)ccg>GTg	p.P640V	LUZP1_uc010odv.1_Missense_Mutation_p.P640V|LUZP1_uc001bgl.3_Missense_Mutation_p.P640V|LUZP1_uc001bgm.1_Missense_Mutation_p.P640V	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	640						nucleus		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GGCTTCATGCGGACTGCTGTCT	0.460000														145			22		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642775	57642775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:57642775G>A	uc002qny.3	+	3	3088	c.2732G>A	c.(2731-2733)gGg>gAg	p.G911E	USP29_uc021vci.1_Missense_Mutation_p.G911E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	911					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCCCTCAGGGGGAATACGAA	0.468000														63			7		0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151681498	151681498	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151681498G>A	uc001eys.2	-	4	1256	c.462C>T	c.(460-462)acC>acT	p.T154T	CELF3_uc010pdh.2_5'Flank|CELF3_uc021oyt.1_Silent_p.T107T|CELF3_uc009wmy.3_Silent_p.T154T|CELF3_uc001eyr.3_Silent_p.T153T|CELF3_uc009wmx.2_Silent_p.T154T|CELF3_uc001eyt.2_Silent_p.T77T|CELF3_uc010pdi.1_Silent_p.T154T|RIIAD1_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	154	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGCTGTGAAGGGTGTTGATGG	0.677000														62			6		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920818	105920818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105920818C>T	uc001kxw.3	-	26	3633	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	WDR96_uc009xxq.3_Missense_Mutation_p.E481K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1173										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTCTTTCTTCATTTAACTCC	0.318000														14			4		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891438	6891438	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:6891438C>T	uc001meu.1	+	0	453	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CATGGCTCTTCAGTTTTCCAT	0.527000														95			7		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414138	179414138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179414138G>A	uc001gmo.3	+	15	1984	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	AXDND1_uc001gmn.2_Missense_Mutation_p.D321N|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.D491N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	533										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTTTACTGGGGATGTTCTACT	0.353000														42			6		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415789	86415789	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:86415789C>T	uc003uid.3	+	2	1780	c.681C>T	c.(679-681)atC>atT	p.I227I	GRM3_uc010lef.3_Silent_p.I225I|GRM3_uc010leg.3_Silent_p.I99I|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	227					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGACAGGGATCGAGGCCTTCG	0.597000														39			12		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101804381	101804382	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:101804381_101804382GG>AA	uc004azb.1	+	23	2772_2773	c.2566_2567GG>AA	c.(2566-2568)gga>AAa	p.G856K		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	856	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGACTAAAAGGAGAACAGGTA	0.416000														57			4		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034466	95034466	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95034466G>A	uc010avd.3	+	4	1309	c.1035_splice	c.e4-1	p.R345_splice	SERPINA4_uc001ydk.3_Splice_Site_p.R308_splice|SERPINA4_uc001ydl.3_Splice_Site_p.R308_splice	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	308					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCCCTTTCAGGAATTTTTACA	0.478000														109			17		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042398	60042398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60042398G>A	uc002izo.3	-	19	4890	c.4813C>T	c.(4813-4815)Ccc>Tcc	p.P1605S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1605					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCTGAGTGGGAAGTGAAGAT	0.403000														21			5		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26781398	26781398	+	Silent	SNP	C	T	T	rs6734111	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26781398C>T	uc002rhk.3	-	0	169	c.42G>A	c.(40-42)cgG>cgA	p.R14R		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	14					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)					CGCCCCTGCCCCGCAGCTCCG	0.652000														68			4		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241992590	241992590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241992590G>A	uc002wah.1	+	15	2104	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	702	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGGCCCCCCGGAGGAGGTGAA	0.716000														25			5		0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144006	3144006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3144006C>T	uc002fvf.3	+	0	37	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		CTCACAGTTCCTTCTCCTGGG	0.458000														33			4		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723664	142723664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142723664C>T	uc003wcc.1	-	0	556	c.556G>A	c.(556-558)Gat>Aat	p.D186N		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	186					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)					AGAGTGTTATCGCAGGACAGT	0.398000														49			14		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361987	9361987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9361987G>A	uc002mlb.1	+	0	268	c.268G>A	c.(268-270)Ggt>Agt	p.G90S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGCTGACATCGGTTTCACCTC	0.532000														26			9		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167980	161167980	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161167980C>T	uc001fyt.4	-	0	866	c.438G>A	c.(436-438)ggG>ggA	p.G146G	ADAMTS4_uc001fyu.2_Silent_p.G146G|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	146					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACAGGGCTCCCCCATCCCAGT	0.642000														63			15		0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166261450	166261450	+	Silent	SNP	C	T	T	rs73862307	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:166261450C>T	uc003ire.3	+	4	739	c.609C>T	c.(607-609)atC>atT	p.I203I	MSMO1_uc010irb.3_Silent_p.I203I|MSMO1_uc003irf.3_Silent_p.I72I	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	203					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	TCATTGGAATCGTGCTTTTGT	0.368000														24			9		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807923	50807923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:50807923C>T	uc003pag.3	+	5	1161	c.995C>T	c.(994-996)cCc>cTc	p.P332L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	332					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P332H(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACGGAGTTTCCCGCCAAAGCC	0.483000														142			6		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107436862	107436862	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107436862G>A	uc004enw.4	-	16	1174	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	COL4A6_uc004env.4_Silent_p.I356I|COL4A6_uc011msn.2_Silent_p.I356I|COL4A6_uc010npk.3_Silent_p.I356I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	357	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTGCACCTGAGATCACAGCAC	0.368000									Alport syndrome with Diffuse Leiomyomatosis					34			4		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015147	45015147	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45015147G>A	uc010ejn.1	-	11	1694	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	CEACAM20_uc010ejo.1_Silent_p.L548L|CEACAM20_uc010ejp.1_Silent_p.L467L|CEACAM20_uc010ejq.1_Silent_p.L455L	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	560						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGGGCATCAGAGGTTTGGGT	0.507000														308			33		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488324	51488324	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:51488324C>T	uc004dpl.3	+	0	1844	c.1602C>T	c.(1600-1602)atC>atT	p.I534I		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	534					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACAAATCCATCATCTGCCCAG	0.403000														36			10		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5445203	5445203	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5445203C>T	uc002gci.3	-	5	3228	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	NLRP1_uc002gcg.1_Silent_p.Q891Q|NLRP1_uc002gch.4_Silent_p.Q891Q|NLRP1_uc002gck.3_Silent_p.Q891Q|NLRP1_uc002gcj.3_Silent_p.Q891Q|NLRP1_uc002gcl.3_Silent_p.Q891Q|NLRP1_uc010clh.3_Silent_p.Q891Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	891					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.R890K(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGCAGCTCGGCTGTCTCAGTC	0.587000														38			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457308	110457308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110457308G>A	uc003yne.3	+	37	5314	c.5210G>A	c.(5209-5211)gGa>gAa	p.G1737E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1737	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGTGCCAGGGAAACTGCACC	0.433000										HNSCC(38;0.096)				83			7		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586417	169586417	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169586417G>A	uc001ggi.4	-	2	395	c.330C>T	c.(328-330)ctC>ctT	p.L110L	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Silent_p.L110L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	110	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCTCGTTGGTGAGAGCCTTTT	0.478000														70			21		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698082	34698082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:34698082G>A	uc003teh.1	+	0	186	c.58G>A	c.(58-60)Gat>Aat	p.D20N	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.D20N|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.D20N|NPSR1_uc003tei.1_Missense_Mutation_p.D20N|NPSR1_uc010kww.1_Missense_Mutation_p.D20N|NPSR1_uc011kar.1_Missense_Mutation_p.D20N	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	20						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GCAGACGCTGGATTCTTCCCC	0.532000														50			7		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044494	47044494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47044494C>T	uc003cqp.3	+	33	5686	c.5507C>T	c.(5506-5508)tCa>tTa	p.S1836L	NBEAL2_uc010hjm.2_Missense_Mutation_p.S1213L|NBEAL2_uc010hjn.2_Missense_Mutation_p.S232L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1836							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGACATATTCACGCATGCGT	0.597000														22			4		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18975448	18975448	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:18975448G>A	uc003sui.3	+	21	2861	c.2820G>A	c.(2818-2820)acG>acA	p.T940T	HDAC9_uc003sue.3_Silent_p.T937T|HDAC9_uc003suh.3_Silent_p.T937T|HDAC9_uc003suj.3_Silent_p.T896T|HDAC9_uc003suk.3_Silent_p.T185T	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	937	Histone deacetylase.				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	p.T940M(1)		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)	GTCATTTGACGAAGCAATTGA	0.388000														141			6		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445249	92445249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:92445249G>A	uc001dol.4	+	8	1640	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	BRDT_uc010osz.2_Missense_Mutation_p.E412K|BRDT_uc001dok.4_Missense_Mutation_p.E408K|BRDT_uc009wdf.3_Missense_Mutation_p.E335K|BRDT_uc010otb.2_Missense_Mutation_p.E362K|BRDT_uc010ota.2_Missense_Mutation_p.E362K|BRDT_uc001dom.4_Missense_Mutation_p.E408K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGCCTCCTCTGAAGGGAACTC	0.393000														79			7		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829336	15829336	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15829336C>T	uc002ddx.3	-	26	3521	c.3414G>A	c.(3412-3414)cgG>cgA	p.R1138R	MYH11_uc002ddv.3_Silent_p.R1138R|MYH11_uc002ddw.3_Silent_p.R1131R|MYH11_uc002ddy.3_Silent_p.R1131R|MYH11_uc010bvg.3_Silent_p.R963R	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1131					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTGGCGGCCCGCTCTGAGT	0.587000			T	CBFB	AML									126			15		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080363	54080363	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54080363G>A	uc002qbx.1	+	6	1983	c.549G>A	c.(547-549)ggG>ggA	p.G183G	ZNF331_uc002qby.1_Silent_p.G183G|ZNF331_uc002qbz.1_Silent_p.G183G|ZNF331_uc010eqr.1_Silent_p.G183G|ZNF331_uc002qca.1_Silent_p.G183G|ZNF331_uc021uzg.1_Silent_p.G183G|ZNF331_uc021uzh.1_Silent_p.G183G|ZNF331_uc002qcb.1_Silent_p.G183G|ZNF331_uc002qcc.1_Silent_p.G183G|ZNF331_uc002qcd.1_Silent_p.G183G	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G183W(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTCATACTGGGGAGAAGCCCT	0.413000			T	?	follicular thyroid adenoma									95			9		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066614	175066614	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175066614C>T	uc001gkl.1	+	7	1763	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	550	Fibronectin type-III 4.				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)		CCACCATCTCCTGGGACCCGG	0.532000														41			5		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121200	38121200	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:38121200G>A	uc001izd.1	-	5	1582	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.F361F	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	361					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						ACTTCTTGCTGAAATTACTCC	0.413000														12			9		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028503	102028503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102028503G>A	uc021sdx.1	+	0	816	c.670G>A	c.(670-672)Gac>Aac	p.D224N	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	198					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GAGCCTGGAGGACCGGGTCAG	0.647000														104			14		0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50241377	50241377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:50241377C>T	uc001wwx.3	+	2	732	c.332C>T	c.(331-333)tCa>tTa	p.S111L	NEMF_uc010anj.1_Intron	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	Homo sapiens kelch domain containing 2 (KLHDC2), mRNA.	111						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GGACACCATTCAAGAGGCAAT	0.393000														108			20		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453481	32453481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32453481G>A	uc003xiv.2	+	1	753	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	NRG1_uc022ats.1_Missense_Mutation_p.R58Q|NRG1_uc003xip.3_Missense_Mutation_p.R294Q|NRG1_uc003xir.3_Missense_Mutation_p.R79Q|NRG1_uc010lvl.3_Missense_Mutation_p.R79Q|NRG1_uc010lvm.3_Missense_Mutation_p.R79Q|NRG1_uc010lvn.3_Missense_Mutation_p.R79Q|NRG1_uc003xis.3_Missense_Mutation_p.R79Q|NRG1_uc011lbf.1_Missense_Mutation_p.R79Q|NRG1_uc010lvo.2_Missense_Mutation_p.R79Q|NRG1_uc003xiu.2_Missense_Mutation_p.R79Q|NRG1_uc003xiw.2_Missense_Mutation_p.R79Q|NRG1_uc003xit.2_Missense_Mutation_p.R79Q|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.R45Q|NRG1_uc010lvq.2_Missense_Mutation_p.R38Q	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	79	Ig-like C2-type.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAATTGAATCGAAAAAACAAA	0.373000														15			4		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125516744	125516744	+	Silent	SNP	G	A	A	rs76525337	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125516744G>A	uc001lhk.1	-	11	2227	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	634					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCATGAACACGATCAGAGATT	0.532000														52			6		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658900	3658900	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3658900G>A	uc002cvp.2	-	1	693	c.66C>T	c.(64-66)gcC>gcT	p.A22A	SLX4_uc002cvq.1_Silent_p.A22A	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	22	Interaction with C20orf94, ERCC4 and MSH2.				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						TCCCAGGACAGGCAGACAGAT	0.468000								Direct reversal of damage						47			5		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4525805	4525805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4525805G>A	uc002mas.3	-	5	613	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	187						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ATCCTCCACCGAACCCACTTC	0.647000														27			6		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580206	140580206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140580206G>A	uc003liy.3	+	0	859	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	287	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCTCAGAAGATATTCGCAA	0.368000														94			11		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79236828	79236828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79236828G>A	uc003hlb.2	+	15	2199	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	FRAS1_uc003hkw.3_Missense_Mutation_p.G587R|FRAS1_uc003hky.1_Missense_Mutation_p.G291R|FRAS1_uc003hkz.3_Missense_Mutation_p.G291R|FRAS1_uc003hla.1_Missense_Mutation_p.G98R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	587					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGCATGATGGGAAATGCAT	0.502000														42			4		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679555	6679555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:6679555G>A	uc022aqv.1	-	4	794	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	XKR5_uc003wqq.3_Missense_Mutation_p.H52Y	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	215						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ACCAGCCAGTGGGCACCTGCA	0.622000														11			3		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8139498	8139499	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8139498_8139499CC>TT	uc002gkq.4	-	5	1013_1014	c.954_955GG>AA	c.(952-957)ctggaa>ctAAaa	p.E319K	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	319					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGCTCCAGTTCCAGCTCCTGCA	0.564000														40			7		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7668894	7668894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:7668894G>A	uc003gkb.4	+	7	1115	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SORCS2_uc011bwi.2_Missense_Mutation_p.R200Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	372						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATCGTCGAAATGAATTT	0.493000														120			13		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757919	116757919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116757919G>A	uc011ebg.2	+	5	2444	c.2345G>A	c.(2344-2346)cGa>cAa	p.R782Q	DSE_uc003pws.3_Missense_Mutation_p.R763Q|DSE_uc003pwt.3_Missense_Mutation_p.R763Q|DSE_uc003pwu.3_Missense_Mutation_p.R430Q	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	763					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATACTGTCCCGAGTCCGGAAC	0.473000														25			7		0	0	1	0	0
THAP6	152815	broad.mit.edu	37	4	76452307	76452307	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76452307G>A	uc003him.3	+	4	649	c.552G>A	c.(550-552)agG>agA	p.R184R	THAP6_uc003hin.3_Silent_p.R142R|THAP6_uc011cbm.2_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.3_Silent_p.R184R	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	Homo sapiens THAP domain containing 6 (THAP6), mRNA.	184						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATCATTGAGGAAGACAATCA	0.398000														27			6		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843645	16843645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:16843645G>A	uc002gqs.1	-	3	639	c.626C>T	c.(625-627)tCc>tTc	p.S209F	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S163F	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	209					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCACCCTGGGAAGACTTGGC	0.642000									IgA Deficiency, Selective					91			6		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	203977874	203977874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203977874C>T	uc002uzt.3	+	15	2585	c.2252C>T	c.(2251-2253)tCc>tTc	p.S751F		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	751							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCATCAGCCTCCTGGGGAGGA	0.478000														542			32		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45877970	45877970	+	Missense_Mutation	SNP	G	A	A	rs143978950		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45877970G>A	uc001jce.3	+	1	289	c.190G>A	c.(190-192)Gag>Aag	p.E64K	ALOX5_uc009xmt.3_Missense_Mutation_p.E64K|ALOX5_uc010qfg.2_Missense_Mutation_p.E64K|ALOX5_uc021ppr.1_Missense_Mutation_p.E64K	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	64	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.G63A(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGAACTGGGCGAGATCCAGCT	0.557000														64			7		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225563	21225563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21225563G>A	uc002red.3	-	28	12859	c.12731C>T	c.(12730-12732)tCc>tTc	p.S4244F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4244					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGAAATAGGAAAACAGTAT	0.378000														158			68		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143392	160143392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160143392C>T	uc001fve.4	+	12	2355	c.1876C>T	c.(1876-1878)Cat>Tat	p.H626Y	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.H129Y	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	626					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACAGGAGATCATCCCATTAC	0.522000														93			9		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049186	62049186	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62049186G>A	uc002jds.1	-	3	584	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	169					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)	GGGACTCAAAGGTGTAGATCC	0.592000														28			7		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576674	138576674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:138576674C>T	uc003qhu.3	+	9	1043	c.872C>T	c.(871-873)tCg>tTg	p.S291L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	291					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGCCTGGAGTCGGACTCTGCG	0.582000														76			8		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658508	72658508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72658508G>A	uc003txs.1	-	12	1404	c.476C>T	c.(475-477)tCt>tTt	p.S159F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gattgcgatagaatatgccac	0.458000														40			5		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243729	1243729	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:1243729G>A	uc003jby.2	+	8	1314	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	397					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)			TCCACATGCCGGGGGCTCCTG	0.657000														78			7		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129782110	129782110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129782110G>A	uc001qfm.3	-	18	3096	c.2864C>T	c.(2863-2865)cCt>cTt	p.P955L	PRDM10_uc001qfj.3_Missense_Mutation_p.P869L|PRDM10_uc001qfk.3_Intron|PRDM10_uc001qfl.3_Missense_Mutation_p.P869L|PRDM10_uc010sbx.2_Missense_Mutation_p.P865L|PRDM10_uc001qfn.3_Missense_Mutation_p.P951L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	955	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGACTGGTGAGGGGAAGTGGC	0.512000														83			4		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79308779	79308779	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79308779C>G	uc003hlb.2	+	28	4339	c.3899C>G	c.(3898-3900)tCc>tGc	p.S1300C	FRAS1_uc003hkw.3_Missense_Mutation_p.S1300C	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1299					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACAGCACATCCGATGTTGCA	0.488000														28			7		0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77708953	77708953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77708953G>A	uc002jxa.3	+	2	531	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	171					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAATGAGACGGAGTGGAGAGC	0.592000														41			19		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816884	2816884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2816884C>T	uc002crk.3	+	10	6904	c.6355C>T	c.(6355-6357)Cgt>Tgt	p.R2119C	SRRM2_uc002crj.1_Missense_Mutation_p.R2023C|SRRM2_uc002crl.1_Missense_Mutation_p.R2119C|SRRM2_uc010bsu.1_Missense_Mutation_p.R2023C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2119	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						CTGCTTCAGTCGTCCTAGCAT	0.517000														156			11		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21609847	21609847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21609847C>T	uc003svc.3	+	6	1386	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	452	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCTGAGACCATGGGATTTC	0.328000									Kartagener syndrome					14			4		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965823	127965823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127965823G>A	uc003eki.3	+	1	499	c.461G>A	c.(460-462)gGa>gAa	p.G154E		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	154						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TTACCTGAAGGAAAGAGACAG	0.478000														145			13		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387202	10387202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10387202G>A	uc003wta.3	+	1	380	c.340G>A	c.(340-342)Gag>Aag	p.E114K	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.E114K|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	114	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATATTCCGAGGAGCTGTTGTA	0.592000														187			23		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970902	123970902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123970902C>T	uc001lfv.3	+	8	7322	c.6962C>T	c.(6961-6963)tCc>tTc	p.S2321F	TACC2_uc001lfw.3_Missense_Mutation_p.S467F|TACC2_uc009xzx.3_Missense_Mutation_p.S2276F|TACC2_uc010qtv.2_Missense_Mutation_p.S2325F|TACC2_uc001lfx.3_Missense_Mutation_p.S25F|TACC2_uc001lfy.3_Missense_Mutation_p.S25F|TACC2_uc001lfz.3_Missense_Mutation_p.S399F|TACC2_uc001lga.3_Missense_Mutation_p.S399F|TACC2_uc009xzy.3_Missense_Mutation_p.S399F|TACC2_uc001lgb.3_Missense_Mutation_p.S356F|TACC2_uc010qtw.1_Missense_Mutation_p.S416F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2321	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTCCCAGATCCCCTGCTGAA	0.468000														166			32		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42080489G>A	uc002yyq.1	-	1	704	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	84	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGGAAGGGGAAAATTTGGA	0.498000														58			19		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268064	55268064	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:55268064C>T	uc003tqk.3	+	23	3150	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	968	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCATCGAATTCTCCAAAATGG	0.478000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				97			6		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447914	19447914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19447914G>A	uc001bbi.3	-	67	9914	c.9910C>T	c.(9910-9912)Ctc>Ttc	p.L3304F	UBR4_uc001bbk.1_Missense_Mutation_p.L951F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3304					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTTGGAGGAGGAAGTACAGG	0.582000														38			7		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32818754	32818754	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32818754G>A	uc003ocg.3	-	3	1352	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	TAP1_uc011dqi.2_Silent_p.F138F	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	399	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TGGGCAGAAGGAAAAGCAGAG	0.547000														69			8		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247419691	247419691	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247419691C>T	uc010pyu.2	+	1	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	106					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CCTTAGACTTCTTTGGTTCAC	0.453000														84			5		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38729526	38729526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38729526G>A	uc021yzh.1	+	10	1673	c.1564G>A	c.(1564-1566)Gga>Aga	p.G522R	DNAH8_uc003ooe.2_Missense_Mutation_p.G305R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACTGATGGAGGATTAAACCA	0.289000														13			4		0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127990199	127990199	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127990199C>T	uc004bpi.3	+	6	706	c.537C>T	c.(535-537)acC>acT	p.T179T	RABEPK_uc004bpj.3_Silent_p.T128T|RABEPK_uc004bpk.3_Silent_p.T179T	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	179					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACACTCTGACCTGGTCACAGC	0.488000														33			8		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588011	247588011	+	Silent	SNP	G	A	A	rs143305855		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247588011G>A	uc001icr.3	+	4	1404	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	NLRP3_uc001ics.3_Silent_p.L422L|NLRP3_uc001icu.3_Silent_p.L422L|NLRP3_uc001icw.3_Silent_p.L422L|NLRP3_uc001icv.3_Silent_p.L422L|NLRP3_uc010pyw.2_Silent_p.L420L|NLRP3_uc001ict.1_Silent_p.L420L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	422	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L422L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACTGGACTGAAACAGCAGA	0.582000														50			7		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8615533	8615533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8615533C>T	uc002mkg.3	-	8	955	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	273	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCTGCAGGACCAGCTGCTGG	0.587000														76			5		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901481	31901481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31901481G>A	uc011doo.2	+	1	253	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	CFB_uc003nyc.2_Missense_Mutation_p.R11Q|CFB_uc011dop.2_Silent_p.S56S|CFB_uc003nye.4_Silent_p.S179S|CFB_uc003nyf.3_Silent_p.S179S|CFB_uc010jtk.3_Silent_p.S47S|CFB_uc011doq.2_Silent_p.S150S|CFB_uc011dor.2_Silent_p.S117S			P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 2, mRNA.	679					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCTGCTCCTCGAATCTTGTGC	0.652000														263			33		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918812	15918812	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15918812G>A	uc002nbq.2	-	0	125	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	12					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						CGACGAGGATGAATTGGGTCA	0.537000														85			9		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331704	107331704	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:107331704C>T	uc011lvo.2	+	0	256	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGCCAGCTTTCTGGCAGTAAA	0.468000														102			14		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276501	186276501	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186276501G>A	uc001gru.4	+	6	1701	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K509K|PRG4_uc009wyl.3_Silent_p.K457K|PRG4_uc009wym.3_Silent_p.K416K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	550	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTTCAC	0.642000														29			6		0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12143138	12143138	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:12143138C>T	uc001ild.4	+	9	1953	c.1854C>T	c.(1852-1854)atC>atT	p.I618I		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	618					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACACCTACATCCCCCTGAACC	0.463000														174			57		0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132004242	132004242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:132004242G>A	uc003qcu.4	+	12	1407	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.E354K|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	354	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GATGTTGATGGAAGGCCTGAA	0.358000														32			4		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614417	148614417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:148614417C>T	uc003ewm.3	+	10	1229	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	393					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCAGAATCCCGGATAAAGCC	0.433000														41			4		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4720326	4720326	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4720326C>T	uc002fzc.3	+	15	1803	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	PLD2_uc010vsj.2_Silent_p.F416F|PLD2_uc002fzd.3_Silent_p.F559F	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	559	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCCGGCACTTCATCCAGCGCT	0.632000														49			5		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823004	38823004	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38823004G>A	uc003avs.1	-	1	1231	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	KCNJ4_uc003avt.1_Silent_p.A378A|KCNJ4_uc021wpp.1_Silent_p.A378A	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	378					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTCATAAGGGCCAGCTCGT	0.706000														107			6		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74972790	74972790	+	Missense_Mutation	SNP	C	T	T	rs145811412	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74972790C>T	uc001xqa.3	-	27	4525	c.4138G>A	c.(4138-4140)Gat>Aat	p.D1380N		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1380	EGF-like 16; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCTGGGCATCGTACTCCTCC	0.622000														71			15		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520712	33520712	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:33520712C>T	uc002hjd.2	-	0	701	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	205						integral to membrane											CCAGAAGCCTCAGGGACAGCG	0.627000														110			28		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455200	76455200	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76455200G>A	uc010dhp.2	-	60	9869	c.9744C>T	c.(9742-9744)atC>atT	p.I3248I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGAAGCGGACGATGTTGATGC	0.642000														337			30		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051354	38051354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38051354C>T	uc003gtb.3	+	10	2103	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	TBC1D1_uc011byd.2_Missense_Mutation_p.A582V|TBC1D1_uc010ifd.3_Missense_Mutation_p.A329V|TBC1D1_uc011byf.1_Missense_Mutation_p.A453V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	582						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAAGAGCCAGCTCCGCTGTCG	0.622000														86			4		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164748	139164748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139164748G>A	uc003yuy.3	-	12	2141	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	FAM135B_uc003yux.3_Missense_Mutation_p.S558F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S219F|FAM135B_uc003yvb.3_Missense_Mutation_p.S219F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	657										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)			GTCCTTTAGGGAAGACCTAAT	0.493000										HNSCC(54;0.14)				59			9		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75276562	75276562	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:75276562G>A	uc002sng.2	-	4	1806	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S		NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	407					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTGTGGCCTAGGAGAGCACAT	0.562000														67			5		0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955609	107955609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:107955609C>T	uc003prx.3	+	5	2065	c.1561C>T	c.(1561-1563)Ccg>Tcg	p.P521S		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	521	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGTGCCGCCCCCGACCCTGCT	0.667000														9			4		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150712866	150712866	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150712866G>A	uc003lty.3	-	6	892	c.762C>T	c.(760-762)agC>agT	p.S254S	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.S56S|SLC36A2_uc010jhv.2_Silent_p.S254S	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	254					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGCAACCGGCTGGGGTCTG	0.438000														32			9		0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118281	79118281	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:79118281G>A	uc022bif.1	+	0	984	c.984G>A	c.(982-984)agG>agA	p.R328R	GCNT1_uc010mpf.3_Silent_p.R328R|GCNT1_uc010mpg.3_Silent_p.R328R|GCNT1_uc010mph.3_Silent_p.R328R|GCNT1_uc004akf.4_Silent_p.R328R|GCNT1_uc010mpi.3_Silent_p.R328R|GCNT1_uc004akh.4_Silent_p.R328R	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	328	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CCATCCAAAGGATTCCTGAAG	0.488000														26			5		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584592	138584592	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:138584592C>T	uc003qhu.3	+	11	2143	c.1972C>T	c.(1972-1974)Ctg>Ttg	p.L658L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	658	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AACTGCCGCCCTGTCTCTAAA	0.607000														63			6		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75580986	75580986	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:75580986G>A	uc003kei.1	+	5	1048	c.914_splice	c.e5-1	p.G305_splice		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	305					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCTTTTCCAGGGTGGAGCTT	0.577000														85			7		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429085	57429085	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57429085C>T	uc002xzw.3	+	0	1050	c.765C>T	c.(763-765)ttC>ttT	p.F255F	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)			GCAGCCAGTTCGCGGCAGTCG	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				10			5		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752119	7752119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7752119C>T	uc002gix.3	+	0	1256	c.419C>T	c.(418-420)tCc>tTc	p.S140F	KDM6B_uc002giw.1_Missense_Mutation_p.S838F	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	838					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACTCAGTATTCCCCTGGCCCC	0.647000														91			9		0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90588416	90588416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90588416C>T	uc001kfj.4	-	2	589	c.221G>A	c.(220-222)aGa>aAa	p.R74K		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	74										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CAAGCAGGTTCTCTCTTTCTA	0.299000														30			5		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50295059	50295059	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50295059C>T	uc003cyq.1	+	7	1126	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	GNAI2_uc003cyo.1_Silent_p.F319F|GNAI2_uc003cyp.1_Silent_p.F319F|GNAI2_uc010hlg.1_Silent_p.F254F|GNAI2_uc011bdn.2_Silent_p.F298F|GNAI2_uc003cyr.1_Silent_p.F254F|BC033528_uc003cys.1_5'Flank	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	335					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ACGTGCAGTTCGTGTTTGACG	0.567000														46			4		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156480761	156480761	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:156480761G>A	uc010lqn.3	-	16	1688	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	LMBR1_uc003wmv.4_Intron|LMBR1_uc003wmw.4_Silent_p.F450F|LMBR1_uc003wmx.4_Silent_p.F298F|LMBR1_uc011kvx.2_Intron	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	450						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CTGCAGAGGTGAATTTTCGGA	0.358000														27			6		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247704	164247704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164247704C>T	uc003iqm.2	-	1	468	c.3G>A	c.(1-3)atG>atA	p.M1I	NPY1R_uc021xtv.1_Missense_Mutation_p.M1I|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	1					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGTTGAATTCATTTTGATTG	0.343000														19			5		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277299	238277299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238277299G>A	uc002vwl.2	-	9	5092	c.4807C>T	c.(4807-4809)Ccc>Tcc	p.P1603S	COL6A3_uc002vwo.2_Missense_Mutation_p.P1397S|COL6A3_uc010znj.1_Missense_Mutation_p.P996S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1603	Nonhelical region.|VWFA 8.				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)		TCTATGTTGGGAAGCTCTCTG	0.552000														122			21		0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641388	15641388	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:15641388G>A	uc010cov.3	+	5	526	c.276G>A	c.(274-276)aaG>aaA	p.K92K	TBC1D26_uc010cou.1_Silent_p.K92K|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	92						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GGAGCACCAAGAAGGTAACAT	0.532000														51			5		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107154	14107154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:14107154C>T	uc001avi.3	+	7	3720	c.2864C>T	c.(2863-2865)tCc>tTc	p.S955F	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.S955F|PRDM2_uc021ogk.1_Missense_Mutation_p.S718F|PRDM2_uc001avk.3_Missense_Mutation_p.S754F|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	955	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGACACCCTCCCTTTCATCC	0.607000														192			13		0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668259	10668259	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10668259A>C	uc002moy.1	-	15	1613	c.1604T>G	c.(1603-1605)gTg>gGg	p.V535G	KRI1_uc002mow.1_Missense_Mutation_p.V154G|KRI1_uc002mox.1_Missense_Mutation_p.V531G	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	535										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTCACAGGGCACCACTGTGCG	0.617000														67			19		0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5125427	5125427	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:5125427C>T	uc002cym.3	+	3	470	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ALG1_uc002cyj.3_Silent_p.F32F|ALG1_uc010bue.3_Silent_p.F32F	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	143					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCTGCTGGTTCGTGGGCTGCC	0.542000														140			16		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78162232	78162232	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78162232G>A	uc002jxw.1	+	4	926	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.L244L|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Silent_p.L7L|CARD14_uc010dhu.1_Silent_p.L42L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	244					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGTGAGCTGGAATTGCAAG	0.587000														27			13		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92949073	92949073	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92949073C>T	uc001yak.3	+	12	1328	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	SLC24A4_uc001yai.3_Silent_p.F371F|SLC24A4_uc010twm.2_Silent_p.F416F|SLC24A4_uc010auj.3_Silent_p.F307F|SLC24A4_uc010twn.2_Silent_p.F191F|SLC24A4_uc001yan.3_Silent_p.F129F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	435						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCTCATCTTCCTCCTGTGCG	0.587000														111			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170145543	170145543	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170145543G>A	uc002ues.3	-	8	1248	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	LRP2_uc010zdf.1_Silent_p.T345T	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	345	EGF-like 1.				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)	TACCAACACAGGTACGGCTGT	0.527000														36			7		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407010	105407010	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105407010C>A	uc010axc.1	-	6	14898	c.14778G>T	c.(14776-14778)gtG>gtT	p.V4926V	AHNAK2_uc021sen.1_Silent_p.V323V|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V4826V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4926						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAAGGAGGCCACAAGCTCTT	0.567000														48			10		0.0581538	0.0585076	1	1	0
ANO4	121601	broad.mit.edu	37	12	101368623	101368623	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101368623G>A	uc010svm.1	+	7	1130	c.558_splice	c.e7-1	p.R186_splice	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Splice_Site_p.R151_splice|ANO4_uc001thx.2_Splice_Site_p.R186_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	186						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTTCTTCCAGGAGAAAAATCT	0.468000										HNSCC(74;0.22)				46			4		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97475081	97475082	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:97475081_97475082GG>AA	uc002swx.3	+	6	2253_2254	c.2155_2156GG>AA	c.(2155-2157)ggg>AAg	p.G719K	CNNM4_uc010yuy.2_Missense_Mutation_p.R235Q	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	719					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTACCAGAACGGGCTGCTGGCT	0.594000														40			5		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120168404	120168404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120168404G>A	uc001txj.2	-	26	3438	c.3382C>T	c.(3382-3384)Cgc>Tgc	p.R1128C	CIT_uc001txh.2_Missense_Mutation_p.R620C|CIT_uc001txi.2_Missense_Mutation_p.R1086C	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1086	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCACCTGGCGAGACTCGGTG	0.597000														31			5		0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469712	21469712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21469712C>T	uc003sva.3	+	2	1110	c.929C>T	c.(928-930)tCt>tTt	p.S310F	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	310					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACCACTACTTCTGCCAGTACT	0.522000														62			4		0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37791993	37791993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:37791993C>T	uc011lbj.1	-	8	1184	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	362					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ACCAGGTATTCCACCTGCTGG	0.423000														121			6		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203668766	203668766	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203668766C>T	uc001gzw.3	+	3	1467	c.570C>T	c.(568-570)ttC>ttT	p.F190F	ATP2B4_uc001gzv.3_Silent_p.F190F|ATP2B4_uc009xaq.3_Silent_p.F190F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	190					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAAAAGTTCTCCATCATCC	0.488000														127			18		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432759	30432759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30432759G>A	uc002wwt.1	-	0	662	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	196					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTTGGGCGTGGAAATCTCTTT	0.632000														59			6		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64719062	64719062	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:64719062G>A	uc010nko.3	+	2	999	c.932G>A	c.(931-933)tGg>tAg	p.W311*		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	300							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCCAGAATGGAAGAAGTTT	0.398000														22			4		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829518	57829518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57829518G>A	uc002yan.3	+	4	4754	c.4754G>A	c.(4753-4755)aGa>aAa	p.R1585K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1585						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)					AAGGAAGGGAGACACAAGACG	0.473000														26			7		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516190	27516190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27516190C>T	uc003xga.1	+	4	644	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SCARA3_uc003xgb.1_Missense_Mutation_p.S168F	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	168					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGACAAATCTCCCAGGAGATG	0.612000														57			4		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65184496	65184496	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:65184496G>A	uc010wqk.2	-	11	1288	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.F367F	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATCCAAAGTCGAAAACTATGG	0.368000														92			10		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111348965	111348965	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:111348965G>A	uc001try.4	-	6	488	c.417C>T	c.(415-417)ttC>ttT	p.F139F	MYL2_uc001trx.4_Silent_p.F120F	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	139	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GGAAGGCGGCGAACATCTGGT	0.617000														94			8		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115143572	115143572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115143572C>T	uc001efd.1	-	13	2527	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.E552K	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	609	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		TTCTCTACTTCATCCAGAATC	0.403000														45			5		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066400	67066400	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:67066400A>G	uc003xvv.3	+	8	1581	c.1355A>G	c.(1354-1356)aAa>aGa	p.K452R	TRIM55_uc003xvu.3_Missense_Mutation_p.K452R|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	452						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.R451Q(1)		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)			CAAACCCGGAAAGCCACCACC	0.557000														23			3		0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334336	39334336	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39334336C>T	uc002hwd.3	-	0	125	c.81G>A	c.(79-81)caG>caA	p.Q27Q		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	27	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGGTGGTCTGGCAGCAGC	0.637000														83			21		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035857	95035857	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95035857C>T	uc010avd.3	+	4	1594	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	SERPINA4_uc001ydk.3_Silent_p.F403F|SERPINA4_uc001ydl.3_Silent_p.F403F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	403					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACCGGCCCTTCCTTGTGGTGA	0.582000														58			5		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126227301	126227301	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126227301C>T	uc010hsi.2	-	3	423	c.369G>A	c.(367-369)gtG>gtA	p.V123V	UROC1_uc003eiz.2_Silent_p.V123V	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	123					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTCCATAGGTCACCAGCTCCT	0.602000														21			4		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756878	71756878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71756878G>A	uc003kce.1	-	1	632	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P149P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTGCTTGACGGGCTTGCCCCC	0.627000														120			11		0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90773985	90773985	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90773985C>T	uc001kfr.3	+	8	1132	c.786C>T	c.(784-786)atC>atT	p.I262I	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Silent_p.I241I|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_3'UTR|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_3'UTR|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	262	Death.|Interaction with HIPK3 (By similarity).		I -> S (in ALPS1A).		activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TAGATGAGATCAAGAATGACA	0.373000														35			6		0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38260270	38260270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38260270C>T	uc001cby.2	+	0	497	c.416C>T	c.(415-417)gCc>gTc	p.A139V	MANEAL_uc001cbx.2_Missense_Mutation_p.A139V|MANEAL_uc001cbz.2_5'Flank	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA.	139						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGATCTCGGCCAGCTACCCC	0.692000														41			5		0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130710405	130710405	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130710405G>A	uc004bsx.2	-	5	957	c.561C>T	c.(559-561)acC>acT	p.T187T	FAM102A_uc004bsw.1_Silent_p.T45T|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.	187	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCAGGGAGTTGGTGCTGCTGC	0.652000														68			5		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100509	93100509	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:93100509C>T	uc001tch.2	+	1	553	c.102C>T	c.(100-102)ctC>ctT	p.L34L	C12orf74_uc001tci.3_Silent_p.L34L|C12orf74_uc021rbt.1_Silent_p.L34L	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	34										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGGGGAGTCTCCTCCAGTTTG	0.612000														36			4		0	0	1	0	0
C14orf21	161424	broad.mit.edu	37	14	24769388	24769388	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24769388C>T	uc001wol.1	+	0	291	c.228C>T	c.(226-228)ccC>ccT	p.P76P	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	76							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		AAGAGGCTCCCGAGACTGGGG	0.612000														92			4		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822641	97822641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97822641C>T	uc003upd.2	+	10	3157	c.2864C>T	c.(2863-2865)tCt>tTt	p.S955F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	955					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCTCAATTCTAAAGACGCA	0.502000														104			14		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114214640	114214640	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:114214640C>T	uc003ibe.4	+	21	2521	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	ANK2_uc003ibd.4_Silent_p.I786I|ANK2_uc003ibf.4_Silent_p.I807I|ANK2_uc011cgc.2_Silent_p.I16I|ANK2_uc003ibc.2_Silent_p.I783I|ANK2_uc011cgb.1_Silent_p.I822I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	807					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)		TGGGCTACATCTCCGTGGTCG	0.502000														32			9		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110757099	110757099	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:110757099G>A	uc003puf.3	-	5	1444	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	SLC22A16_uc003pue.3_Silent_p.G440G	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	459					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATAAATGAGGCCAAATGCTG	0.363000														42			6		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3669122	3669122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3669122C>T	uc001akv.2	+	0	158	c.77C>T	c.(76-78)tCa>tTa	p.S26L		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	26										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCCTGTCCTCATTCAGGTCC	0.572000														84			7		0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681590	44681590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44681590C>T	uc003bet.2	-	3	450	c.317G>A	c.(316-318)gGa>gAa	p.G106E		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	106						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CACGAAAAATCCATAGATCCA	0.527000														144			14		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45315790	45315790	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45315790G>A	uc002ozu.3	+	3	533	c.489G>A	c.(487-489)gaG>gaA	p.E163E	BCAM_uc002ozt.1_Silent_p.E163E	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	163	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGTGATGGAGGACTCTGCCC	0.647000														298			18		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103926	53103927	+	Missense_Mutation	DNP	GG	AA	AA	rs1689291		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:53103926_53103927GG>AA	uc003tpz.3	+	0	578_579	c.562_563GG>AA	c.(562-564)gga>AAa	p.G188K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTGCCCCAAGGGAAGCGCTAGG	0.713000														67			10		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886826	227886826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227886826G>A	uc021vxr.1	-	42	4255	c.4154C>T	c.(4153-4155)cCa>cTa	p.P1385L	COL4A4_uc021vxs.1_Missense_Mutation_p.P1382L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1385	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTCATGCCTGGCGCCCCAGG	0.562000														193			12		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570493	31570493	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31570493G>A	uc002rnv.1	-	28	3250	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1057					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TAGAGGTGGGGATTTTCAGAG	0.542000														66			24		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79571762	79571762	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79571762G>A	uc001jzk.3	-	21	4312	c.4242C>T	c.(4240-4242)atC>atT	p.I1414I	DLG5_uc001jzi.3_Silent_p.I169I|DLG5_uc001jzj.3_Silent_p.I829I|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1414	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACTGCTGCCCGATGATGAGCC	0.657000														62			5		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44713474	44713474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44713474C>T	uc003tln.3	+	5	881	c.722C>T	c.(721-723)cCt>cTt	p.P241L	OGDH_uc003tlm.3_Missense_Mutation_p.P241L|OGDH_uc011kbx.2_Missense_Mutation_p.P237L|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Missense_Mutation_p.P252L|OGDH_uc011kbz.2_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.P74L	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	241					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TTTGAGACCCCTGGGATCATG	0.557000														100			4		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45241245	45241245	+	Missense_Mutation	SNP	G	A	A	rs145462396		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45241245G>A	uc001myo.3	+	6	1030	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	261	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CTGGTACAGCGAGGACTACAT	0.627000														27			6		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730366	37730366	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:37730366G>A	uc003xkm.2	-	3	2010	c.1954C>T	c.(1954-1956)Ctg>Ttg	p.L652L	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	652					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.L652L(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGTGATCCCAGGGCAGAAGAA	0.512000														101			12		0	0	1	0	0
PLLP	51090	broad.mit.edu	37	16	57295928	57295928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57295928G>A	uc002elg.2	-	1	322	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S		NM_015993	NP_057077	Q9Y342	PLLP_HUMAN	Homo sapiens plasmolipin (PLLP), mRNA.	64	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						CCATAGGCCGGATACAGGTGG	0.562000														51			4		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38917675	38917675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38917675G>A	uc003jln.2	+	9	1715	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	438	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATGTCTGGAGAATTGTGAGC	0.398000														60			4		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015871	34015872	+	Missense_Mutation	DNP	CC	TT	TT	rs149704396	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34015871_34015872CC>TT	uc001bxm.1	-	55	8999_9000	c.8822_8823GG>AA	c.(8821-8823)cgg>cAA	p.R2941Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R2797Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2917	Sushi 21.					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)				TGCAGCTGTACCGCACCACTGC	0.599000														65			10		0	0	1	0	0
GRHPR	9380	broad.mit.edu	37	9	37424932	37424932	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:37424932C>T	uc003zzu.1	+	1	215	c.174C>T	c.(172-174)ctC>ctT	p.L58L	GRHPR_uc010mlu.3_5'UTR|GRHPR_uc010mlv.1_5'UTR|GRHPR_uc003zzt.1_5'UTR	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA.	58					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	NAD binding|glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGCTCTGCCTCCTCTCCGACC	0.672000														54			4		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955477	18955477	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18955477C>T	uc001mpg.3	-	0	1073	c.855G>A	c.(853-855)caG>caA	p.Q285Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	285					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTCAGGTTCTGCCTATTTT	0.522000														91			9		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038839	17038839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17038839C>T	uc002nfb.3	-	24	3523	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1117						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						GGCGGTGGCTCGCTCAGACCC	0.617000														77			13		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926676	130926676	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130926676C>T	uc001uil.2	-	7	1386	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	RIMBP2_uc001uim.3_Silent_p.V298V	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	390						cell junction|synapse		p.D389N(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGCCACCACCACGTCCTTGC	0.637000														28			4		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886036	60886036	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60886036G>A	uc002ycq.3	-	73	10270	c.10203C>T	c.(10201-10203)ttC>ttT	p.F3401F	LAMA5_uc021wfw.1_Silent_p.F3401F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3401	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGTGCAACGAAGTGGCCAT	0.692000														45			14		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547963	35547963	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35547963C>T	uc011dte.1	-	8	1079	c.876G>A	c.(874-876)ggG>ggA	p.G292G	FKBP5_uc003okx.2_Silent_p.G292G|FKBP5_uc011dtf.1_Silent_p.G113G|FKBP5_uc003oky.2_Silent_p.G292G	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	292					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ACACTATCTTCCCATACTGAA	0.428000														90			8		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3003365	3003365	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3003365C>T	uc010zqd.2	+	14	1709	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	PTPRA_uc002whj.3_Silent_p.V453V|PTPRA_uc002whk.3_Silent_p.V444V|PTPRA_uc002whl.3_Silent_p.V444V|PTPRA_uc002whm.3_Silent_p.V220V|PTPRA_uc002whn.3_Silent_p.V444V|PTPRA_uc002who.3_Silent_p.V116V	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	453	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTACCTTTGTCGTCATTGATG	0.572000														62			10		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074502	143074502	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:143074502G>A	uc003qjd.3	-	9	7826	c.7083C>T	c.(7081-7083)ccC>ccT	p.P2361P		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2361					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)		CACTTCCCAGGGGGTTCTGGT	0.577000														31			5		0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27995239	27995239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27995239C>T	uc003xgo.4	+	9	1079	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ELP3_uc003xgn.4_Missense_Mutation_p.R296C|ELP3_uc011las.2_Missense_Mutation_p.R192C|ELP3_uc011lat.2_Missense_Mutation_p.R192C|ELP3_uc011laq.2_Missense_Mutation_p.R239C|ELP3_uc011lar.2_Missense_Mutation_p.R219C	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	311					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCCTGCTTTTCGTCCCGATGG	0.453000														37			5		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46392918	46392918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46392918C>T	uc001ncn.1	+	7	1315	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	DGKZ_uc001nch.2_Missense_Mutation_p.S225L|DGKZ_uc010rgq.2_Missense_Mutation_p.S191L|DGKZ_uc010rgr.2_Missense_Mutation_p.S213L|DGKZ_uc001ncj.2_Missense_Mutation_p.S175L|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.S208L|DGKZ_uc001ncl.2_Missense_Mutation_p.S209L|DGKZ_uc009yky.1_Missense_Mutation_p.S209L|DGKZ_uc010rgs.1_Missense_Mutation_p.S186L	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	397					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ATCAGCTGCTCGTGGTGCAAG	0.642000														95			8		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180163482	180163482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180163482C>T	uc001gnz.3	+	10	1498	c.1423C>T	c.(1423-1425)Ctc>Ttc	p.L475F	QSOX1_uc001gny.3_Missense_Mutation_p.L475F	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	475	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGCCGCTGTCCTCTGGCTCTG	0.622000														76			8		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381342	101381342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101381342C>T	uc010svm.1	+	7	1200	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R175W|ANO4_uc001thx.2_Missense_Mutation_p.R210W	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	210						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAGCAGGTTTCGGAGATGGTT	0.507000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			15		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404801	1404801	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1404801C>T	uc010nct.2	+	4	529	c.207C>T	c.(205-207)gtC>gtT	p.V69V	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.V69V|CSF2RA_uc004cpq.2_Silent_p.V69V|CSF2RA_uc004cpn.2_Silent_p.V69V|CSF2RA_uc004cpo.2_Silent_p.V69V|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Silent_p.V69V|CSF2RA_uc010ncv.2_Silent_p.V69V|CSF2RA_uc004cpr.2_Silent_p.V69V	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	69						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGAACAGAGTCGTGGAACCCA	0.502000														222			12		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921025	1921025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1921025G>A	uc002qxe.3	-	10	2397	c.1570C>T	c.(1570-1572)Cac>Tac	p.H524Y	MYT1L_uc002qxd.3_Missense_Mutation_p.H522Y|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	524					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGCTGCGGTGATGTGGGTAC	0.557000														183			18		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727348	42727348	+	Missense_Mutation	SNP	G	A	A	rs144461124	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42727348G>A	uc003clv.1	+	0	338	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	80	BTB.									breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTGTCCCCGGACGTGGTGGC	0.677000														37			6		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813477	88813477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:88813477G>A	uc010iko.1	+	1	421	c.421G>A	c.(421-423)Gga>Aga	p.G141R						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GTCTTCTGCTGGAGGTTCCTT	0.468000														38			6		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27497395	27497395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:27497395G>A	uc002dov.2	-	23	3821	c.3781C>T	c.(3781-3783)Ctt>Ttt	p.L1261F	GTF3C1_uc002dou.3_Missense_Mutation_p.L1261F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1261						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGACACGAAGCCGCGTCATC	0.572000														161			11		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108815	75108816	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75108815_75108816GG>AA	uc002ayt.1	+	2	380_381	c.378_379GG>AA	c.(376-381)gggggg>ggAAgg	p.G127R	LMAN1L_uc010bkd.2_Missense_Mutation_p.G55R|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.G127R	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	127	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCTTGGGGGGCTGGCTTC	0.668000														114			10		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394934	94394934	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94394934G>A	uc001ybz.2	+	2	814	c.489G>A	c.(487-489)agG>agA	p.R163R	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.R101R|FAM181A_uc021saz.1_Silent_p.R101R|FAM181A_uc010aus.2_Silent_p.R101R|FAM181A_uc001yca.2_Silent_p.R101R	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	163										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGGTGCTGAGGAACCCCTACA	0.632000														63			9		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715970	101715970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:101715970G>A	uc001kqj.2	-	3	1353	c.1261C>T	c.(1261-1263)Cat>Tat	p.H421Y	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	421					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGTTGGGATGAAAAGGGACC	0.527000														132			9		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796238	1796238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1796238G>A	uc002ltw.3	-	16	2014	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	ATP8B3_uc002ltv.3_Missense_Mutation_p.P547S|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	594					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCGTCGGGGGAGGCCGCC	0.662000											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			7		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:25570308C>T	uc002kwg.2	-	9	1810	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_uc010xbn.1_Missense_Mutation_p.D420N	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	451	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTCAAAGTCGATTGGCTGG	0.393000														28			5		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220350093	220350093	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220350093C>T	uc010fwg.3	+	30	7635	c.7635C>T	c.(7633-7635)ctC>ctT	p.L2545L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2545					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2544L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAAGCCGGCTCCGCTGGGGCT	0.622000														110			17		0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48399769	48399769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:48399769C>T	uc011mmb.1	+	1	270	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	TBC1D25_uc004dka.1_Missense_Mutation_p.P58S|TBC1D25_uc011mly.1_5'UTR|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_5'UTR	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	58						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCTGTAGATCCCCAGATCAC	0.582000														110			17		0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1944290	1944290	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1944290G>A	uc001luu.4	+	3	243	c.31_splice	c.e3+1	p.E11_splice	TNNT3_uc001lun.2_Splice_Site_p.E11_splice|TNNT3_uc001luw.4_Splice_Site_p.E11_splice|TNNT3_uc001luo.4_Splice_Site_p.E11_splice|TNNT3_uc001lup.4_Splice_Site_p.E11_splice|TNNT3_uc001luq.4_Splice_Site_p.E11_splice|TNNT3_uc001lur.3_Splice_Site_p.E11_splice|TNNT3_uc010qxf.2_Splice_Site_p.E11_splice|TNNT3_uc010qxg.2_Intron|TNNT3_uc001lus.1_Splice_Site|TNNT3_uc001lut.1_Splice_Site	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	11					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AACAGGTGGAGGGTAAGTGTA	0.532000														132			10		0	0	1	0	0
USF2	7392	broad.mit.edu	37	19	35761365	35761365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35761365C>T	uc010xss.1	+	4	554	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	USF2_uc002nyq.1_Missense_Mutation_p.P149S|USF2_uc002nyr.1_Missense_Mutation_p.P82S|USF2_uc002nyt.1_Intron|USF2_uc002nyv.1_5'UTR			Q15853	USF2_HUMAN	Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA.	149					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GATCCAAAATCCCTTCAGCAA	0.587000														63			7		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:55914312G>A	uc003tqz.2	-	2	190	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	25					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R25C(4)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284000														50			10		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786522	121786522	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:121786522G>A	uc003ksw.1	+	9	2186	c.1980G>A	c.(1978-1980)agG>agA	p.R660R	SNCAIP_uc011cwl.1_Silent_p.R218R|SNCAIP_uc003ksy.1_Silent_p.R294R|SNCAIP_uc003ksx.1_Silent_p.R707R|SNCAIP_uc003ksz.1_Silent_p.R294R|SNCAIP_uc010jcu.2_Silent_p.R256R|SNCAIP_uc011cwm.1_Silent_p.R294R|SNCAIP_uc003kta.1_Silent_p.R292R|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.R354R|SNCAIP_uc010jcx.1_Silent_p.R600R|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.R176R	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	660					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAGAAGAGGGAACTGAAGT	0.483000														21			4		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940432	144940432	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144940432G>A	uc003zaa.1	-	0	7003	c.6990C>T	c.(6988-6990)atC>atT	p.I2330I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2330						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)			GCTCCCGGACGATGAGGTCCT	0.697000														305			10		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52249761G>A	uc021uyn.1	-	2	633	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_uc002pxq.3_Missense_Mutation_p.R163C|FPR1_uc021uyo.1_Missense_Mutation_p.R163C	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	163					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000														51			7		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33498838	33498838	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33498838G>A	uc021vft.1	+	15	2756	c.2733G>A	c.(2731-2733)agG>agA	p.R911R	LTBP1_uc002rou.3_Silent_p.R585R|LTBP1_uc002rov.3_Silent_p.R532R|LTBP1_uc010ymz.2_Silent_p.R585R|LTBP1_uc010yna.2_Silent_p.R532R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	911					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AACAACAGAGGAAATGTGTGG	0.363000														16			3		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115558	68115558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68115558G>A	uc001ont.3	+	1	410	c.335G>A	c.(334-336)gGc>gAc	p.G112D	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	112	Beta-propeller 1.				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						TCTCCCGACGGCCTCGCCTGC	0.637000														100			20		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030501	129030501	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:129030501G>A	uc003kvb.1	+	18	2889	c.2889G>A	c.(2887-2889)aaG>aaA	p.K963K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	963	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACTTAACCAAGCCAGAGCCAC	0.398000														25			3		0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11367872	11367872	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:11367872C>T	uc001ikk.2	+	12	1564	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	CELF2_uc010qbj.1_Silent_p.F449F|CELF2_uc001iki.4_Silent_p.F443F|CELF2_uc001ikl.4_Silent_p.F456F|CELF2_uc010qbl.1_Silent_p.F419F|CELF2_uc010qbm.1_Silent_p.F215F|CELF2_uc001iko.4_Silent_p.F423F|CELF2_uc001ikp.4_Silent_p.F425F|CELF2_uc010qbo.1_Silent_p.F338F|CELF2_uc010qbp.1_Silent_p.F215F	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	443	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TGCAGATGTTCATGCCTTTTG	0.403000														56			5		0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460261	113460261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:113460261G>A	uc001ecx.3	-	3	1599	c.767C>T	c.(766-768)aCc>aTc	p.T256I	SLC16A1_uc001ecy.3_Missense_Mutation_p.T256I|SLC16A1_uc001ecz.3_Missense_Mutation_p.T256I	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	256					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	GGTGAATAGGGTTAAGTCCAG	0.383000														52			7		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66058371	66058371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:66058371C>T	uc001dci.3	+	5	915	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	LEPR_uc001dcg.3_Missense_Mutation_p.P176S|LEPR_uc001dch.3_Missense_Mutation_p.P176S|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.P176S|LEPR_uc001dcj.3_Missense_Mutation_p.P176S|LEPR_uc001dck.3_Missense_Mutation_p.P176S	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	176					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACCTCTGGTTCCCCAAAAAGG	0.388000														7			3		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779910	36779910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779910C>T	uc003cgi.2	-	1	732	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	81						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAAGCTCCTCGGGGATCTTC	0.607000														162			7		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169209337	169209337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:169209337C>T	uc003irp.3	-	8	1463	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	391							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)		TTTACATTTTCATTTTCATAG	0.244000														40			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390707	197390707	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390707C>T	uc001gtz.3	+	5	1958	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	CRB1_uc010poz.2_Silent_p.I514I|CRB1_uc009wza.3_Silent_p.I471I|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Silent_p.I583I|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Silent_p.I64I|CRB1_uc001gub.1_Silent_p.I232I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	583	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I583I(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACCTTAATCGACGACTCCT	0.448000														50			5		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20721258	20721258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:20721258G>A	uc010kuh.3	+	14	2075	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ABCB5_uc003suw.4_Missense_Mutation_p.R168Q	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	168	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S612T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGCAAAACGAGGTCTATAT	0.418000														47			8		0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34191814	34191814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34191814C>T	uc002hke.1	-	3	550	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	C17orf66_uc010wck.1_Intron|C17orf66_uc010wcl.1_Intron|C17orf66_uc010wcm.1_Missense_Mutation_p.R100Q	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	134							binding	p.R134*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGGCCTGGATCGCATCTCAGA	0.507000														73			7		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210073	35210073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35210073G>A	uc003okf.1	+	12	1516	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	SCUBE3_uc003okg.1_Missense_Mutation_p.E503K|SCUBE3_uc003okh.1_Missense_Mutation_p.E391K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	504					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAAAACAGAGGAGGCTGGCAG	0.547000														75			4		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522161	6522161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6522161G>A	uc001anh.3	-	8	933	c.845C>T	c.(844-846)aCc>aTc	p.T282I	TNFRSF25_uc001ana.3_Missense_Mutation_p.T90I|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.T46I|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.T273I|TNFRSF25_uc001anf.3_Missense_Mutation_p.T236I|TNFRSF25_uc001ang.3_Missense_Mutation_p.T228I	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	273					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CAACTGGACGGTGCAGATCTT	0.637000														127			9		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819666	17819666	+	Silent	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:17819666G>C	uc022btm.1	-	0	465	c.465C>G	c.(463-465)ctC>ctG	p.L155L	RAI2_uc004cyf.3_Silent_p.L155L|RAI2_uc004cyg.3_Silent_p.L155L|RAI2_uc011miy.2_Silent_p.L105L|RAI2_uc022btl.1_Silent_p.L155L|RAI2_uc004cyh.4_Silent_p.L155L|RAI2_uc010nfa.3_Silent_p.L155L	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	155					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CTCCCTGGAAGAGGTTGTTGT	0.647000														37			20		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031210	43031210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43031210C>T	uc002otv.3	-	1	542	c.407G>A	c.(406-408)gGa>gAa	p.G136E	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.G136E|CEACAM1_uc002otw.3_Missense_Mutation_p.G136E|CEACAM1_uc002otx.3_Missense_Mutation_p.G136E|CEACAM1_uc002oty.3_Missense_Mutation_p.G136E|CEACAM1_uc002otz.3_Missense_Mutation_p.G136E|CEACAM1_uc010eik.3_Missense_Mutation_p.G136E|CEACAM1_uc002oua.3_Missense_Mutation_p.G136E|CEACAM1_uc002oub.3_Missense_Mutation_p.G136E|CEACAM1_uc002ouc.3_Missense_Mutation_p.G136E	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	136	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATGGAACTGTCCAGTTGCTTC	0.498000														250			13		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245862273	245862273	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:245862273C>T	uc001ibf.1	+	13	6552	c.6112C>T	c.(6112-6114)Ctg>Ttg	p.L2038L		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2038					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)			GTACGAGTGGCTGATGAAGGA	0.557000														67			5		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885828	180885828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180885828C>T	uc001gok.2	+	1	656	c.589C>T	c.(589-591)Cat>Tat	p.H197Y		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	197										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACTTCCTGACCATGACAGAGG	0.627000														85			7		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458011	248458011	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248458011C>T	uc010pzj.2	-	0	870	c.870G>A	c.(868-870)gtG>gtA	p.V290V		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CACTGTTCCTCACACTGTAGA	0.478000														109			15		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590535	156590535	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156590535C>T	uc003lwn.3	-	1	841	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	247	Ala-rich.					nucleus		p.S246I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGAGAAGCCGCACTAGCCG	0.582000														88			5		0	0	1	0	0
C15orf38-AP3S2	100526783	broad.mit.edu	37	15	90451591	90451591	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90451591G>A	uc002bos.4	-	2	377	c.222C>T	c.(220-222)ttC>ttT	p.F74F	C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Silent_p.F74F	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	74					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity	p.F74F(1)									CCTTGGCGTCGAATTTACGGC	0.582000														52			12		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105276	60105276	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60105276C>T	uc001npd.3	+	1	224	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	70						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GTTTCATTCTCCTGTCTGTCA	0.463000														69			6		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914805	94914805	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94914805G>A	uc001ydd.1	-	1	367	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	103					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TTGAATCCCAGGCCCTCCAGG	0.602000														41			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766120	77766120	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77766120C>T	uc003yau.2	+	9	7350	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	ZFHX4_uc003yaw.1_Silent_p.F2276F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGTGGTTTTCCCCAGGATCT	0.393000										HNSCC(33;0.089)				49			9		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200090064	200090064	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200090064C>T	uc001gvb.3	+	6	1565	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	NR5A2_uc001gvc.3_Silent_p.F407F|NR5A2_uc009wzh.3_Silent_p.F413F|NR5A2_uc010pph.2_Silent_p.F381F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	453					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTCTGAAATTCTTGGTGCTCT	0.423000														50			11		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962195	165962195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:165962195G>A	uc003iqy.1	+	2	1141	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	TRIM60_uc010iqx.1_Missense_Mutation_p.R324Q|TRIM60_uc021xty.1_Missense_Mutation_p.R324Q	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	324	B30.2/SPRY.					intracellular	zinc ion binding	p.R324Q(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGAAAAAAACGAAACATTTGT	0.418000														73			8		0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41555131	41555131	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41555131C>T	uc003oql.3	+	6	1211	c.753C>T	c.(751-753)gaC>gaT	p.D251D	FOXP4_uc003oqm.3_Silent_p.D249D|FOXP4_uc003oqn.3_Silent_p.D250D	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	251					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGGGGCTGGACCTCACTGGCA	0.687000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		83			5		0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36205895	36205895	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36205895A>C	uc003aon.4	-	2	506	c.394T>G	c.(394-396)Tac>Gac	p.Y132D	RBFOX2_uc003aom.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aol.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aoj.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aok.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aoh.4_Missense_Mutation_p.Y62D|RBFOX2_uc010gwu.3_Missense_Mutation_p.Y42D|RBFOX2_uc003aoo.4_Missense_Mutation_p.Y132D	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	72	RRM.				RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GTACTTCCGTAGAGTGTCAGG	0.542000														133			38		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756685	94756685	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94756685G>A	uc001yct.3	-	1	712	c.246C>T	c.(244-246)ttC>ttT	p.F82F	SERPINA10_uc001ycu.4_Silent_p.F82F	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	82					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGCTGAATCCGAAGTTTGAAG	0.562000														31			6		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547345	28547345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28547345G>A	uc003szq.3	+	3	671	c.281G>A	c.(280-282)aGc>aAc	p.S94N	CREB5_uc003szo.3_Missense_Mutation_p.S61N|CREB5_uc003szr.3_Missense_Mutation_p.S87N	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	94					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GAAGAGGAGAGCAGCAAGCGG	0.567000														239			17		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290335	2290335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2290335G>A	uc002wfx.4	+	1	137	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	14					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	p.T13M(1)		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)	CTGGCAGACGGCCTTCAACCG	0.527000														59			9		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71606176	71606176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:71606176C>T	uc002fap.2	-	5	718	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	207					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)	GCTGTCTTTTCATCAATTAGA	0.418000														49			5		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622733	65622733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65622733G>A	uc002aos.2	-	10	2008	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	586	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGCAGTGGGGTCTGGAGGA	0.607000														99			5		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120884286	120884286	+	Missense_Mutation	SNP	C	T	T	rs148996529	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:120884286C>T	uc003vjq.4	+	17	2651	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	C7orf58_uc003vjs.4_Missense_Mutation_p.S735L|C7orf58_uc003vjt.4_Missense_Mutation_p.S515L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	735						endoplasmic reticulum		p.S735L(2)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTTAGTTGTTCGGACAACAGG	0.468000														38			4		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014049	75014049	+	Missense_Mutation	SNP	G	A	A	rs34260157	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75014049G>A	uc002ayp.4	-	2	957	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	CYP1A1_uc010bjy.3_Missense_Mutation_p.R279W|CYP1A1_uc010bju.3_Missense_Mutation_p.R15W|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.R15W|CYP1A1_uc002ayq.4_Missense_Mutation_p.R279W|CYP1A1_uc010bjz.1_Missense_Mutation_p.R15W	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	279			R -> W (in dbSNP:rs34260157).		cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GTGATGTCCCGGATGTGGCCC	0.502000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					62			26		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739086	138739086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138739086C>T	uc003esy.1	-	0	683	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	140										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCAGAATTCCAGCTCGACG	0.662000														37			5		0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12356714	12356714	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:12356714G>A	uc002kqz.2	-	8	1337	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	381					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCACACCAACGAACATCTCCA	0.542000														68			11		0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840099	109840099	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109840099G>A	uc001dxk.1	-	2	425	c.375C>T	c.(373-375)ctC>ctT	p.L125L	MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	125	Ig-like C2-type 1.							p.Q124P(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GCTGCACGCGGAGTTGGTAGC	0.622000														586			36		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141245	25141245	+	Silent	SNP	G	A	A	rs79278464		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:25141245G>A	uc010ykm.2	-	0	811	c.612C>T	c.(610-612)gtC>gtT	p.V204V	ADCY3_uc002rfs.4_Silent_p.V204V	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	204					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGACCCCCAGGACCAACGTGT	0.632000														46			18		0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102398512	102398512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:102398512C>T	uc001phb.3	-	1	358	c.311G>A	c.(310-312)tGg>tAg	p.W104*	MMP7_uc009yxd.3_Nonsense_Mutation_p.W104*|MMP7_uc010rus.1_Nonsense_Mutation_p.W104*	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	104					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		TTTGGAAGTCCATTTTGGGCT	0.413000														55			9		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892254	72892254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72892254G>A	uc003tyc.3	-	6	1889	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	513	Lys-rich.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCTGGGAGACGAGCTCTATCT	0.438000														59			6		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154571	22154571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:22154571C>T	uc021urr.1	-	3	3414	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.428000														16			4		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48390375	48390375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48390375C>T	uc001rqu.3	-	7	746	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	COL2A1_uc001rqv.3_Missense_Mutation_p.E120K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	189					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGCCTTTTCATCAAATCCT	0.498000														281			16		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162279982	162279982	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162279982C>T	uc002ubw.1	+	5	1595	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	TBR1_uc010foy.2_Silent_p.F144F	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	431						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCGGCTCTTTCCTGCAGGACC	0.726000														23			8		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9063374	9063374	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9063374C>T	uc009vmo.1	-	11	1524	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	508						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAAGTTTCCTTGGCAGGAG	0.532000														63			7		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134646861	134646861	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134646861C>T	uc021qbc.1	-	50	7218	c.7117_splice	c.e50+1	p.E2373_splice		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	534										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCAGTTCCTACCTGTCTCTTC	0.373000														59			5		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925556	45925556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45925556G>A	uc001nbr.3	+	6	1835	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	504	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCTCGACACGAAGACGAACT	0.602000														80			6		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087659	57087659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57087659G>A	uc001njr.3	-	1	934	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P208S|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	208	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCATCCCTGGGAGCAGTGGTC	0.637000														76			5		0	0	1	0	0
SIT1	27240	broad.mit.edu	37	9	35650597	35650597	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35650597G>A	uc003zxe.1	-	1	235	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SIT1_uc022bgl.1_5'UTR	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA.	46					regulation of T cell activation|signal transduction	integral to plasma membrane	SH2 domain binding|kinase binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTAAGAGGACCCACAGTC	0.652000														54			10		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705835	35705836	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35705835_35705836GG>AT	uc003ola.3	+	1	303_304	c.276_277GG>AT	c.(274-279)cgggac>cgATac	p.D93Y	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.D66Y	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	66							binding										GGCACGGGCGGGACTCAGGTGA	0.564000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			12		0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27425702	27425702	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27425702G>A	uc010eyv.1	-	12	1576	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	SLC5A6_uc002rjd.3_Silent_p.S418S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	418					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	p.S417F(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GTCCCATCTGGGAGGAAATAT	0.458000														166			7		0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112266908	112266908	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:112266908C>T	uc001kzd.3	+	2	999	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	248	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CAATAGACTTCATTGGTAGGT	0.502000														68			8		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170678	87170678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:87170678G>A	uc003uiz.2	-	18	2807	c.2314C>T	c.(2314-2316)Ctt>Ttt	p.L772F	ABCB1_uc011khc.2_Missense_Mutation_p.L708F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	772	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTACCTGAAGGAAAAATGTA	0.299000														14			3		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11971910	11971910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:11971910G>A	uc001ila.3	-	19	4237	c.3763C>T	c.(3763-3765)Ccg>Tcg	p.P1255S	UPF2_uc001ilb.3_Missense_Mutation_p.P1255S|UPF2_uc001ilc.3_Missense_Mutation_p.P1255S	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1255	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCTCCCTTCGGATGTTGGTAG	0.463000														315			81		0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134129563	134129563	+	Missense_Mutation	SNP	C	T	T	rs17849561		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:134129563C>T	uc001qhk.3	+	5	690	c.629C>T	c.(628-630)cCa>cTa	p.P210L	ACAD8_uc009zdc.3_3'UTR|ACAD8_uc010sco.1_Missense_Mutation_p.P112L|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.P133L|ACAD8_uc001qhl.3_Missense_Mutation_p.P83L|ACAD8_uc010scr.1_Missense_Mutation_p.P172L|ACAD8_uc009zde.1_Missense_Mutation_p.P83L	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	210				P -> L (in Ref. 4; AAH01964).	branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		ACAGGAGGACCAGGCCCCAAG	0.547000														101			7		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481683	159481683	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:159481683C>T	uc002tzv.3	+	6	1157	c.897C>T	c.(895-897)ccC>ccT	p.P299P	PKP4_uc002tzt.1_Silent_p.P151P|PKP4_uc002tzu.3_Silent_p.P299P|PKP4_uc002tzw.3_Silent_p.P299P|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.P297P|PKP4_uc002uaa.3_Silent_p.P151P	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	299					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCCAATCCCAACGGACCAA	0.622000										HNSCC(62;0.18)				16			4		0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43854021	43854021	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43854021A>C	uc001cje.1	-	1	133	c.85T>G	c.(85-87)Ttc>Gtc	p.F29V	SZT2_uc001cjk.2_5'Flank|MED8_uc001cjg.4_Missense_Mutation_p.F29V|MED8_uc001cjf.4_5'UTR|SZT2_uc001cjh.3_5'Flank|SZT2_uc001cji.1_5'Flank|SZT2_uc009vws.1_5'Flank	NM_052877	NP_443109	Q96G25	MED8_HUMAN	Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA.	29					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCAAATGAAACTCCCCAGA	0.527000														55			6		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677182	37677182	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37677182G>A	uc002ofq.3	-	4	1509	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	ZNF585B_uc002ofr.1_Silent_p.F233F	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	419					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)			CCTTCCGGATGAAGGCCAGTC	0.413000														51			5		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206772821	206772821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206772821G>A	uc001heh.2	-	9	1407	c.1198C>T	c.(1198-1200)Cac>Tac	p.H400Y	EIF2D_uc009xbw.2_Missense_Mutation_p.H276Y	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	400					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACTCACTTGTGGCCAGACTCC	0.532000														67			10		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290128	57290128	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:57290128C>T	uc002ixi.3	+	2	1986	c.1944C>T	c.(1942-1944)atC>atT	p.I648I		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	648					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGATCATATCAATTTCCCAG	0.343000														203			22		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951713	130951713	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:130951713G>A	uc002tqv.3	-	3	803	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	234					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGGAGGACACGATCTGCCCAA	0.557000														102			9		0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813729	45813729	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45813729C>T	uc011aqs.2	+	3	650	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	80								p.D147Y(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTTAAACTTCCATGAGAGGA	0.448000														20			4		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61943027	61943027	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61943027G>A	uc011aau.2	+	12	1690	c.1590G>A	c.(1588-1590)agG>agA	p.R530R	COL20A1_uc011aav.2_Silent_p.R351R	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	530	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AACCTGGCAGGGACTATGAGG	0.706000														36			4		0	0	1	0	0
RAB8A	4218	broad.mit.edu	37	19	16222790	16222790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16222790C>T	uc002ndn.4	+	0	301	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	RAB8A_uc002ndm.1_Missense_Mutation_p.R27C|RAB8A_uc010xpc.2_Missense_Mutation_p.R27C	NM_005370	NP_005361	P61006	RAB8A_HUMAN	Homo sapiens RAB8A, member RAS oncogene family (RAB8A), mRNA.	27					Golgi vesicle fusion to target membrane|cilium assembly|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TGTCCTGTTCCGCTTCTCCGA	0.632000														194			44		0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54661189	54661189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54661189G>A	uc009vzo.3	-	2	421	c.101C>T	c.(100-102)tCa>tTa	p.S34L	CYB5RL_uc001cww.3_5'UTR|CYB5RL_uc001cwy.4_5'UTR|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	34							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CACACAGGGTGAGCAGCCACT	0.612000														81			6		0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442775	61442775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:61442775C>T	uc001xff.4	-	3	953	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	288						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CGGCTGTGTTCTGTAGACAGA	0.398000														69			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140222821G>A	uc003lhs.2	+	0	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E639K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	650	Cadherin 6.				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)			TGTCCTGGACGAAGCGGACTC	0.647000														103			7		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68658271	68658271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:68658271G>A	uc003xxq.4	-	0	350	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.L32F	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	32					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTATAAAGGTGGCTGTGC	0.532000														22			4		0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101100	27101100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27101100C>T	uc003niw.3	+	0	284	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.3_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2ag (HIST1H2AG), mRNA.	84					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CCCGCGTCATCTCCAACTGGC	0.622000														85			8		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949026	37949026	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37949026G>A	uc002hsu.3	-	3	386	c.324C>T	c.(322-324)ttC>ttT	p.F108F	IKZF3_uc002htd.3_Silent_p.F74F|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.F74F|IKZF3_uc010cwe.3_Silent_p.F108F|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.F108F|IKZF3_uc002hsx.3_Silent_p.F108F|IKZF3_uc002hsy.3_Silent_p.F108F|IKZF3_uc002hsz.3_Silent_p.F108F|IKZF3_uc002hta.3_Silent_p.F108F|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	108					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCTACTATCGAATGAGACAA	0.408000														35			5		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568707	61568707	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61568707C>T	uc002jau.2	+	18	2911	c.2877C>T	c.(2875-2877)gcC>gcT	p.A959A	ACE_uc010wpj.2_Silent_p.A385A|ACE_uc010ddv.2_Silent_p.A186A|ACE_uc002jav.2_Silent_p.A385A|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.A205A	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	959	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)	TCTGCCACGCCTCGGCCTGGG	0.607000														85			10		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779857	36779857	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779857C>T	uc003cgi.2	-	1	785	c.294G>A	c.(292-294)ggG>ggA	p.G98G		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	98						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R97S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTCCCATTTCCCCCTCCCCC	0.577000														139			18		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834343	125834343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125834343G>A	uc001uhe.1	+	1	406	c.398G>A	c.(397-399)aGa>aAa	p.R133K	TMEM132B_uc021rgl.1_Missense_Mutation_p.R23K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	133						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACTCCAACAGACCCAAAGTG	0.468000														100			7		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55104004	55104004	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55104004C>T	uc002lgo.3	+	0	1088	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	352					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACAGTATCCCCCAGGCGATCT	0.607000														54			6		0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150464463	150464463	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150464463G>A	uc003qnt.3	+	0	276	c.135G>A	c.(133-135)gaG>gaA	p.E45E		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	45					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		CCTCCCGGGAGGACTCGGCGC	0.711000														24			8		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293274	3293274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3293274G>A	uc002cun.1	-	9	2253	c.2213C>T	c.(2212-2214)tCc>tTc	p.S738F	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.S318F|MEFV_uc021tby.1_Missense_Mutation_p.S241F|MEFV_uc021tbz.1_Missense_Mutation_p.S157F|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	738	B30.2/SPRY.				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)	ATAGATGTGGGATCTGGCTGT	0.542000														92			4		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926546	6926546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6926546G>A	uc002mfw.3	+	15	2194	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	EMR1_uc010dvc.3_Missense_Mutation_p.G654E|EMR1_uc010dvb.3_Missense_Mutation_p.G667E|EMR1_uc010xji.2_Missense_Mutation_p.G578E|EMR1_uc010xjj.2_Missense_Mutation_p.G542E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	719					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)					TTTGGTTATGGGCTGCCGATG	0.512000														112			19		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2693715	2693715	+	Silent	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2693715T>A	uc009zdu.1	+	15	2584	c.2271T>A	c.(2269-2271)gcT>gcA	p.A757A	CACNA1C_uc001qkc.2_Silent_p.A757A|CACNA1C_uc001qjz.2_Silent_p.A757A|CACNA1C_uc001qkd.2_Silent_p.A757A|CACNA1C_uc001qke.2_Silent_p.A757A|CACNA1C_uc001qkf.2_Silent_p.A757A|CACNA1C_uc009zdw.1_Silent_p.A757A|CACNA1C_uc001qkg.2_Silent_p.A757A|CACNA1C_uc001qkh.2_Silent_p.A757A|CACNA1C_uc001qkl.2_Silent_p.A757A|CACNA1C_uc001qkj.2_Silent_p.A757A|CACNA1C_uc001qkk.2_Silent_p.A757A|CACNA1C_uc001qkn.2_Silent_p.A757A|CACNA1C_uc001qkm.2_Silent_p.A757A|CACNA1C_uc001qko.2_Silent_p.A757A|CACNA1C_uc001qkp.2_Silent_p.A757A|CACNA1C_uc001qkq.2_Silent_p.A757A|CACNA1C_uc001qku.2_Silent_p.A757A|CACNA1C_uc001qkr.2_Silent_p.A757A|CACNA1C_uc001qks.2_Silent_p.A757A|CACNA1C_uc001qkt.2_Silent_p.A757A|CACNA1C_uc009zdv.1_Silent_p.A754A|CACNA1C_uc001qkb.2_Silent_p.A757A|CACNA1C_uc001qka.1_Silent_p.A292A|CACNA1C_uc001qki.1_Silent_p.A493A	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	757					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)	ACAACCTGGCTGATGCTGAGA	0.512000														47			4		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16142262	16142262	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:16142262C>T	uc004cxj.3	+	0	839	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	62					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCACTTTGATCAAGATCTTCT	0.493000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			4		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937160	49937160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49937160G>A	uc001ruh.1	+	4	942	c.682G>A	c.(682-684)Gat>Aat	p.D228N	KCNH3_uc010smj.1_Missense_Mutation_p.D168N	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	228					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			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						AGCCACCTGGGATGGCTTCAT	0.617000														40			6		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540475	55540475	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:55540475T>A	uc003xsd.1	+	3	4181	c.4033T>A	c.(4033-4035)Tta>Ata	p.L1345I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1345					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)			CATTGACTTTTTAAACTCCAA	0.383000														41			5		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41749591	41749591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41749591C>T	uc010ehj.3	+	11	1706	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	AXL_uc010ehi.1_Missense_Mutation_p.R506C|AXL_uc010ehk.3_Missense_Mutation_p.R497C|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	506						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCCTACAGTCGTCGGACCAC	0.562000														104			8		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28420502	28420502	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28420502T>A	uc001iua.1	-	7	838	c.434A>T	c.(433-435)aAt>aTt	p.N145I	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.N145I|MPP7_uc009xla.2_Missense_Mutation_p.N145I|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	145	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGGTTCTCTATTTTTGACCAG	0.403000														30			6		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005077	42005077	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:42005077G>A	uc011kbh.2	-	14	3685	c.3594C>T	c.(3592-3594)gtC>gtT	p.V1198V	GLI3_uc011kbg.2_Silent_p.V1139V	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1198					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCGGGTGGACGACCATGCCGT	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					95			10		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72903665	72903665	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72903665C>A	uc003tyc.3	-	5	1102	c.750G>T	c.(748-750)aaG>aaT	p.K250N		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	250	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAACTATCTCCTTATTTGGTG	0.418000														62			4		0.0215528	0.0216996	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072602	134072602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:134072602G>A	uc003iha.3	+	0	2133	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.R436Q	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A435A(1)		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)		GTAGTGGCTCGGGACCGGGGC	0.597000														169			22		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182584161	182584161	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:182584161C>T	uc003flb.3	+	13	1806	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	ATP11B_uc003flc.3_Silent_p.L101L	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	517					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GCAATCCAACCTGGCACCATC	0.443000														19			3		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020154	55020154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55020154C>T	uc002lgn.3	+	0	434	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	26					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTGATTTTATCGCTCATCAGC	0.597000														40			4		0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6733560	6733560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6733560C>T	uc002gdt.3	-	1	246	c.136G>A	c.(136-138)Gat>Aat	p.D46N	TEKT1_uc010vth.2_5'UTR	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	46					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCAATTTCATCCACAAGCCTC	0.478000														52			4		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201893	132201893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132201893C>T	uc002tst.2	-	0	575	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TCAGCACTTTCCTGGTCCCCT	0.537000														20			4		0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65551587	65551587	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:65551587C>T	uc003tup.3	+	5	697	c.462C>T	c.(460-462)ctC>ctT	p.L154L	ASL_uc011kdu.1_Silent_p.L154L|ASL_uc003tuo.3_Silent_p.L154L|ASL_uc011kdv.1_Silent_p.L154L|ASL_uc003tur.3_Silent_p.L154L|ASL_uc003tuq.3_Silent_p.L154L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	154					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGATGTTCTCTTCCCGGGGT	0.632000														39			4		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727994	73727994	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73727994C>T	uc002jpg.3	+	10	1504	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	ITGB4_uc002jph.3_Silent_p.S439S|ITGB4_uc010dgo.3_Silent_p.S439S|ITGB4_uc002jpi.4_Silent_p.S439S|ITGB4_uc010dgp.1_Silent_p.S439S|ITGB4_uc002jpj.3_Silent_p.S439S|ITGB4_uc010wsh.1_5'UTR	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	439					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAAACCTTCCTTCTCCGACG	0.627000														50			11		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56719165	56719165	+	Missense_Mutation	SNP	C	T	T	rs149179511	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56719165C>T	uc001skx.3	-	8	1810	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	PAN2_uc001skw.3_5'Flank|PAN2_uc001sky.3_Missense_Mutation_p.R478Q|PAN2_uc001skz.3_Missense_Mutation_p.R478Q	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	478					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTCCTCTTCTCGTCCTACTGG	0.507000														96			8		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47563360	47563360	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:47563360G>A	uc002leb.2	-	3	603	c.315C>T	c.(313-315)atC>atT	p.I105I	MYO5B_uc021ukb.1_Silent_p.I104I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	105	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.G104C(1)		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)		CAACAAGTACGATACCTGCAA	0.458000														15			3		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167882444C>T	uc003lzu.3	+	18	2835	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	WWC1_uc003lzv.3_Silent_p.S914S|WWC1_uc011den.2_Silent_p.S914S|WWC1_uc003lzw.3_Silent_p.S713S|WWC1_uc010jjf.1_Silent_p.S186S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632000														104			10		0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103002357	103002357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:103002357G>A	uc004bap.1	+	5	843	c.631G>A	c.(631-633)Gag>Aag	p.E211K	INVS_uc010mta.2_Missense_Mutation_p.E115K|INVS_uc011lve.1_Missense_Mutation_p.E115K|INVS_uc004bao.1_Missense_Mutation_p.E211K|INVS_uc004baq.1_Missense_Mutation_p.E115K|INVS_uc004bar.1_Missense_Mutation_p.E115K|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	211					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGCTCCAACAGAGTCTTTACT	0.413000														26			6		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237033	42237033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42237033C>T	uc003ose.2	-	4	859	c.296G>A	c.(295-297)gGa>gAa	p.G99E	TRERF1_uc011duq.1_Missense_Mutation_p.G99E|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.G99E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	99					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGGTTTCCACGTAGCTG	0.592000														126			22		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655381	139655381	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139655381C>T	uc011kqv.2	+	7	1039	c.804C>T	c.(802-804)atC>atT	p.I268I	TBXAS1_uc003vvh.3_Silent_p.I222I|TBXAS1_uc010lne.3_Silent_p.I154I|TBXAS1_uc011kqu.2_Silent_p.I173I|TBXAS1_uc003vvi.3_Silent_p.I222I|TBXAS1_uc011kqw.2_Silent_p.I202I|TBXAS1_uc003vvj.3_Silent_p.I222I	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	221					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)					AATTCTGCATCCCCAGACCTA	0.597000														87			6		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502582	32502582	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:32502582G>A	uc002yow.1	-	25	4466	c.3994C>T	c.(3994-3996)Cga>Tga	p.R1332*	TIAM1_uc011adk.1_Nonsense_Mutation_p.R1332*|TIAM1_uc011adl.1_Nonsense_Mutation_p.R1272*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1332	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCATGTGTCGAAATCTGAAG	0.507000														128			11		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733075	152733075	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152733075G>A	uc001fal.1	+	1	1069	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	KPRP_uc021ozf.1_Silent_p.Q337Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	337	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCAGGCAGGTTCCCCCAC	0.632000														49			6		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376624	78376624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:78376624G>A	uc003kft.3	+	3	432	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	BHMT2_uc011cth.2_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	125	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCAGAAGGATGAAGCTAGAAT	0.453000														44			4		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30888505	30888505	+	Missense_Mutation	SNP	G	A	A	rs145618105	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30888505G>A	uc003aid.2	-	7	720	c.620C>T	c.(619-621)tCg>tTg	p.S207L	SEC14L4_uc011akz.1_Missense_Mutation_p.S207L|SEC14L4_uc003aie.2_Missense_Mutation_p.S192L|SEC14L4_uc003aif.2_Missense_Mutation_p.S153L	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	207	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity	p.S207L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ACTCATGAACGACTTGACCAA	0.537000														47			5		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123235	81123235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:81123235G>A	uc010ijo.3	+	7	1458	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	PRDM8_uc003hmb.4_Missense_Mutation_p.G207S|PRDM8_uc003hmc.4_Missense_Mutation_p.G207S	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	207	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gggcggcggcggcggtggcaa	0.652000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			6		0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128133876	128133876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128133876C>T	uc003vnf.3	+	5	725	c.688C>T	c.(688-690)Cct>Tct	p.P230S	METTL2B_uc003vng.3_Missense_Mutation_p.P165S|METTL2B_uc011kop.2_Missense_Mutation_p.P94S	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	230							methyltransferase activity	p.P230R(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGAATATGATCCTTCTCGGTG	0.358000														67			6		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809887	7809887	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7809887G>A	uc002mht.2	-	4	907	c.840C>T	c.(838-840)tcC>tcT	p.S280S	CD209_uc010xju.1_Silent_p.S119S|CD209_uc010dvp.2_Silent_p.S256S|CD209_uc002mhr.2_Silent_p.S256S|CD209_uc002mhs.2_Silent_p.S210S|CD209_uc002mhu.2_Silent_p.S188S|CD209_uc010dvq.2_Silent_p.S280S|CD209_uc002mhq.2_Silent_p.S280S|CD209_uc002mhv.2_Silent_p.S256S|CD209_uc002mhx.2_Silent_p.S236S|CD209_uc002mhw.2_Silent_p.S144S|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	280	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGGCGGTGATGGAGTCGTGCC	0.587000														80			9		0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15618904	15618904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:15618904G>A	uc004cxa.1	-	0	299	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ACE2_uc004cxb.2_Missense_Mutation_p.S44L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	44					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGAAGCAAGTGAACTTTGATA	0.413000														36			9		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183439712	183439712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:183439712C>T	uc003fly.2	+	4	520	c.325C>T	c.(325-327)Cat>Tat	p.H109Y		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	109					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTTTTAATCATCCTGCTAT	0.348000														83			7		0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691921	31691921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31691921G>A	uc002ynw.3	-	0	687	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	145						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAGAATTGGGGGCGATAGGCA	0.552000														42			5		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62022884	62022884	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62022884A>G	uc002jds.1	-	18	3633	c.3556T>C	c.(3556-3558)Ttc>Ctc	p.F1186L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1186					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)	CAGTAGTAGAACTTGCCGGCA	0.547000														315			17		0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14231337	14231337	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14231337G>A	uc002mye.3	-	3	715	c.543C>T	c.(541-543)atC>atT	p.I181I	PRKACA_uc002myc.3_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	181					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CCAAGCCCTTGATAGGAGTGC	0.612000														60			4		0	0	1	0	0
C1orf187	374946	broad.mit.edu	37	1	11772432	11772432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11772432G>A	uc001asr.1	+	4	933	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	265					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		TGATGGTAACGAAACATCACC	0.567000														85			12		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361447	70361447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:70361447C>T	uc003hek.4	-	0	180	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.E45K	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	45					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E45K(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAAGTTCATCCAGGATT	0.448000														20			4		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111135	7111135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:7111135G>A	uc001mfc.2	+	0	971	c.784G>A	c.(784-786)Ggc>Agc	p.G262S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	262	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGACCGAGACGGCTACGGAGG	0.667000														25			7		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55333102	55333102	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55333102C>T	uc002qhl.4	+	4	801	c.738C>T	c.(736-738)tcC>tcT	p.S246S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.S246S|KIR3DL2_uc010esf.3_Silent_p.S151S|KIR3DL2_uc021vbo.1_Silent_p.S246S|KIR3DL2_uc002qhk.4_Silent_p.S246S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	246	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCTGTAGCTCCCGGAGCTCCT	0.572000														57			7		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92258027	92258027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92258027G>A	uc001pdj.4	+	1	3537	c.3520G>A	c.(3520-3522)Gat>Aat	p.D1174N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1174	Cadherin 11.				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)				CCAGGCTGAAGATCCTGACTC	0.408000										TCGA Ovarian(4;0.039)				203			22		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100934401	100934401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100934401C>T	uc010avx.3	+	2	959	c.866C>T	c.(865-867)tCc>tTc	p.S289F	WDR25_uc001yhn.3_Missense_Mutation_p.S289F|WDR25_uc010avy.3_Intron|WDR25_uc001yho.3_Missense_Mutation_p.S32F	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	289										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CAGACCTACTCCCTGCACACA	0.632000														140			8		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4777097	4777097	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4777097G>A	uc002cxj.2	-	3	547	c.252C>T	c.(250-252)atC>atT	p.I84I	ANKS3_uc002cxi.2_Silent_p.I11I|ANKS3_uc021tcj.1_5'UTR|ANKS3_uc021tck.1_Intron|ANKS3_uc002cxk.3_Intron|ANKS3_uc010uxs.2_Silent_p.I11I|ANKS3_uc002cxm.3_Intron	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	84										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCAGGTGCACGATTGTGTCGT	0.542000														68			14		0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789078	48789078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:48789078G>A	uc002pil.1	+	5	694	c.197G>A	c.(196-198)aGa>aAa	p.R66K	ZNF114_uc010elv.1_Missense_Mutation_p.R66K|ZNF114_uc002pim.1_Missense_Mutation_p.R66K|ZNF114_uc002pin.2_Missense_Mutation_p.R32K	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CTTCCTAAAAGAACATTTCCT	0.443000														67			10		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688486	26688487	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26688486_26688487CC>TT	uc003acb.3	+	1	405_406	c.209_210CC>TT	c.(208-210)ccc>cTT	p.P70L	SEZ6L_uc003acd.3_Missense_Mutation_p.P70L|SEZ6L_uc011akd.2_Missense_Mutation_p.P70L|SEZ6L_uc003ace.3_Missense_Mutation_p.P70L|SEZ6L_uc011akc.2_Missense_Mutation_p.P70L|SEZ6L_uc003acc.3_Missense_Mutation_p.P70L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	70						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTAACAGCGCCCCCCAGTTCCT	0.634000														27			7		0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876774	57876774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57876774C>T	uc002yap.3	+	1	731	c.362C>T	c.(361-363)cCc>cTc	p.P121L	EDN3_uc002yao.1_Missense_Mutation_p.P121L|EDN3_uc002yaq.3_Missense_Mutation_p.P121L|EDN3_uc002yar.3_Missense_Mutation_p.P121L|EDN3_uc002yas.3_Missense_Mutation_p.P121L	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	121					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.P121S(1)|p.P121P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					ATCAACACTCCCGAGTAAGTC	0.587000														94			4		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	661694	661694	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:661694G>A	uc001qii.1	+	13	1270	c.1270_splice	c.e13+1	p.G424_splice	B4GALNT3_uc001qij.1_Splice_Site_p.A326_splice|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	424						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGAGCAGCCAGGTACAGAGTG	0.607000														39			6		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141320084	141320084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:141320084C>T	uc011chi.2	-	8	1023	c.805G>A	c.(805-807)Gat>Aat	p.D269N	CLGN_uc003iii.3_Missense_Mutation_p.D269N	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	269					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.E268Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCATTGGGATCTTCAATTTCT	0.408000														87			5		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232932	56232932	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56232932T>G	uc010wno.2	+	0	418	c.418T>G	c.(418-420)Ttg>Gtg	p.L140V	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAACACTCAATTGTGTGTGGG	0.542000														40			4		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735936	12735936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12735936G>A	uc004cuz.2	+	15	3497	c.2991G>A	c.(2989-2991)atG>atA	p.M997I	FRMPD4_uc011mij.2_Missense_Mutation_p.M989I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	997					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACATGGAGATGGAGCCTGAAA	0.532000														33			17		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351235	60351235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60351235C>T	uc002izq.2	-	2	192	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CAGCCCAGCTCGGTGTCCCTG	0.602000														269			27		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086314	55086314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55086314G>A	uc010ern.3	+	4	938	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	LILRA1_uc002qgg.4_Missense_Mutation_p.E157K|LILRA1_uc002qgf.3_Missense_Mutation_p.E157K|LILRA1_uc010yfe.1_Missense_Mutation_p.E157K|LILRA1_uc010yff.1_Missense_Mutation_p.E145K|LILRA1_uc010ero.3_Missense_Mutation_p.E145K|LILRA1_uc010yfg.1_Missense_Mutation_p.E157K			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	159	Ig-like C2-type 2.				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)		TCTGTGTAAGGAAGGAGAAGA	0.602000														89			24		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86302301	86302301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:86302301G>A	uc002sqs.3	-	11	1842	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	488					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGCACATTAGGGCCGTTGAT	0.572000														20			3		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31877752	31877752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31877752G>A	uc002wyw.1	+	3	480	c.319G>A	c.(319-321)Gag>Aag	p.E107K	BPIFB1_uc010gej.1_Missense_Mutation_p.E107K	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	107						extracellular space	lipid binding										CAATGACCAGGAGCTGCTAGT	0.552000														47			4		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107246	13107246	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:13107246G>A	uc002wod.1	+	8	1450	c.1161G>A	c.(1159-1161)gtG>gtA	p.V387V		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	387					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.L386L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGGACCTCGTGGATTATTTAC	0.433000														94			6		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049224	70049224	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:70049224C>T	uc001svg.3	-	9	1697	c.1470G>A	c.(1468-1470)gtG>gtA	p.V490V	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.V277V|BEST3_uc010stm.2_Silent_p.V384V	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	490						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGAAGTTCTCACACTGGACT	0.562000														28			6		0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91503562	91503562	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:91503562G>A	uc003ulc.1	-	2	622	c.546C>T	c.(544-546)ttC>ttT	p.F182F	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Silent_p.F162F|MTERF_uc010leu.1_Silent_p.F162F	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	182					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTGAGTAGAGGAACTTTATAT	0.378000														25			4		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901537	160901537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160901537G>A	uc002ube.2	-	1	453	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	PLA2R1_uc010zcp.2_Missense_Mutation_p.L81F|PLA2R1_uc002ubf.3_Missense_Mutation_p.L81F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	81	Ricin B-type lectin.				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						ATGTTAAAGAGGCCATGGTTT	0.483000														46			5		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585957	7585957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7585957C>T	uc003mxp.1	+	23	8741	c.8462C>T	c.(8461-8463)tCg>tTg	p.S2821L	DSP_uc003mxq.1_Missense_Mutation_p.S2222L|DSP_uc021yle.1_Missense_Mutation_p.S2378L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2821	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACATGTCTTCGGCTCCGGGG	0.642000														115			9		0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60747314	60747314	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:60747314G>A	uc002agp.3	-	7	1066	c.831C>T	c.(829-831)caC>caT	p.H277H	NARG2_uc002ago.3_Silent_p.H140H|NARG2_uc002agq.4_5'Flank|NARG2_uc010bgk.3_Silent_p.H277H|NARG2_uc002agr.1_Silent_p.H277H	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	277						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						CTATCTGAGGGTGATATCTGG	0.328000														45			4		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643308	39643308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39643308C>T	uc002hwt.3	-	5	1102	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	368	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CGCTCCAGGTCGCAGCGGATC	0.647000														111			6		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441075	149441075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149441075C>T	uc003lrl.3	-	11	2032	c.1837G>A	c.(1837-1839)Gtg>Atg	p.V613M	CSF1R_uc011dcd.2_Missense_Mutation_p.V465M|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.V613M	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	613	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTCACAGCCACCTTCAGGACA	0.622000														76			7		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085016	44085016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44085016G>A	uc001cjr.3	+	27	5044	c.4704G>A	c.(4702-4704)atG>atA	p.M1568I	PTPRF_uc001cjs.3_Missense_Mutation_p.M1559I|PTPRF_uc001cju.3_Missense_Mutation_p.M957I|PTPRF_uc009vwt.3_Missense_Mutation_p.M1128I|PTPRF_uc001cjv.3_Missense_Mutation_p.M1039I|PTPRF_uc001cjw.3_Missense_Mutation_p.M794I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1568	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGAGCGGATGAAGCACGAGA	0.607000														36			9		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496325	62496326	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62496325_62496326GG>AA	uc010deh.2	-	12	1603_1604	c.1560_1561CC>TT	c.(1558-1563)agcctg>agTTtg	p.520_521SL>SL	DDX5_uc002jek.2_Silent_p.520_521SL>SL|DDX5_uc002jej.2_Silent_p.415_416SL>SL|DDX5_uc010wqa.1_Silent_p.441_442SL>SL	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	520					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTTTTAAGCAGGCTAGAGTAAC	0.436000			T	ETV4	prostate									160			17		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8798182	8798182	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:8798182C>T	uc002knr.2	+	9	2471	c.2329C>T	c.(2329-2331)Cga>Tga	p.R777*	SOGA2_uc002knq.2_Nonsense_Mutation_p.R736*|SOGA2_uc002kns.2_Nonsense_Mutation_p.R107*	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1087																	CGACAGTGACCGAGGCTGTGG	0.652000														55			9		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14814329	14814329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:14814329C>T	uc003byy.3	+	16	3114	c.2662C>T	c.(2662-2664)Ctc>Ttc	p.L888F	C3orf20_uc003byz.3_Missense_Mutation_p.L766F|C3orf20_uc003bza.3_Missense_Mutation_p.L766F|C3orf20_uc003bzb.1_3'UTR|C3orf20_uc011avj.2_Missense_Mutation_p.L215F	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	888						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTACATCCTCTCAGCAGGGA	0.602000														41			5		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509910	41509910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41509910G>A	uc002opr.1	+	1	183	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.R19Q	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	59					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TGGCAGTTCCGAGAGAAATAT	0.507000														36			6		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178684	62178684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62178684G>A	uc002yfi.1	-	0	174	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	45							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGCTCGGCGGGGAGCGTGGGC	0.697000														10			3		0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223931832	223931832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223931832C>T	uc001hob.4	+	2	562	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CAPN2_uc010puy.2_Missense_Mutation_p.S35F	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	113	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GCCATTGCCTCCCTCACCTTG	0.493000														111			7		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489167	149489167	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149489167G>A	uc010lpk.3	+	35	5403	c.5403G>A	c.(5401-5403)caG>caA	p.Q1801Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1804	TSP type-1 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGCCCTCAGGACGGCTGCC	0.627000														80			4		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46583360	46583360	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:46583360G>A	uc002ruv.3	+	2	798	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	96	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCCTTGGAGGGTTTCATTG	0.522000														70			5		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154728	9154728	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:9154728G>A	uc003jek.2	-	11	2065	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	451	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCTCTCAGGGAAGAGCTCAA	0.557000														54			9		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94793189	94793189	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:94793189C>T	uc011lgk.2	+	8	1028	c.957C>T	c.(955-957)ttC>ttT	p.F319F	TMEM67_uc010mat.1_Silent_p.F234F|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Silent_p.F238F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	319					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)			CTACAAATTTCAGTTTTAAAG	0.328000														66			7		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841835	208841835	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:208841835G>A	uc002vcl.2	-	2	1576	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	PLEKHM3_uc002vcm.2_Silent_p.I362I	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	362	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGATTTGAGGATGTTTTGGT	0.478000														56			6		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74278176	74278176	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74278176G>A	uc002jrd.1	-	7	3714	c.3534C>T	c.(3532-3534)atC>atT	p.I1178I	QRICH2_uc010dgw.1_Silent_p.I22I	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1178							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGCTCTCAATGATCATCCTGA	0.637000														24			4		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457104	77457104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:77457104C>T	uc004ajl.1	-	3	546	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TRPM6_uc004ajk.1_Missense_Mutation_p.G98E|TRPM6_uc022bib.1_Missense_Mutation_p.G98E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G103E|TRPM6_uc010mpd.1_Missense_Mutation_p.G103E|TRPM6_uc010mpe.1_Missense_Mutation_p.G103E|TRPM6_uc004ajn.1_Missense_Mutation_p.G103E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	103					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G103R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGTGTGCTCTCCATCTTGGAA	0.403000														43			9		0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158590696	158590696	+	Silent	SNP	G	A	A	rs140317813	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:158590696G>A	uc003woc.1	-	2	299	c.60C>T	c.(58-60)gcC>gcT	p.A20A	ESYT2_uc003wob.1_Silent_p.A196A|ESYT2_uc003wod.1_Silent_p.A196A	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	224						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTCCCCGCACGGCTGGTTCTA	0.453000														51			11		0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475779	238475779	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238475779C>T	uc010znl.2	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_015893	NP_056977	P81277	PRRP_HUMAN	Homo sapiens prolactin releasing hormone (PRLH), mRNA.	75						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		TGACCTGCTTCCCCCTGGAAG	0.672000														40			4		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84362762	84362762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:84362762C>T	uc004een.3	-	0	1213	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	218	N-acetyltransferase.						N-acetyltransferase activity	p.S404T(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGGCTTGTGCCTGATTGGCTG	0.532000														29			8		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949539	118949539	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:118949539G>A	uc004bjn.3	+	1	903	c.522G>A	c.(520-522)ttG>ttA	p.L174L	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	174					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			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						TTTTCTCCTTGAAGACAGACC	0.527000														45			4		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11775034	11775034	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:11775034C>T	uc002gne.3	+	51	10241	c.10173C>T	c.(10171-10173)ggC>ggT	p.G3391G	DNAH9_uc010coo.3_Silent_p.G2685G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3391					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTACCTTGGCTTCTTCACAA	0.488000														83			6		0	0	1	0	0
SHISA4	149345	broad.mit.edu	37	1	201860623	201860623	+	Silent	SNP	C	T	T	rs140214802	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201860623C>T	uc001gxa.3	+	3	792	c.474C>T	c.(472-474)ttC>ttT	p.F158F	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	158	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						AGCCTGGCTTCATATACCCAC	0.582000														104			9		0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	595387	595387	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:595387G>A	uc004cph.1	+	2	1003	c.312G>A	c.(310-312)gtG>gtA	p.V104V	SHOX_uc004cpi.3_Silent_p.V104V	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	104					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGAGGACGTGAAGTCGGAGG	0.622000														50			7		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508041	26508041	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:26508041T>C	uc001isp.2	+	3	859	c.356T>C	c.(355-357)cTt>cCt	p.L119P	GAD2_uc009xkr.3_Missense_Mutation_p.L119P|GAD2_uc001isq.2_Missense_Mutation_p.L119P	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	119					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AACATTTTACTTCAGTATGTG	0.383000														61			4		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23687209	23687209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:23687209G>A	uc001rfw.3	-	14	2338	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S	SOX5_uc001rfx.3_Missense_Mutation_p.P733S|SOX5_uc001rfy.3_Missense_Mutation_p.P625S|SOX5_uc001rfv.3_Missense_Mutation_p.P360S|SOX5_uc010siv.2_Missense_Mutation_p.P733S	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	746					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCTACATCTGGATCATCCTCT	0.433000														99			14		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811232	156811232	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156811232T>A	uc010pht.2	-	20	3915	c.3616A>T	c.(3616-3618)Atg>Ttg	p.M1206L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1206	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGCCATCCATGACGAACTTC	0.602000														69			5		0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6666365	6666365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6666365G>A	uc021qtw.1	-	15	2401	c.2221C>T	c.(2221-2223)Cat>Tat	p.H741Y	IFFO1_uc010sfe.2_5'Flank|IFFO1_uc001qpc.2_5'Flank|IFFO1_uc001qpf.2_5'Flank|IFFO1_uc001qpe.2_5'Flank|NOP2_uc009zeq.2_3'UTR|NOP2_uc021qtx.1_Missense_Mutation_p.H741Y	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	745					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGCTGATGATGGTCCTTAGGT	0.547000														238			26		0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40881029	40881029	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40881029C>T	uc001cfj.3	+	6	1072	c.657C>T	c.(655-657)tcC>tcT	p.S219S	SMAP2_uc010ojh.2_Silent_p.S219S|SMAP2_uc001cfk.3_Silent_p.S189S|SMAP2_uc021oma.1_Silent_p.S214S|SMAP2_uc010oji.2_Silent_p.S139S|SMAP2_uc010ojj.2_Silent_p.S35S	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	219	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CTGTTCCATCCCCTTCTTCTT	0.448000														180			7		0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41262675	41262675	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:41262675C>T	uc003gvo.3	+	3	282	c.186C>T	c.(184-186)ttC>ttT	p.F62F	UCHL1_uc003gvp.3_5'UTR	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	62					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						ATGAGAACTTCAGGAAAAAGC	0.408000														31			5		0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481691	21481691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:21481691C>T	uc003zpg.3	-	0	622	c.3G>A	c.(1-3)atG>atA	p.M1I	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	1					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GCTTGATAATCATGGTGAAGG	0.403000														21			4		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805433	125805433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125805433G>A	uc001lhn.3	-	1	1030	c.296C>T	c.(295-297)tCt>tTt	p.S99F	CHST15_uc001lhm.3_Missense_Mutation_p.S99F|CHST15_uc010que.2_Missense_Mutation_p.S99F|CHST15_uc001lho.3_Missense_Mutation_p.S99F	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	99					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGGGCCCCAGAAAGGATGTA	0.488000														70			15		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12234920	12234920	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:12234920C>T	uc001mjz.3	+	6	1098	c.810C>T	c.(808-810)ttC>ttT	p.F270F	MICAL2_uc010rch.1_Silent_p.F270F|MICAL2_uc001mka.3_Silent_p.F270F|MICAL2_uc010rci.2_Silent_p.F270F|MICAL2_uc001mkb.3_Silent_p.F270F|MICAL2_uc001mkc.3_Silent_p.F270F|MICAL2_uc001mkd.3_Silent_p.F99F|MICAL2_uc001mke.3_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	270						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTTTCATCTTCAATCAGAAAT	0.468000														101			8		0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43882257	43882257	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43882257C>A	uc002xnm.1	-	1	225	c.203G>T	c.(202-204)tGt>tTt	p.C68F		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	68	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TTTGATGCCACAAGTGTCAGG	0.527000														23			3		0.115264	0.115915	1	1	0
ANO2	57101	broad.mit.edu	37	12	5672726	5672726	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5672726C>T	uc001qnm.2	-	25	2808	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	917						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCAGGAACATCACGAGGTTCT	0.557000														79			8		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102249077	102249077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102249077G>A	uc001krc.1	-	22	3205	c.3103C>T	c.(3103-3105)Ccc>Tcc	p.P1035S	SEC31B_uc010qpo.1_Missense_Mutation_p.P1034S|SEC31B_uc001krd.1_Missense_Mutation_p.P572S|SEC31B_uc001krf.1_Missense_Mutation_p.P467S|SEC31B_uc001kre.1_Missense_Mutation_p.P467S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	1035	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGCTGTGAGGGAAGAATCCCT	0.542000														44			6		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109773609	109773609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109773609C>T	uc001dwu.2	+	4	657	c.557C>T	c.(556-558)gCc>gTc	p.A186V		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	186					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAAAAGGGGGCCGTGGTGGCT	0.433000														331			96		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633334	138633334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:138633334G>A	uc004fas.1	+	5	663	c.634G>A	c.(634-636)Gat>Aat	p.D212N	F9_uc004fat.1_Missense_Mutation_p.D174N	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	212					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AACCATTTTGGATAACATCAC	0.418000														22			6		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81969923	81969923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81969923G>A	uc002fgt.3	+	26	3170	c.2992G>A	c.(2992-2994)Gac>Aac	p.D998N		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	998	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCAAACTACGACCCCTTCCG	0.557000														53			6		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161840	142161840	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142161840C>T	uc003yvy.3	+	6	1016	c.738C>T	c.(736-738)ttC>ttT	p.F246F	DENND3_uc010mep.3_Silent_p.F259F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	246	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCCCTTCGTGCCCATCC	0.582000														101			22		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026058	32026058	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32026058G>A	uc003nzl.2	-	21	7804	c.7602C>T	c.(7600-7602)tcC>tcT	p.S2534S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2594	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGAGTCAGGGGAGGATCCTG	0.677000														323			44		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380476	78380476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:78380476C>T	uc001ozl.4	-	31	7377	c.6914G>A	c.(6913-6915)aGc>aAc	p.S2305N	ODZ4_uc001ozk.4_Missense_Mutation_p.S530N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2305					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGGCTGTGGCTGCTCTTGCT	0.607000														89			9		0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55956990	55956990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:55956990G>A	uc002ivd.1	-	2	1165	c.446C>T	c.(445-447)cCc>cTc	p.P149L	CUEDC1_uc002ive.1_Missense_Mutation_p.P149L	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	149	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGGAGTCGGGGGAGCCAGAGG	0.597000														86			19		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81665026	81665026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:81665026C>T	uc021ssk.1	-	1	142	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	TMC3_uc021ssj.1_Missense_Mutation_p.E48K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E48K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	48						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AAGATTTGTTCCGGATCATTG	0.448000														29			4		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1261064	1261064	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1261064T>C	uc001lta.3	+	27	3678	c.3619T>C	c.(3619-3621)Ttc>Ctc	p.F1207L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1207	Cys-rich.			Missing (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCCCTTCTTCAATGAGGA	0.612000														17			3		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484391	45484391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45484391C>T	uc001cnd.2	-	13	3521	c.3293G>A	c.(3292-3294)gGa>gAa	p.G1098E		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	1098							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CATGAGCTTTCCAGAGCTTCG	0.552000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			8		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497791	52497791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52497791G>A	uc002pyf.2	-	6	888	c.571C>T	c.(571-573)Cct>Tct	p.P191S	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.P180S|ZNF615_uc002pyh.2_Missense_Mutation_p.P191S|ZNF615_uc010epi.2_Missense_Mutation_p.P187S|ZNF615_uc002pyg.2_Missense_Mutation_p.P72S|ZNF615_uc010ydg.2_Missense_Mutation_p.P185S	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAATTGCAGGAAACTTCATT	0.378000														53			5		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421564	115421564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:115421564G>A	uc011lwx.1	+	4	1625	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	KIAA1958_uc004bgf.1_Missense_Mutation_p.E456K	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	456										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GAAGTTGAACGAGCTGCTCGA	0.547000														59			7		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531867	50531867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50531867C>T	uc021pqb.1	+	0	1277	c.1277C>T	c.(1276-1278)gCt>gTt	p.A426V	C10orf71_uc021pqa.1_Missense_Mutation_p.A425V|C10orf71_uc021pqc.1_Missense_Mutation_p.A426V	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	426										endometrium(1)	1						GAAAACAATGCTCTTGACCTG	0.463000														76			8		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807476	1807476	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1807476G>A	uc003gdr.3	+	13	1902	c.1646_splice	c.e13-1	p.G549_splice	FGFR3_uc003gdu.2_Splice_Site_p.G551_splice|FGFR3_uc003gds.3_Splice_Site_p.G437_splice|FGFR3_uc003gdq.3_Splice_Site_p.G550_splice	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	549	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CGTGTCCCCAGGGCCCCTGTA	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					53			4		0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	883119	883119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:883119C>T	uc021zym.1	+	4	640	c.620C>T	c.(619-621)cCc>cTc	p.P207L	SUN1_uc021zyl.1_Missense_Mutation_p.P207L|SUN1_uc010ksa.1_Missense_Mutation_p.P228L|SUN1_uc003sje.1_Missense_Mutation_p.P207L|SUN1_uc011jvq.2_Intron|SUN1_uc003sjf.3_Missense_Mutation_p.P157L|SUN1_uc003sjg.3_Missense_Mutation_p.P18L	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	207					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCCCGGGCCCGTGTCGAGA	0.547000														323			16		0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20216943	20216943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20216943G>A	uc001bcs.4	+	1	406	c.287G>A	c.(286-288)aGa>aAa	p.R96K		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	96	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAAGCACAGACAGGAGACA	0.438000														57			5		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168260458	168260458	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168260458C>T	uc001gfl.3	+	1	315	c.264C>T	c.(262-264)tcC>tcT	p.S88S	TBX19_uc001gfj.4_Silent_p.S19S	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	88					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CCATGTACTCCCTCCTGCTGG	0.557000														94			12		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128753985	128753985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128753985G>A	uc010fmd.2	-	10	1504	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	SAP130_uc002tpn.2_Missense_Mutation_p.P219S|SAP130_uc002tpp.2_Missense_Mutation_p.P458S|SAP130_uc002tpq.1_Missense_Mutation_p.P431S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	458					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)		CCGGAGATGGGAATCAGGCTA	0.562000														45			8		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901416	215901416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:215901416C>T	uc001hku.1	-	60	12409	c.12022G>A	c.(12022-12024)Gat>Aat	p.D4008N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4008	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D4007N(1)|p.D4007D(1)		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)		AATGTAGGATCGTCGGGTCTC	0.453000										HNSCC(13;0.011)				76			7		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	79082546	79082546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:79082546C>T	uc003ugx.3	-	0	345	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MAGI2_uc003ugy.3_Missense_Mutation_p.E31K|MAGI2-AS3_uc022agq.1_Intron|MAGI2-AS3_uc022agr.1_Intron|MAGI2-AS3_uc010lea.2_5'Flank|MAGI2-AS3_uc022ags.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	31	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCCTTCAGTTCAAAGCCCAGC	0.577000														131			26		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30674595	30674595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30674595G>A	uc002wxh.3	+	8	1237	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	HCK_uc010gdy.3_Missense_Mutation_p.E314K|HCK_uc021wbv.1_Missense_Mutation_p.E313K|HCK_uc002wxi.3_Missense_Mutation_p.E312K	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	334	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCATCACGGAGTTCATGGC	0.577000														53			8		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868693	129868693	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:129868693C>T	uc009yat.3	+	14	1722	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	PTPRE_uc001lkb.3_Silent_p.I424I|PTPRE_uc009yau.2_Silent_p.I424I|PTPRE_uc001lkd.3_Silent_p.I366I|PTPRE_uc010quq.1_Silent_p.I325I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	424	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCGACAAGATCGGGCTGGAGG	0.567000														30			4		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502585	149502585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149502585C>T	uc010lpk.3	+	56	8389	c.8389C>T	c.(8389-8391)Cgt>Tgt	p.R2797C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2800	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGCGCAGTCGTTCCCGACT	0.672000														50			10		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123903191	123903191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123903191C>T	uc001lfv.3	+	6	6164	c.5804C>T	c.(5803-5805)tCc>tTc	p.S1935F	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1935						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.P1934A(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCACTCCCTCCTGCCCAGAT	0.642000														42			4		0	0	1	0	0
FLJ31813	326332	broad.mit.edu	37	10	51821282	51821282	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51821282G>A	uc001jiz.1	-	1		c.1353C>T								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		CCACTGAACAGGCCACCTCCA	0.547000														134			20		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38948707G>A	uc003avz.1	-	6	560	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_uc011anv.1_Missense_Mutation_p.R129C|DMC1_uc003awa.1_Missense_Mutation_p.R129C	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination						52			8		0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45235791	45235791	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:45235791C>T	uc002ruo.3	-	0	752	c.459G>A	c.(457-459)gaG>gaA	p.E153E		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	153						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCACGCTTCTCGCGGGGTG	0.657000														67			37		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798936	38798936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38798936G>A	uc003gtl.3	-	3	1791	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	TLR1_uc021xnn.1_Missense_Mutation_p.S506L	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	506					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAAATCAGCCGATGGGTGGGA	0.418000														69			10		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139283019	139283019	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139283019G>A	uc004chh.3	-	9	1009	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	334	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AATTTCTGCAGGCACTGGAAG	0.592000														53			12		0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927311	28927311	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:28927311C>T	uc003jgz.1	+	0		c.335C>T								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		AGCTATGATTCTGATGAAGGT	0.413000														48			4		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8976448	8976448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8976448G>A	uc001quz.4	+	2	477	c.379G>A	c.(379-381)Gac>Aac	p.D127N		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGTACAGACTGACAAACCTCT	0.507000														84			7		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55373778	55373778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55373778C>T	uc002lgw.3	-	2	343	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	75					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGAGGTTGTTCGTGGTACTTG	0.328000														21			4		0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206774	130206774	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130206774C>A	uc004bqw.4	+	4	1209	c.795C>A	c.(793-795)acC>acA	p.T265T	ZNF79_uc011maf.2_Silent_p.T241T|ZNF79_uc011mag.2_Silent_p.T241T	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAACCTCACCAAACACCAGC	0.517000														68			4		1	1	1	1	0
CYP4F11	57834	broad.mit.edu	37	19	16045048	16045048	+	Silent	SNP	C	T	T	rs140733161		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16045048C>T	uc002nbu.2	-	1	207	c.171G>A	c.(169-171)caG>caA	p.Q57Q	CYP4F11_uc010eab.1_Silent_p.Q57Q|CYP4F11_uc002nbt.2_Silent_p.Q57Q	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	57					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						AAAACCAGTTCTGTTTCGGGG	0.612000														53			4		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87410599	87410599	+	Silent	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:87410599T>A	uc003ydt.3	+	5	643	c.363T>A	c.(361-363)ctT>ctA	p.L121L	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	121					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AATTAAAACTTTCCTTGGAAA	0.328000														34			4		0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22105496	22105496	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22105496C>T	uc003xbl.3	+	3	419	c.336C>T	c.(334-336)ggC>ggT	p.G112G	MIR320A_uc011kzd.1_5'Flank|POLR3D_uc003xbm.3_Silent_p.G112G|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	112					innate immune response|positive regulation of 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	p.G112C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TTGAGCAGGGCCCAGCTGAAA	0.522000														40			7		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56307582	56307582	+	Missense_Mutation	SNP	C	T	T	rs116279591	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56307582C>T	uc010ygf.2	-	7	2917	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	NLRP11_uc002qlz.3_Missense_Mutation_p.E583K|NLRP11_uc002qmb.3_Missense_Mutation_p.E637K|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.	736							ATP binding	p.C735C(1)		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)		GCGATTTCTTCACATTCGCTG	0.463000														60			9		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045866	112045866	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:112045866G>A	uc001ebh.4	-	0	878	c.111C>T	c.(109-111)gtC>gtT	p.V37V	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Silent_p.V37V	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	37					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGTTCAGCTTGACCACGCAGA	0.522000														26			7		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686688	78686688	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:78686688A>T	uc004akc.2	+	6	1306	c.768A>T	c.(766-768)aaA>aaT	p.K256N	PCSK5_uc004ajy.2_Missense_Mutation_p.K256N|PCSK5_uc004ajz.3_Missense_Mutation_p.K256N|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	256	Catalytic.				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						TTGAAGCAAAATCAGTTAGCT	0.557000														96			25		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26294330	26294330	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26294330G>A	uc003abz.1	+	28	4975	c.4725G>A	c.(4723-4725)aaG>aaA	p.K1575K	MYO18B_uc003aca.1_Silent_p.K1456K|MYO18B_uc010guy.1_Silent_p.K1457K|MYO18B_uc010guz.1_Silent_p.K1455K|MYO18B_uc011aka.1_Silent_p.K729K|MYO18B_uc011akb.1_Silent_p.K1088K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1575	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCAACTGAAGAGGAAGTGCC	0.493000														60			6		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523961	23523961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:23523961C>T	uc002zww.3	+	0	1410	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S	BCR_uc002zwx.3_Missense_Mutation_p.P272S	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	272	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GCCCCCTTGGCCGCCCCTGGA	0.667000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									31			10		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129846083	129846083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:129846083G>A	uc009yat.3	+	5	715	c.298G>A	c.(298-300)Gga>Aga	p.G100R	PTPRE_uc001lkb.3_Missense_Mutation_p.G89R|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.G89R|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Missense_Mutation_p.G31R|PTPRE_uc010quq.1_5'Flank	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	89					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G89R(2)|p.G31R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GATGCCCAACGGAATCTTGGA	0.507000														50			5		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285469	238285469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238285469G>A	uc002vwl.2	-	6	3301	c.3016C>T	c.(3016-3018)Cat>Tat	p.H1006Y	COL6A3_uc002vwo.2_Missense_Mutation_p.H800Y|COL6A3_uc010znj.1_Missense_Mutation_p.H399Y|COL6A3_uc002vwq.3_Missense_Mutation_p.H800Y|COL6A3_uc002vwr.3_Missense_Mutation_p.H599Y|COL6A3_uc010znk.1_Missense_Mutation_p.H806Y	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1006	Nonhelical region.|VWFA 5.				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)		ATCTGTGGATGAAGATCTCCA	0.493000														251			26		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192079	152192079	+	Missense_Mutation	SNP	C	T	T	rs141565920		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152192079C>T	uc001ezt.1	-	2	2102	c.2026G>A	c.(2026-2028)Ggc>Agc	p.G676S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	676					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)			CCATGTTGGCCGTAGCTGGAA	0.587000														115			12		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086318	55086318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55086318G>A	uc010ern.3	+	4	942	c.473G>A	c.(472-474)gGa>gAa	p.G158E	LILRA1_uc002qgg.4_Missense_Mutation_p.G158E|LILRA1_uc002qgf.3_Missense_Mutation_p.G158E|LILRA1_uc010yfe.1_Missense_Mutation_p.G158E|LILRA1_uc010yff.1_Missense_Mutation_p.G146E|LILRA1_uc010ero.3_Missense_Mutation_p.G146E|LILRA1_uc010yfg.1_Missense_Mutation_p.G158E			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	160	Ig-like C2-type 2.				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)		TGTAAGGAAGGAGAAGATGAA	0.602000														105			7		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558687	118558687	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118558687G>A	uc001ehk.2	-	28	4256	c.4188C>T	c.(4186-4188)acC>acT	p.T1396T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1396						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)		CTTCAGGTGTGGTTGTAAACC	0.483000														10			7		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64210749	64210749	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64210749C>T	uc002jfn.4	-	6	863	c.804G>A	c.(802-804)gtG>gtA	p.V268V		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	268	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGGCTTTTTTCACAGGTACTT	0.358000														61			13		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150303	34150303	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:34150303C>T	uc004ddg.3	-	0	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	31								p.F30F(1)		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						GCTTGCACTTCGCGAAGCACT	0.617000														24			10		0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8865530	8865530	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:8865530C>T	uc003wsk.2	+	1	419	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	53					gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	GATCCAAGTTCATTACCTCCA	0.348000														69			4		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872921	57872921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57872921G>A	uc001sod.3	-	4	675	c.482C>T	c.(481-483)tCc>tTc	p.S161F	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.S90F|ARHGAP9_uc001soc.3_Missense_Mutation_p.S90F|ARHGAP9_uc001soe.1_Missense_Mutation_p.S169F|ARHGAP9_uc010sro.1_Missense_Mutation_p.S90F	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	90					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S161S(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGGACTCTGGGAAGGGATGGA	0.567000														106			10		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719148	55719148	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:55719148C>T	uc021tio.1	+	3	789	c.738C>T	c.(736-738)atC>atT	p.I246I	SLC6A2_uc002eif.3_Silent_p.I246I|SLC6A2_uc002eig.3_Silent_p.I246I|SLC6A2_uc002eii.3_Silent_p.I141I|SLC6A2_uc002eij.3_Silent_p.I5I	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	246					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCGTCGTCATCGTCTTGTATT	0.527000														70			6		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139476	142139476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142139476G>A	uc003vyt.3	-	1	194	c.149C>T	c.(148-150)tCc>tTc	p.S50F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CCAATAAAGGGATACATGACC	0.517000														35			12		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595425	44595425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44595425C>T	uc001clp.3	+	1	540	c.482C>T	c.(481-483)tCg>tTg	p.S161L	KLF17_uc009vxf.1_Missense_Mutation_p.S124L	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	161					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CTGCCAGTCTCGGCTTCCACT	0.577000														36			6		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288223	45288223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45288223G>A	uc010olf.2	-	21	3488	c.3476C>T	c.(3475-3477)tCc>tTc	p.S1159F	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Missense_Mutation_p.S857F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1159					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)					CACGGTCATGGAGGTAGTCAC	0.647000									Basal Cell Nevus syndrome					93			20		0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973909	117973909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117973909C>T	uc021qrd.1	+	3	542	c.251C>T	c.(250-252)cCc>cTc	p.P84L	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.P84L|TMPRSS4_uc010rxo.2_Missense_Mutation_p.P82L|TMPRSS4_uc010rxs.2_Missense_Mutation_p.P44L|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.P59L|TMPRSS4_uc010rxt.2_Missense_Mutation_p.P59L	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	84	LDL-receptor class A.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTGGACTGTCCCTTGGGGGAG	0.587000														145			14		0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228419176	228419176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228419176C>T	uc002vpc.2	+	12	1904	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	AGFG1_uc002vpd.2_Missense_Mutation_p.P574S|AGFG1_uc002vpe.2_Missense_Mutation_p.P550S|AGFG1_uc002vpf.2_Missense_Mutation_p.P512S	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	552					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGGACAATTTCCAACAGGAAG	0.343000														29			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545811	82545811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	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														7			5		0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528535	17528535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:17528535C>T	uc003gpg.1	+	2	631	c.529C>T	c.(529-531)Cag>Tag	p.Q177*		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	177						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GAAGCTCTTCCAGTTTGTGGT	0.557000														53			4		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96077343	96077343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:96077343C>T	uc001tei.3	-	5	1774	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E	NTN4_uc009ztf.3_Missense_Mutation_p.G442E|NTN4_uc009ztg.3_Missense_Mutation_p.G405E	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	442	Laminin EGF-like 3.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCCATAGTCTCCGAAGCCCCA	0.597000														38			6		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37296031	37296031	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37296031C>T	uc002hrg.2	-	1	343	c.131G>A	c.(130-132)tGg>tAg	p.W44*	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	44					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTCCGGTTCCAGCCCCGCAC	0.662000														41			9		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144911926	144911926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:144911926G>A	uc021ouh.1	-	15	2485	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	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.S728L|PDE4DIP_uc001elx.4_Missense_Mutation_p.S794L|PDE4DIP_uc001emd.2_Missense_Mutation_p.S728L|PDE4DIP_uc001emc.2_Missense_Mutation_p.S728L|PDE4DIP_uc001emb.1_Missense_Mutation_p.S891L|PDE4DIP_uc001eme.1_Missense_Mutation_p.S257L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	728					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)		GGCAGTCAATGAAGTGCTATC	0.378000			T	PDGFRB	MPD									70			4		0	0	1	0	0
CPLX2	10814	broad.mit.edu	37	5	175306869	175306869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:175306869G>A	uc003mde.1	+	4	572	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CPLX2_uc003mdf.1_Missense_Mutation_p.E76K|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	76	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAAGAAGAAGGAGGAGAAGGA	0.647000														16			5		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120347241	120347241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:120347241C>T	uc003edw.3	-	13	1784	c.1324G>A	c.(1324-1326)Gca>Aca	p.A442T	HGD_uc003edv.3_Missense_Mutation_p.A301T	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	442					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TTAGGTTCTGCTGGGTTCCTG	0.473000														78			7		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99413844	99413844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:99413844C>T	uc002szf.1	-	7	2867	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	858										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GGCTTGCTTTCCTGGTTCAGA	0.622000														110			10		0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266612	55266612	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55266612G>A	uc009vzt.1	-	0	330	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TTC22_uc001cxz.4_Silent_p.F75F	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	75							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGTAGAATGCGAAAGCGCCCA	0.711000														13			6		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80887143	80887143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80887143C>T	uc002kfy.1	+	30	2978	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S	TBCD_uc002kfz.3_Missense_Mutation_p.P950S|TBCD_uc002kgb.1_Missense_Mutation_p.P275S|TBCD_uc002kgd.3_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	950					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AAAGCTGTTTCCCAGGTACTG	0.637000														25			4		0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119348287	119348287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119348287C>T	uc003ecu.3	+	10	1409	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	PLA1A_uc003ecv.3_Missense_Mutation_p.S432F|PLA1A_uc011bjc.2_Missense_Mutation_p.S275F|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	448	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGACTGTTTCCTGTGACCTG	0.453000														59			10		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102762545	102762545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102762545C>T	uc001ksj.3	+	1	420	c.250C>T	c.(250-252)Cct>Tct	p.P84S	LZTS2_uc010qpw.2_Missense_Mutation_p.P84S|LZTS2_uc001ksk.3_Missense_Mutation_p.P84S|LZTS2_uc001ksl.3_Missense_Mutation_p.P84S|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	84	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAAGGCTGTCCCTGTCACCAG	0.627000														24			6		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118365010	118365010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118365010C>T	uc001lco.1	+	11	1303	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.L429F	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	429	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAATCCAACCCTCCCCAAAGT	0.428000														52			5		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922058	131922058	+	Silent	SNP	G	A	A	rs150100724		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:131922058G>A	uc003ytd.4	-	5	1792	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_uc010mds.3_Silent_p.S512S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	512					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473000										HNSCC(32;0.087)				53			6		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799447	9799447	+	Silent	SNP	C	T	T	rs141116659		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9799447C>T	uc003bst.3	-	10	1181	c.996G>A	c.(994-996)gcG>gcA	p.A332A	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Silent_p.A106A|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	332					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCCCATGGCTCGCCGTCTGCC	0.652000														41			4		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52516652	52516652	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:52516652G>A	uc001vfw.2	-	14	3439	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	ATP7B_uc001vfy.2_Silent_p.F983F|ATP7B_uc010adv.2_Silent_p.F664F|ATP7B_uc001vfx.2_Silent_p.F887F|ATP7B_uc010tgt.1_Silent_p.F1029F|ATP7B_uc010tgu.1_Silent_p.F1046F|ATP7B_uc010tgv.1_Silent_p.F1016F|ATP7B_uc001vfv.2_Silent_p.F366F|ATP7B_uc010tgs.1_Silent_p.F305F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1094			F -> L (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCACTGCCTGGAAGTCCGTGC	0.562000									Wilson disease					54			13		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585531	32585532	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32585531_32585532CT>TA	uc003xiv.2	+	5	1084_1085	c.567_568CT>TA	c.(565-570)ttctgt>ttTAgt	p.C190S	NRG1_uc022ats.1_Missense_Mutation_p.C135S|NRG1_uc003xip.3_Missense_Mutation_p.C371S|NRG1_uc003xir.3_Missense_Mutation_p.C190S|NRG1_uc010lvl.3_Missense_Mutation_p.C173S|NRG1_uc010lvm.3_Missense_Mutation_p.C156S|NRG1_uc010lvn.3_Missense_Mutation_p.C156S|NRG1_uc003xis.3_Missense_Mutation_p.C190S|NRG1_uc011lbf.1_Missense_Mutation_p.C190S|NRG1_uc010lvo.2_Missense_Mutation_p.C190S|NRG1_uc003xiu.2_Missense_Mutation_p.C190S|NRG1_uc003xiw.2_Missense_Mutation_p.C190S|NRG1_uc003xit.2_Missense_Mutation_p.C190S|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.C139S|NRG1_uc010lvq.2_Missense_Mutation_p.C115S|NRG1_uc003xix.3_Missense_Mutation_p.C80S|NRG1_uc003xiy.3_Missense_Mutation_p.C245S|NRG1_uc011lbg.1_Missense_Mutation_p.C36S|NRG1_uc011lbh.1_Missense_Mutation_p.C36S|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_5'UTR	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	190	EGF-like.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.C190G(3)|p.C245G(1)|p.C371G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGAAAACTTTCTGTGTGAATGG	0.441000														50			8		0	0	1	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57473199	57473199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57473199G>A	uc002ell.1	-	2	376	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CIAPIN1_uc002elm.1_Missense_Mutation_p.P56S|CIAPIN1_uc010vhm.1_Missense_Mutation_p.P69S	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.	69					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTGCTTCCTGGGACTAAACCT	0.483000														148			23		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115714	220115714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220115714G>A	uc002vkt.1	-	3	765	c.707C>T	c.(706-708)tCc>tTc	p.S236F	TUBA4A_uc010zkz.1_Missense_Mutation_p.S221F|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	236					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGATGGAGGAGACAATTTG	0.557000														51			10		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704239	47704239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:47704239G>A	uc002zir.1	-	0	998	c.962C>T	c.(961-963)cCt>cTt	p.P321L	YBEY_uc002zit.1_5'Flank|YBEY_uc002ziu.1_5'Flank|YBEY_uc010gqh.3_5'Flank|YBEY_uc002ziv.3_5'Flank|YBEY_uc002ziw.3_5'Flank|YBEY_uc002zix.3_5'Flank|YBEY_uc002ziy.3_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	321					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTGTCTGGAGGATGATCGCC	0.532000														128			9		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796211	41796211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41796211G>A	uc001zoa.3	-	19	2756	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S	LTK_uc001zob.3_Missense_Mutation_p.P799S|LTK_uc010ucx.1_Missense_Mutation_p.P730S|LTK_uc010bcg.2_Missense_Mutation_p.P558S	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	860					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGATAAGTGGGATTCCAAAGG	0.602000										TSP Lung(18;0.14)				47			5		0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44282250	44282250	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44282250C>T	uc003beg.3	-	5	1015	c.882G>A	c.(880-882)tgG>tgA	p.W294*	PNPLA5_uc003beh.3_Nonsense_Mutation_p.W180*|PNPLA5_uc021wqw.1_Nonsense_Mutation_p.W294*|PNPLA5_uc021wqx.1_Nonsense_Mutation_p.W180*|PNPLA5_uc011aqc.2_Nonsense_Mutation_p.W154*	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	294					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGGGCACTTTCCAGTTGAGAG	0.577000														58			9		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689749	153689749	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153689749T>G	uc004flm.3	+	2	1078	c.905T>G	c.(904-906)cTg>cGg	p.L302R		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	302	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCCTGGCCTGCTGCTGGCC	0.662000														50			12		0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078770	170078770	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:170078770C>T	uc003fgu.3	+	1	1363	c.651C>T	c.(649-651)tcC>tcT	p.S217S	SKIL_uc011bps.2_Silent_p.S197S|SKIL_uc003fgv.3_Silent_p.S217S|SKIL_uc003fgw.3_Silent_p.S217S	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	217					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity	p.P216Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATGCCCCATCCTGTGGGCTGA	0.403000														62			6		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432245	117432246	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:117432245_117432246GG>AA	uc003vjf.3	-	3	1096_1097	c.1004_1005CC>TT	c.(1003-1005)ccc>cTT	p.P335L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	335										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGAAACTAGGGGACTCCCTGT	0.500000														136			9		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081280	97081280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:97081280C>T	uc004aup.1	-	6	1759	c.1738G>A	c.(1738-1740)Gga>Aga	p.G580R		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	580										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TCCTGACATCCCAAAAGCACA	0.667000														48			4		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720092	146720092	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:146720092C>T	uc010khw.1	+	7	2387	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	GRM1_uc010khv.1_Silent_p.F639F|GRM1_uc003qll.2_Silent_p.F639F|GRM1_uc011edz.1_Silent_p.F639F|GRM1_uc011eea.1_Silent_p.F639F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	639					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.F639fs*37(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGCATCTTCCTTGGTTATG	0.517000														110			6		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901748	51901748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:51901748G>A	uc002iua.2	+	0	1510	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	452	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						AGCTGGGAATGAAAGAGGAGC	0.488000														27			4		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891091	2891091	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:2891091C>T	uc002kln.3	+	3	1125	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	322					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACAGTAAGATCGACGCCCTGA	0.562000														78			5		0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21735683	21735683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21735683G>A	uc002kux.3	+	3	370	c.218G>A	c.(217-219)gGa>gAa	p.G73E	CABYR_uc021uig.1_Missense_Mutation_p.G55E|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Missense_Mutation_p.G73E|CABYR_uc002kuz.3_Missense_Mutation_p.G73E|CABYR_uc002kva.3_Missense_Mutation_p.G55E|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Missense_Mutation_p.G73E|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	73					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TGGTCAGAAGGAACGACACCA	0.323000														49			5		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918790	11918790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11918790G>A	uc001atj.3	-	0	203	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	34					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	GTCCGAGGCTGAACCGGGGCT	0.627000														145			7		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983489	127983489	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127983489G>A	uc003eki.3	+	3	689	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	217						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCATCCCAACGAGAGATCCCT	0.562000														146			10		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924578	188924578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:188924578G>A	uc003izh.1	+	3	1025	c.617G>A	c.(616-618)aGa>aAa	p.R206K	ZFP42_uc003izi.1_Missense_Mutation_p.R206K|ZFP42_uc021xvm.1_Missense_Mutation_p.R206K	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	206					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCTGCCCTGAGAAAGCATCTC	0.478000														79			19		0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185797717	185797717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:185797717G>A	uc003fpy.3	-	6	730	c.665C>T	c.(664-666)tCg>tTg	p.S222L	ETV5_uc003fpz.3_Missense_Mutation_p.S180L	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	180					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)			CTCTGGAAGCGAATGGGGGGC	0.617000			T	"""TMPRSS2, SCL45A3"""	Prostate									70			5		0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2564905	2564905	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2564905C>T	uc003smf.3	+	2	551	c.534C>T	c.(532-534)tcC>tcT	p.S178S	LFNG_uc021zyw.1_Silent_p.S107S|LFNG_uc021zyx.1_Silent_p.S49S|LFNG_uc003smg.3_Silent_p.S178S|MIR4648_uc021zyy.1_5'Flank	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	178					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGGCGCTGTCCTGCAAGATGG	0.677000														27			5		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24390630	24390630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24390630C>T	uc001bin.4	-	29	3717	c.3554G>A	c.(3553-3555)gGa>gAa	p.G1185E	MYOM3_uc001bil.4_Missense_Mutation_p.G78E|MYOM3_uc001bim.4_Missense_Mutation_p.G842E	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1185	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGTAAATTCCCTTGTCCTT	0.557000														61			6		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115393910	115393910	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115393910C>T	uc001lal.3	-	14	1652	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	NRAP_uc001laj.3_Silent_p.Q496Q|NRAP_uc001lak.3_Silent_p.Q461Q	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	496						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)		CTTGAACAATCTGTGGGGTGT	0.468000														62			14		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695015	109695015	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109695015G>A	uc004eor.2	+	2	1416	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	RGAG1_uc011msr.1_Silent_p.V390V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	390										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATCCGCCAGTGAGAGCAACAG	0.537000														128			15		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72892138	72892138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:72892138G>A	uc003pga.3	+	5	1041	c.964G>A	c.(964-966)Ggg>Agg	p.G322R	RIMS1_uc011dyb.2_5'UTR|RIMS1_uc003pgc.3_5'UTR|RIMS1_uc003pgb.4_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	322					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCTTGAGAAAGGGCGATCACA	0.577000														16			3		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6021700	6021700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:6021700C>T	uc002wmo.2	-	4	2415	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	731						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGCGGGTAATCATCAAAGGCC	0.607000														36			9		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72256034	72256034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:72256034G>A	uc021rkj.1	-	1	1286	c.863C>T	c.(862-864)cCt>cTt	p.P288L	DACH1_uc021rkk.1_Missense_Mutation_p.P288L|DACH1_uc021rkl.1_Missense_Mutation_p.P288L	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	286	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGCCTTCCAGGTCTAGAACT	0.403000														19			11		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114168252	114168252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:114168252G>A	uc001kzu.3	+	5	785	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ACSL5_uc001kzs.3_Missense_Mutation_p.E169K|ACSL5_uc001kzt.3_Missense_Mutation_p.E169K|ACSL5_uc009xxz.3_Missense_Mutation_p.E169K|ACSL5_uc010qrj.2_5'Flank	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	169					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTTGGGACCAGAAGCCATCGT	0.393000														46			4		0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72521938	72521938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72521938C>T	uc002jkx.2	-	1	443	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CD300LB_uc010wqz.1_Missense_Mutation_p.E144K	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	107				G -> R (in Ref. 1; AAV69612).		integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CCTCTTCTTTCAATCCCACAC	0.527000														161			59		0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184241037	184241037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:184241037C>T	uc010isa.1	-	0	891	c.335G>A	c.(334-336)aGa>aAa	p.R112K	WWC2_uc010irx.3_3'UTR|WWC2_uc003ivk.4_3'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_3'UTR|WWC2_uc003ivn.4_3'UTR|WWC2_uc010irz.3_3'UTR|WWC2_uc003ivo.4_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	Homo sapiens claudin 22 (CLDN22), mRNA.	112					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTTGAGATCTCTCTGACTCTC	0.547000														37			4		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968540	200968540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200968540C>T	uc001gvs.2	-	12	2139	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	KIF21B_uc009wzl.2_Missense_Mutation_p.E608K|KIF21B_uc001gvr.2_Missense_Mutation_p.E608K|KIF21B_uc010ppn.2_Missense_Mutation_p.E608K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	608					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						TCCTCATCTTCATCCTCGCGC	0.642000														71			9		0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165370563	165370563	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165370563G>A	uc001gda.3	-	9	1791	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	RXRG_uc021pea.1_Silent_p.I320I	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	443	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGGTGTCCCCGATGAGCTTGA	0.602000														95			20		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814058	137814058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:137814058C>T	uc002tva.1	+	1	115	c.115C>T	c.(115-117)Cat>Tat	p.H39Y	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	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)		GTGGTGTTTTCATGTTGACGG	0.512000														26			7		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17417237	17417237	+	Silent	SNP	G	A	A	rs146584228		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17417237G>A	uc001mnc.3	-	34	4353	c.4227C>T	c.(4225-4227)atC>atT	p.I1409I		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1409	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGTTTGGCGATGTCAATGC	0.632000														305			32		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576652	33576652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33576652C>T	uc003jia.1	-	18	3642	c.3479G>A	c.(3478-3480)gGg>gAg	p.G1160E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1075E	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1160	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTCTTCCCCTGAGCCACT	0.463000										HNSCC(64;0.19)				32			4		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084844	53084844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:53084844C>T	uc003xqz.2	-	4	733	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E158K|ST18_uc011lds.1_Missense_Mutation_p.E98K|ST18_uc003xra.2_Missense_Mutation_p.E193K|ST18_uc003xrb.2_Missense_Mutation_p.E193K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	193						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)				GAGTTACTTTCATTGTCATCA	0.438000														68			5		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35863062	35863062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35863062C>T	uc001byt.3	+	19	3195	c.3115C>T	c.(3115-3117)Ccc>Tcc	p.P1039S	ZMYM4_uc009vuu.3_Missense_Mutation_p.P1007S|ZMYM4_uc001byu.3_Missense_Mutation_p.P715S|ZMYM4_uc009vuv.3_Missense_Mutation_p.P778S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1039					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAAAAGCTTCCCACACATCC	0.398000														41			4		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515437	56515437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56515437G>A	uc002qmj.3	+	1	418	c.418G>A	c.(418-420)Gag>Aag	p.E140K	NLRP5_uc002qmi.3_Missense_Mutation_p.E140K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	140	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AACCCTCTCGGAGAAGGCACG	0.517000														56			4		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348587	3348587	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3348587G>A	uc001akf.3	+	15	3661	c.3579G>A	c.(3577-3579)ggG>ggA	p.G1193G	PRDM16_uc001ake.3_Silent_p.G1193G|PRDM16_uc009vlh.3_Silent_p.G893G|PRDM16_uc001akc.3_Silent_p.G1192G	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1193	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)		CGACTTTTGGGAAGGGGCTGG	0.532000			T	EVI1	"""MDS, AML"""									82			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680125	181680125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181680125G>A	uc009wxt.3	+	7	1286	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CACNA1E_uc001gow.3_Missense_Mutation_p.R364Q|CACNA1E_uc009wxs.3_Missense_Mutation_p.R364Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	364					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R364R(1)		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						GTGGAGAACCGAAGGGCTTTC	0.537000														50			5		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43714762	43714762	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:43714762C>T	uc011aev.2	+	13	1907	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	ABCG1_uc002zam.3_Silent_p.S566S|ABCG1_uc002zan.3_Silent_p.S590S|ABCG1_uc002zao.3_Silent_p.S585S|ABCG1_uc002zap.3_Silent_p.S588S|ABCG1_uc002zaq.3_Silent_p.S600S|ABCG1_uc002zar.3_Silent_p.S599S|ABCG1_uc010gpb.2_Silent_p.L241L	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	600	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCTACATCTCCTATGTCAGGT	0.617000														78			6		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018715	112018715	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:112018715C>T	uc004bdz.1	-	7	1093	c.798G>A	c.(796-798)gcG>gcA	p.A266A	EPB41L4B_uc004bea.3_Silent_p.A266A	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	266	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGCCACTTCGCTTTATTCA	0.438000														82			13		0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31741063	31741063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31741063G>A	uc003akq.3	-	0	1187	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	PATZ1_uc003akp.3_Missense_Mutation_p.R176C|PATZ1_uc003akr.3_Missense_Mutation_p.R176C|PATZ1_uc003aks.3_Missense_Mutation_p.R176C|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	176					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCAGGGGGGCGAAAGAGCATT	0.592000														117			10		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38429504	38429504	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:38429504C>T	uc003tgu.3	-	19	2097	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	AMPH_uc003tgv.3_Silent_p.V585V|AMPH_uc003tgt.3_Silent_p.V512V	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	627	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCAGTGTTTCCACCTGCAGAA	0.433000														87			9		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397454	13397454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13397454G>A	uc002mwy.3	-	19	3652	c.3416C>T	c.(3415-3417)aCc>aTc	p.T1139I	CACNA1A_uc010dzc.2_Missense_Mutation_p.T665I|CACNA1A_uc010xnd.2_Missense_Mutation_p.T1142I|CACNA1A_uc021ups.1_Missense_Mutation_p.T1139I|CACNA1A_uc010xne.2_Missense_Mutation_p.T1142I|CACNA1A_uc010dze.2_Missense_Mutation_p.T1139I|CACNA1A_uc021upt.1_Missense_Mutation_p.T1140I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1140					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATTCTCGGGGGTCTTGGGGGG	0.647000														23			5		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39881380	39881380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39881380C>T	uc002hxm.1	-	11	1601	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R478Q|HAP1_uc002hxo.1_Missense_Mutation_p.R461Q|HAP1_uc002hxp.1_Missense_Mutation_p.R453Q	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	530	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CACCTGCTCTCGATCCTCACT	0.607000														160			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026256	9026256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9026256C>T	uc002mkp.3	-	13	36934	c.36730G>A	c.(36730-36732)Gag>Aag	p.E12244K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12246	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E12244*(1)		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						ATGTCCTCCTCGTACTGCAGG	0.532000														85			9		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786120	112786120	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112786120G>A	uc002thk.1	+	18	2801	c.2679G>A	c.(2677-2679)ctG>ctA	p.L893L	MERTK_uc002thl.1_Silent_p.L717L	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	893					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTGCTCCACTGGACTTGAACA	0.542000														101			12		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831327	89831328	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89831327_89831328GG>AA	uc002fou.1	-	27	2790_2791	c.2748_2749CC>TT	c.(2746-2751)ttccga>ttTTga	p.R917*	FANCA_uc010vpn.1_Nonsense_Mutation_p.R917*|FANCA_uc010vpo.2_Nonsense_Mutation_p.R46*	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	917					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)		AACACCTCTCGGAAGGTTCTGT	0.550000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					68			5		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97464958	97464958	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:97464958C>T	uc002swx.3	+	3	1944	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	CNNM4_uc010yuy.2_Silent_p.L103L	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	616					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CATCCTCATCCTGCAGGTGAG	0.597000														77			8		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7681415	7681415	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7681415C>T	uc002giu.1	+	32	5282	c.5268C>T	c.(5266-5268)atC>atT	p.I1756I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1756	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTGTGTCATCCGCCAGACCA	0.532000														49			5		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306549	3306549	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3306549C>T	uc002cun.1	-	0	79	c.39G>A	c.(37-39)ctG>ctA	p.L13L	MEFV_uc021tbw.1_Silent_p.L13L|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	13	DAPIN.				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)	CCAGCTCCTCCAGGGTGGACA	0.567000														149			9		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208816	13208816	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:13208816C>T	uc001rbi.3	+	1	392	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	123						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTGTGCTTTCCTGATCCCCT	0.577000														36			4		0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797893	31797893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31797893C>T	uc002yob.1	-	0	338	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	113						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTCCTGGATCCACAGCTCAG	0.502000														16			5		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888565	38888565	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38888565G>A	uc021wvy.1	-	25	5195	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1666					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)	ACTAGAAATTGATATTTATTT	0.463000														16			4		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33060542	33060542	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:33060542G>T	uc003zsf.1	-	5	779	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	SMU1_uc011lnu.1_Missense_Mutation_p.P63Q	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	224						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTGACCATCTGGAGAAAATCG	0.348000														23			3		1	1	1	1	0
TMCC1	23023	broad.mit.edu	37	3	129389268	129389268	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129389268G>A	uc021xdy.1	-	3	1850	c.1416C>T	c.(1414-1416)acC>acT	p.T472T	TMCC1_uc003emy.4_Silent_p.T148T|TMCC1_uc011blc.2_Silent_p.T293T|TMCC1_uc010htg.3_Silent_p.T358T	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	472						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GTCTGGCCTGGGTTTCCCGGA	0.478000														66			4		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315605	73315605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73315605G>A	uc002siu.4	-	2	1382	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	RAB11FIP5_uc002sit.4_Missense_Mutation_p.R303C	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	381					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCTGTGGAACGAGGCCCCTCC	0.637000														61			13		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59945296	59945296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:59945296G>A	uc002izn.3	-	23	3419	c.3343C>T	c.(3343-3345)Cct>Tct	p.P1115S	INTS2_uc002izm.3_Missense_Mutation_p.P1107S	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1115					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TACAATGGAGGAAATGCTCGA	0.378000														44			5		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74991854	74991854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74991854C>T	uc001xqa.3	-	14	2890	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	835					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACCAGCACATCAGTGGAGGGG	0.597000														82			12		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177913747	177913747	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:177913747G>A	uc001glj.1	-	19	2699	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	SEC16B_uc001glk.1_Silent_p.F287F|SEC16B_uc009wwy.1_Silent_p.F165F|SEC16B_uc001glh.1_Silent_p.F269F|SEC16B_uc001gli.1_Silent_p.F610F|SEC16B_uc009wwz.1_Silent_p.F269F	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	610					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GACAGTACTCGAAGATTTCCG	0.493000														144			14		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475373	33475373	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:33475373C>T	uc001iwx.4	-	13	2629	c.2106G>A	c.(2104-2106)aaG>aaA	p.K702K	NRP1_uc001iwv.4_Silent_p.K702K|NRP1_uc001iwy.4_Silent_p.K695K|NRP1_uc009xlz.3_Silent_p.K696K|NRP1_uc001iww.4_Silent_p.K514K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	702	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCACTTTGCCCTTCTGATTTT	0.512000														38			9		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179745923	179745923	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:179745923G>A	uc003mlw.1	-	9	926	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	276	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CGTCCTCCAGGAAGATGACCC	0.597000														35			7		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927230	53927230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53927230C>T	uc001cvq.1	+	1	717	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	221	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TGCCCGTTCCCGCTGGGCTAC	0.662000														86			6		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86453318	86453318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:86453318C>T	uc001dlj.3	-	19	2405	c.2330G>A	c.(2329-2331)gGg>gAg	p.G777E	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.G77E|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	777	Collagen-like 4.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCAGGAATCCCAATATCTCC	0.348000														8			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056445	9056445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9056445G>A	uc002mkp.3	-	2	31205	c.31001C>T	c.(31000-31002)tCt>tTt	p.S10334F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10336	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						GAAGGTTGAAGAGGAGAATGG	0.517000														17			5		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22078983	22078983	+	Silent	SNP	G	A	A	rs143500575	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22078983G>A	uc003xbk.4	-	5	1570	c.876C>T	c.(874-876)gtC>gtT	p.V292V	PHYHIP_uc003xbj.4_Silent_p.V292V	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	292								p.V292I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGGACAGGTCGACGGGCTCAG	0.602000														120			7		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241958551	241958551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:241958551G>A	uc001hzg.2	+	24	3217	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	WDR64_uc021plh.1_Missense_Mutation_p.E631K|WDR64_uc021pli.1_Missense_Mutation_p.E557K	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1004										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGAAAACAGAGAGGCAGGGAT	0.433000														43			7		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23345488	23345488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23345488C>T	uc001whd.3	+	4	1884	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	LRP10_uc001whe.3_Missense_Mutation_p.A320V	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	444					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GTCATTACAGCTGCAGTCATT	0.602000														91			5		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328235	48328235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:48328235C>T	uc010rhu.2	+	0	461	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCCTGCATTCCATCCTGCAG	0.557000														53			8		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921556	12921556	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12921556G>A	uc001aum.1	+	3	1434	c.1347G>A	c.(1345-1347)agG>agA	p.R449R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	449										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)		AGCCCAAGAGGATCTTCATTG	0.557000														132			13		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145727	25145727	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25145727C>T	uc003abd.1	-	9	1566	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*	PIWIL3_uc011ajx.1_Nonsense_Mutation_p.W274*|PIWIL3_uc010gut.1_Nonsense_Mutation_p.W383*|PIWIL3_uc011ajy.1_Nonsense_Mutation_p.W274*	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	383	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGCCCTTTTTCCATCTGCCCT	0.468000														25			5		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286542	71286542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:71286542G>A	uc001swi.2	-	1	688	c.274C>T	c.(274-276)Ccg>Tcg	p.P92S		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	92					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P92Q(1)|p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGAGAGACGGGTCATATGCG	0.433000														28			3		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46176122	46176122	+	Silent	SNP	C	T	T	rs148407413		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46176122C>T	uc002pcu.1	+	4	393	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GIPR_uc002pct.1_Silent_p.F98F|GIPR_uc010xxp.1_Silent_p.F62F|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642A_uc021uvx.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	98					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTGCAGGTTTCGTCCTCCGCC	0.478000														45			7		0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150033974	150033974	+	Silent	SNP	G	A	A	rs138665596	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150033974G>A	uc003wgz.4	+	0	24	c.24G>A	c.(22-24)ccG>ccA	p.P8P	LRRC61_uc003wgv.3_Silent_p.P8P|LRRC61_uc003wgx.3_Silent_p.P8P|LRRC61_uc003wgw.3_Silent_p.P8P	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	8										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGAGAAGCCGGGAGAGGCTG	0.637000														61			4		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64879230	64879230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64879230C>T	uc001xhb.3	+	3	614	c.227C>T	c.(226-228)aCc>aTc	p.T76I	MTHFD1_uc010aqe.2_Missense_Mutation_p.T112I|MTHFD1_uc010aqf.3_Missense_Mutation_p.T132I	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	76	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCAAGAACAACCACAGAATCT	0.423000														34			7		0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47843341	47843341	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:47843341C>T	uc001ngm.3	-	8	1297	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.T404T|Y_RNA_uc021qiv.1_5'Flank	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	404					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCCAGATATCCGTGGAAGTTA	0.413000														60			9		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72347041	72347041	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72347041G>A	uc002jkm.4	+	11	1722	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	KIF19_uc002jkj.2_Silent_p.Q528Q|KIF19_uc002jkk.2_Silent_p.Q486Q|KIF19_uc002jkl.2_Silent_p.Q486Q	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	528					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGCGCAAGCAGAAGGTGTCCA	0.642000														94			16		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081266	194081266	+	Silent	SNP	G	A	A	rs149184445		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194081266G>A	uc003ftt.3	-	2	650	c.525C>T	c.(523-525)ttC>ttT	p.F175F	LRRC15_uc003ftu.3_Silent_p.F169F|LRRC15_uc021xiy.1_Silent_p.F169F	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	169						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CCAGGTGGTCGAAGGCTCCGT	0.592000														195			10		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	654586	654586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:654586G>A	uc001qii.1	+	5	590	c.590G>A	c.(589-591)aGc>aAc	p.S197N	B4GALNT3_uc001qij.1_Missense_Mutation_p.S99N	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	197						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCTGGCTGAGCCTCGATGAC	0.602000														35			8		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44892688	44892688	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:44892688G>A	uc001ztx.3	-	20	3694	c.3663C>T	c.(3661-3663)atC>atT	p.I1221I	SPG11_uc010ueh.2_Silent_p.I1221I|SPG11_uc010uei.2_Silent_p.I1221I|SPG11_uc001zty.1_5'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1221					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTGCTCTTGATTAATTCCT	0.388000														113			7		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765700	66765700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:66765700G>A	uc004dwu.2	+	0	1827	c.712G>A	c.(712-714)Gag>Aag	p.E238K	AR_uc011mpd.2_Missense_Mutation_p.E238K|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.E238K|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.E238K	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	236	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAACGCCAAGGAGTTGTGTAA	0.612000									Androgen Insensitivity Syndrome					20			6		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170468	77170468	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:77170468C>T	uc010xfg.2	+	1	646	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	NFATC1_uc002lnc.1_Silent_p.L65L|NFATC1_uc010xff.1_Silent_p.L65L|NFATC1_uc002lnd.3_Silent_p.L65L|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Silent_p.L65L|NFATC1_uc010xfi.1_Silent_p.L52L|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Silent_p.L52L|NFATC1_uc002lng.3_Silent_p.L52L|NFATC1_uc010xfk.2_Silent_p.L52L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	65					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCACTCCACCCTGCCGGCCCC	0.657000														98			9		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34112369	34112369	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34112369G>A	uc001bxm.1	-	28	4830	c.4653C>T	c.(4651-4653)ctC>ctT	p.L1551L	CSMD2_uc001bxn.1_Silent_p.L1511L|CSMD2_uc001bxo.1_Silent_p.L424L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1511	CUB 9.					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)				AGCTTCCTATGAGAGGGCTGA	0.567000														18			8		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4043411	4043411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4043411G>A	uc002cvx.3	-	3	2524	c.1985C>T	c.(1984-1986)aCc>aTc	p.T662I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	662					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 plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTTACCTTGGTGCTGTTTTT	0.532000														50			6		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995588	139995588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139995588C>T	uc004cld.2	+	6	1083	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F	MAN1B1_uc004clc.2_Missense_Mutation_p.L251F|MAN1B1_uc011meo.1_Missense_Mutation_p.L251F|MAN1B1_uc011mep.2_Missense_Mutation_p.L350F|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	350					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TGGGGACAGCCTCTTCCTGAG	0.552000														58			5		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15780091	15780091	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15780091C>T	uc003gol.1	+	0	161	c.54C>T	c.(52-54)ctC>ctT	p.L18L	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	18					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCTGCCGGCTCTCTAGGAGAG	0.667000														94			16		0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481759	27481759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27481759G>A	uc002rjk.3	-	1	325	c.139C>T	c.(139-141)Cct>Tct	p.P47S	SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Missense_Mutation_p.P42S	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	47					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCACAGGTTTGGACTCC	0.637000														46			21		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685344	125685344	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125685344G>A	uc022cds.1	-	0	1248	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	DCAF12L1_uc004eul.3_Silent_p.F416F	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	416										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AATTCACCCAGAAATCATTGT	0.567000														72			8		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362472	9362472	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9362472G>A	uc002mlb.1	+	0	753	c.753G>A	c.(751-753)ggG>ggA	p.G251G		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATCAGATGGGAAGTATAAAG	0.443000														8			3		0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97329621	97329621	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:97329621C>T	uc004auv.3	-	4	703	c.636G>A	c.(634-636)ctG>ctA	p.L212L	BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	212					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				AGCCCTCATTCAGGCTGTAAA	0.448000														91			15		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492070	9492070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9492070C>T	uc021uon.1	+	5	1224	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	ZNF177_uc002mli.3_Missense_Mutation_p.L195F|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Missense_Mutation_p.L195F	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	195					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCCTTCATCCCTTCAGAAACA	0.458000														29			11		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504765	113504765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:113504765C>T	uc003ynu.3	-	30	5390	c.5231G>A	c.(5230-5232)gGa>gAa	p.G1744E	CSMD3_uc003yns.3_Missense_Mutation_p.G1016E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1704E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1640E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1744	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATCATCTCCCATGATACA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				39			4		0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222867	45222867	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45222867C>T	uc003tnb.3	+	2	364	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	101					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GGCAGTTCTTCTCCAACTGCA	0.607000														93			21		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946068	50946068	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50946068G>A	uc009xog.3	-	17	2557	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	OGDHL_uc001jie.3_Silent_p.I814I|OGDHL_uc010qgt.2_Silent_p.I757I|OGDHL_uc010qgu.2_Silent_p.I605I	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	814					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTTGACCACGATCCAGTTGC	0.622000														210			8		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673660	151673660	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:151673660G>A	uc011eep.2	+	3	4374	c.4134G>A	c.(4132-4134)gtG>gtA	p.V1378V	AKAP12_uc003qoe.3_Silent_p.V1378V|AKAP12_uc003qof.3_Silent_p.V1280V|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.V1273V	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1378					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)		TCCAGACAGTGAATGTGCCCA	0.498000														38			7		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173879315	173879315	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:173879315G>A	uc002uhv.4	+	17	1969	c.1782G>A	c.(1780-1782)gaG>gaA	p.E594E	RAPGEF4_uc002uhw.4_Silent_p.E450E	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	594	N-terminal Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCCTGCAAGAGGATGACGTGT	0.502000														31			4		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283652	159283652	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159283652C>T	uc010piu.2	-	0	798	c.798G>A	c.(796-798)caG>caA	p.Q266Q		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCAGGGAACTCTGGGACTTAG	0.527000														12			4		0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518338	84518338	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:84518338G>A	uc010ffz.1	+	0	533	c.396G>A	c.(394-396)aaG>aaA	p.K132K						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		CATTTGTGAAGAAAAATGTTC	0.448000														59			6		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862727	55862727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:55862727G>A	uc002eim.3	-	1	317	c.209C>T	c.(208-210)cCt>cTt	p.P70L	CES1_uc002eil.3_Missense_Mutation_p.P71L|CES1_uc002ein.3_Missense_Mutation_p.P70L	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	70					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TGGTTCTGCAGGCTGCGGTGG	0.527000														107			6		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170176145	170176145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:170176145C>T	uc003qxg.1	+	14	1537	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	C6orf70_uc011ehb.1_Missense_Mutation_p.R376C|C6orf70_uc003qxh.1_Missense_Mutation_p.R502C|C6orf70_uc010kky.1_Missense_Mutation_p.R376C|C6orf70_uc003qxi.1_Missense_Mutation_p.R150C	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	502						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GGACTTGGATCGTCTTCCTAC	0.388000														53			5		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744272	17744272	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:17744272C>T	uc011mix.2	+	6	2384	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	NHS_uc004cxx.3_Silent_p.F661F|NHS_uc004cxy.3_Silent_p.F505F|NHS_uc004cxz.3_Silent_p.F484F|NHS_uc004cya.3_Silent_p.F384F	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	661						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCAGTGTTTTCGTGACAGAGC	0.512000														60			16		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541018	72541018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72541018G>A	uc002jky.1	-	1	491	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R44C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTCATAGCGACACTGCACA	0.532000														64			10		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89015796	89015796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:89015796C>T	uc003hrg.3	-	14	2246	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	ABCG2_uc003hrh.3_Missense_Mutation_p.M581I|ABCG2_uc003hrf.3_Missense_Mutation_p.E453K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	585	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCCAAAAATTCATTATGCTGC	0.388000														21			12		0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13762615	13762615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:13762615C>T	uc004cvp.4	+	5	853	c.494C>T	c.(493-495)tCg>tTg	p.S165L	OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_Missense_Mutation_p.S25L|OFD1_uc010nen.3_Missense_Mutation_p.S164L|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.S164L|OFD1_uc004cvv.4_Missense_Mutation_p.S164L|OFD1_uc010neo.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	165					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.S165L(3)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CAGACAAGTTCGACATTTAAC	0.299000														10			3		0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527686	3527686	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3527686C>T	uc010dtk.2	+	5	562	c.528C>T	c.(526-528)ttC>ttT	p.F176F	FZR1_uc002lxt.2_Silent_p.F176F|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	176					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCCCCTTCAAGGTGCTGG	0.642000														21			8		0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19209754	19209755	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:19209754_19209755CC>TT	uc001mpk.2	-	2	326_327	c.209_210GG>AA	c.(208-210)ggg>gAA	p.G70E		NM_003476	NP_003467	P50461	CSRP3_HUMAN	Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA.	70	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	p.G70E(2)		kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						CATACCCGATCCCTTTGGGGCC	0.604000														95			10		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41052574	41052574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:41052574C>T	uc003jmj.4	-	11	1713	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	408							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TACCAGATTCCTGTTCAACGT	0.388000														37			8		0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12984110	12984110	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:12984110C>T	uc002krq.3	+	7	1129	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	SEH1L_uc002krr.3_Nonsense_Mutation_p.Q331*	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	331					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TGGGAGTTCTCAGCAGGGAAC	0.398000														53			5		0	0	1	0	0
PXDC1	221749	broad.mit.edu	37	6	3737388	3737388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:3737388G>A	uc003mvt.2	-	2	872	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	Homo sapiens PX domain containing 1 (PXDC1), mRNA.	131	PX.				cell communication		phosphatidylinositol binding										TGATCCAGAGGAGATCTTTCG	0.433000														88			8		0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55510906	55510906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:55510906C>T	uc021rti.1	+	0	1147	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SOCS4_uc001xbo.3_Missense_Mutation_p.R383W|SOCS4_uc001xbp.3_Missense_Mutation_p.R383W	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	383	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TCCCTTAATTCGGACTTTCCC	0.423000														55			7		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623218	33623218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33623218C>T	uc002nui.3	+	0	221	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	48										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTCAAGCTGTCGATCCCGCAC	0.657000														110			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791255	106791255	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106791255C>T	uc021ser.1	-	619		c.17137G>A								Parts of antibodies, mostly variable regions.																		CAGGGACCTCCCAGGCTGGAC	0.592000														99			5		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080268	10080268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10080268C>T	uc002mmq.1	-	55	4167	c.4081G>A	c.(4081-4083)Ggg>Agg	p.G1361R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1361	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			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)			CCAGGGATCCCTCGAAGACCC	0.662000														21			3		0	0	1	0	0
PKIG	11142	broad.mit.edu	37	20	43243233	43243233	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43243233C>T	uc002xmg.3	+	4	565	c.36C>T	c.(34-36)atC>atT	p.I12I	PKIG_uc002xmh.3_Silent_p.I12I|PKIG_uc002xmi.3_Silent_p.I12I	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor gamma (PKIG), transcript variant 1, mRNA.	12							cAMP-dependent protein kinase inhibitor activity|protein binding	p.I12I(2)		breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGGACTTCATCTCCTGTGACC	0.617000														85			7		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669722	119669722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:119669722C>T	uc003pym.1	-	1	951	c.509G>A	c.(508-510)gGc>gAc	p.G170D	MAN1A1_uc010kei.2_Missense_Mutation_p.G170D	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	170					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CGGGGGCAGGCCTCTGAACGG	0.632000														75			4		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227500	38227500	+	Missense_Mutation	SNP	G	T	T	rs45567442		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38227500G>T	uc009vvi.3	-	2	513	c.427C>A	c.(427-429)Cgc>Agc	p.R143S	EPHA10_uc001cbw.4_Missense_Mutation_p.R143S	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	143						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCTAGGCGGGGACGCCCA	0.657000														77			5		1	1	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134072794	134072794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:134072794G>A	uc001qhd.1	-	12	2138	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	511					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTTTGGTAGGAAAAAGCTTT	0.353000														39			4		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417929	150417929	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150417929C>T	uc003whq.3	+	2	977	c.837C>T	c.(835-837)gcC>gcT	p.A279A	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGGGCCTGGCCCTGCTGCTGG	0.711000														19			4		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637241	60637241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60637241G>A	uc001nqd.3	+	2	570	c.550G>A	c.(550-552)Gac>Aac	p.D184N	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	184					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCCCACTGGACCCAGGGCA	0.627000														25			4		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21534491	21534491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21534491C>T	uc002kuq.3	+	74	9967	c.9881C>T	c.(9880-9882)cCt>cTt	p.P3294L	LAMA3_uc002kur.3_Missense_Mutation_p.P3238L|LAMA3_uc002kus.4_Missense_Mutation_p.P1685L|LAMA3_uc002kut.4_Missense_Mutation_p.P1629L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3294	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGAGGATCCCTGTGTGGAAA	0.453000														29			7		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30684753	30684753	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30684753G>A	uc003ahd.3	-	1	256	c.126C>T	c.(124-126)ttC>ttT	p.F42F	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_Intron|TBC1D10A_uc010gvs.2_Intron	NM_001037666	NP_001032755	Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCGTCAGGCTGAAGAACTTGC	0.597000														29			5		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592920	2592920	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2592920C>A	uc002wgf.1	+	12	1692	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V	TMC2_uc002wgg.1_Silent_p.V543V|TMC2_uc010zpw.1_Silent_p.V391V|TMC2_uc010zpx.1_Silent_p.V390V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	559						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACGAGAGTGTCCCCCGACCAC	0.493000														47			6		8.12818e-05	8.21453e-05	1	1	0
MICALL2	79778	broad.mit.edu	37	7	1481952	1481952	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1481952G>A	uc003skj.4	-	6	1734	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	MICALL2_uc003ski.4_Silent_p.S16S	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	529						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGGCAACGCGGATGCCTGAG	0.672000														119			10		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349276	55349276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55349276C>T	uc002qhm.1	+	2	362	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	KIR3DL2_uc010yfj.2_Missense_Mutation_p.H99Y|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.H106Y|KIR3DL2_uc002qhn.1_Missense_Mutation_p.H53Y	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	201					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCTGTTCCTCACTCCCCCTA	0.512000														271			38		0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482133	54482133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:54482133C>T	uc002rxr.2	-	0	1277	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	386					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTATGGGCGTCTTCACCCAAC	0.517000														69			5		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323007	79323007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:79323007C>T	uc010mpk.3	-	7	4307	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	PRUNE2_uc022bih.1_Missense_Mutation_p.E1217K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1395					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGGTTCCTCGGTTTGAGGA	0.463000														20			6		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101693824	101693824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101693824G>A	uc001tia.1	+	13	1816	c.1660G>A	c.(1660-1662)Gga>Aga	p.G554R		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	554					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						TGTTGACAAAGGAAGCTTTGG	0.418000														101			5		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228060	3228060	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3228060C>T	uc004crg.4	-	6	8341	c.8184G>A	c.(8182-8184)gtG>gtA	p.V2728V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2728						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)				GATAGGCGATCACAATCACGG	0.607000														20			4		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144398199	144398199	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144398199G>A	uc003yxz.3	-	10	1447	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	TOP1MT_uc011lkd.2_Silent_p.F378F|TOP1MT_uc011lke.2_Silent_p.F378F|TOP1MT_uc011lkf.2_Silent_p.F271F	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	476					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCGACTTCTCGAACGTACTGG	0.607000														87			20		0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930713	122930713	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122930713G>A	uc001pyo.3	-	4	723	c.588C>T	c.(586-588)ctC>ctT	p.L196L	HSPA8_uc009zbc.3_5'UTR|HSPA8_uc001pyp.3_Silent_p.L196L|HSPA8_uc010rzu.2_Silent_p.L119L|HSPA8_uc009zbd.2_Silent_p.L196L|HSPA8_uc010rzv.1_3'UTR	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	196	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.L196L(2)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCAAAGATGAGCACGTTTC	0.408000														36			5		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117808905	117808906	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:117808905_117808906GG>AA	uc004bjj.4	-	16	5320_5321	c.4908_4909CC>TT	c.(4906-4911)ttccgt>ttTTgt	p.R1637C	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.R1274C	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1637	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGACAGACGGAAACCGTCTG	0.480000														18			3		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23696305	23696305	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:23696305G>A	uc001rfw.3	-	12	1713	c.1611C>T	c.(1609-1611)gtC>gtT	p.V537V	SOX5_uc001rfx.3_Silent_p.V524V|SOX5_uc001rfy.3_Silent_p.V416V|SOX5_uc001rfv.3_Silent_p.V151V|SOX5_uc010siv.2_Silent_p.V524V|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Silent_p.V489V	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	537					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTGACTCTGAGACTCCAGCAC	0.423000														67			5		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427937	197427937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:197427937C>T	uc003fyc.2	-	6	991	c.808G>A	c.(808-810)Gat>Aat	p.D270N	KIAA0226_uc003fyd.3_Missense_Mutation_p.D210N|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.3_Missense_Mutation_p.D103N|KIAA0226_uc003fyg.3_Missense_Mutation_p.D263N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	270	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATGGTTTGATCCTCTGCTGGT	0.512000														62			15		0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123753	135123753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135123753C>T	uc021qbf.1	+	2	362	c.320C>T	c.(319-321)cCc>cTc	p.P107L	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Missense_Mutation_p.P172L|ZNF511_uc001lml.1_Missense_Mutation_p.P172L	NM_145806	NP_665805	Q8NB15	ZN511_HUMAN	Homo sapiens zinc finger protein 511 (ZNF511), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CACCTGTACCCCGCGGACTTC	0.507000														73			16		0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51971732	51971732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:51971732G>A	uc003dbw.1	-	3	340	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	101	Glu-rich.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	p.R101S(2)		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)		TCAAATGCACGGGCCTCAGCC	0.622000														109			9		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000440	219000440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219000440C>T	uc002vgz.2	+	3	1126	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	CXCR2_uc002vha.2_Missense_Mutation_p.H306Y|CXCR2_uc002vhb.2_Missense_Mutation_p.H306Y|CXCR2_uc021vwp.1_Missense_Mutation_p.H306Y	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	306					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGGCATCCTTCACAGCTGCCT	0.562000														96			15		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585248	1585248	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1585248C>T	uc022brv.1	-	0	204	c.204G>A	c.(202-204)acG>acA	p.T68T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.T68T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	68						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCATCAGGTCCGTGACGCTCA	0.602000			T	CRLF2	"""B-ALL, Downs associated ALL"""									73			5		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14746042	14746042	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:14746042C>T	uc003byy.3	+	6	1529	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	C3orf20_uc003byz.3_Silent_p.F237F|C3orf20_uc003bza.3_Silent_p.F237F|C3orf20_uc003byx.2_Nonsense_Mutation_p.Q311*	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	359						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCATCATTTCAGTCAGCATT	0.498000														179			18		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349785	90349785	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90349785G>A	uc002bop.4	-	1	322	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	10					angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGATGCCCAGGGACTTGGAAA	0.612000														27			16		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9085128	9085128	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9085128G>A	uc009vmo.1	-	1	57	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	19						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.R18W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTCGGCTGGAGCCGCTGTA	0.652000														31			7		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542672	14542672	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:14542672G>C	uc010dln.3	-	0	928	c.474C>G	c.(472-474)atC>atG	p.I158M	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	158										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATGACGATGAGATCCT	0.582000														126			18		0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827768	79827768	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79827768C>T	uc021uff.1	-	1	345	c.39G>A	c.(37-39)caG>caA	p.Q13Q	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Silent_p.Q13Q|ARHGDIA_uc021ufg.1_Silent_p.Q13Q|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	13					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCGCTGCAATCTGGGCCAGCT	0.632000														53			6		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710878	14710878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14710878C>T	uc010dzn.2	+	11	855	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	CLEC17A_uc010dzo.2_Missense_Mutation_p.P260S|CLEC17A_uc002mzh.2_Missense_Mutation_p.P243S|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	260						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AGGCTGGCTGCCCTTTGAGGG	0.527000														36			9		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769151	88769151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88769151G>A	uc001kee.2	+	11	2346	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	381	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCCCGTGTGCGATCTCTGGAG	0.537000														243			16		0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150690264	150690264	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150690264G>C	uc003qnx.2	+	0	237	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	IYD_uc003qnv.2_Missense_Mutation_p.E33Q|IYD_uc003qnu.2_Missense_Mutation_p.E33Q|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_5'UTR	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	33					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AAAGAAGGGGGAGCCTAGAAC	0.493000														108			6		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202196	6202196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6202196G>A	uc001amb.2	-	14	2539	c.2428C>T	c.(2428-2430)Cgt>Tgt	p.R810C	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.	810	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)		ACCTTCATACGGAATACCTTC	0.592000														143			39		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750006	234750006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234750006G>A	uc002vvg.3	-	7	1486	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	HJURP_uc010znd.2_Missense_Mutation_p.P413S|HJURP_uc010zne.2_Missense_Mutation_p.P382S	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	474					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AGGCCACCAGGACTCGCAGGA	0.537000														72			4		0	0	1	0	0
EIF2C4	192670	broad.mit.edu	37	1	36282515	36282515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36282515C>T	uc001bzj.2	+	1	242	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	18					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding	p.R17H(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCACCTCGTCGTCCTGGCCT	0.378000														104			22		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190803	104190803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104190803G>A	uc010swe.1	-	5	663	c.622C>T	c.(622-624)Cat>Tat	p.H208Y		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	208							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTGTTTCCATGAGAGCTCTGC	0.527000														36			11		0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940017	64940017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64940017G>A	uc010rnz.2	+	4	457	c.457G>A	c.(457-459)Gat>Aat	p.D153N		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	153	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCACCAGAGGGATAAGCTTTG	0.592000														79			6		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32834595	32834595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:32834595G>A	uc004dda.1	-	5	764	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	DMD_uc004dcz.2_Missense_Mutation_p.H51Y|DMD_uc004dcy.1_Missense_Mutation_p.H170Y|DMD_uc004ddb.1_Missense_Mutation_p.H166Y|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.H166Y|DMD_uc010ngp.1_Missense_Mutation_p.H51Y|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	174	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTATGACTATGGATGAGAGCA	0.408000														23			5		0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55058509	55058509	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:55058509A>T	uc002iuv.4	+	1	196	c.143A>T	c.(142-144)gAt>gTt	p.D48V	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_5'UTR	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	48					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCCGCAAGGATGCCTACATG	0.502000														34			5		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85097741	85097741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85097741G>A	uc010ysl.2	-	1	366	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	C2orf89_uc002sou.4_Missense_Mutation_p.P93S|C2orf89_uc010fgc.2_Missense_Mutation_p.P93S	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	93						integral to membrane		p.D92E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						ATGGTATAGGGGTCTGTGAGA	0.557000														15			3		0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136265581	136265581	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136265581G>A	uc004cdk.3	+	11	1183	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	374							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGGTCACGACCATGGAGC	0.652000														56			6		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884937	24884937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24884937G>A	uc001wpf.4	+	8	4300	c.3982G>A	c.(3982-3984)Ggt>Agt	p.G1328S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1328					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCTGGCTTTGGTCTCTATGT	0.597000														227			23		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90427414	90427414	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90427414C>A	uc001kfg.2	+	2	308	c.194C>A	c.(193-195)cCt>cAt	p.P65H	LIPF_uc009xtk.3_Missense_Mutation_p.P65H|LIPF_uc001kfh.2_Missense_Mutation_p.P75H|LIPF_uc010qmt.2_Missense_Mutation_p.P75H|LIPF_uc010qmu.2_Missense_Mutation_p.P65H	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	65					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AATAGAATTCCTTATGGGAAG	0.353000														57			7		0.0381472	0.0383905	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144942907	144942907	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144942907G>A	uc003zaa.1	-	0	4528	c.4515C>T	c.(4513-4515)gtC>gtT	p.V1505V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1505						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)			CCAGGGTGGTGACTGCGCTGA	0.677000														6			3		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24331359	24331359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:24331359C>T	uc011mjw.2	-	0	74	c.74G>A	c.(73-75)aGa>aAa	p.R25K		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	25										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						GTATCTCCTTCTAGGACGTCT	0.443000														53			8		0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793446	242793446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242793446C>T	uc002wcq.4	-	4	699	c.631G>A	c.(631-633)Gag>Aag	p.E211K	PDCD1_uc010fzs.3_Missense_Mutation_p.E90K|PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	211					T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GAGGGGTCCTCCTTCTTTGAG	0.657000														35			7		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562801	179562801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179562801C>T	uc010pnp.2	+	2	957	c.439C>T	c.(439-441)Cct>Tct	p.P147S	TDRD5_uc021pfm.1_Missense_Mutation_p.P147S|TDRD5_uc001gnf.2_Missense_Mutation_p.P147S|TDRD5_uc021pfn.1_Missense_Mutation_p.P147S	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	147	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGCGTTATCTCCTGTTCTTCT	0.433000														87			8		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100612548	100612548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100612548G>A	uc010nno.2	-	12	1461	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc004ehg.2_Missense_Mutation_p.P376S|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Non-coding_Transcript|BTK_uc004ehi.3_Missense_Mutation_p.P376S	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	376	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGAGACACTGGATATTTGAGC	0.498000									Agammaglobulinemia, X-linked					27			6		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31376724	31376724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31376724C>T	uc002wyc.3	+	6	1040	c.719C>T	c.(718-720)cCc>cTc	p.P240L	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.P240L|DNMT3B_uc002wye.3_Missense_Mutation_p.P240L|DNMT3B_uc010ztz.2_Missense_Mutation_p.P198L|DNMT3B_uc010zua.2_Missense_Mutation_p.P164L|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.P252L|DNMT3B_uc002wyg.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	240	Interaction with DNMT1 and DNMT3A.|PWWP.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGTGGCCCGCCATGGTG	0.567000														63			16		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845802	123845802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123845802G>A	uc001lfv.3	+	3	4147	c.3787G>A	c.(3787-3789)Gct>Act	p.A1263T	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A1263T|TACC2_uc010qtv.2_Missense_Mutation_p.A1263T	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1263						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGACCCCAGAGCTCCTGGCGA	0.597000														61			7		0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461929	4461929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4461929G>A	uc010vsc.2	-	3	941	c.881C>T	c.(880-882)tCg>tTg	p.S294L	GGT6_uc010vsb.2_Missense_Mutation_p.S140L|GGT6_uc002fyd.4_Missense_Mutation_p.S288L|GGT6_uc002fyc.4_Missense_Mutation_p.S256L	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	288					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGGCACAGCCGAGGGCACCTC	0.657000														25			4		0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316665	203316665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203316665G>A	uc001gzr.3	-	1	870	c.734C>T	c.(733-735)gCt>gTt	p.A245V		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	245					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGCTCAAGAGCTGAGGGCAG	0.582000														101			7		0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367222	3367222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3367222C>T	uc002cut.4	+	5	770	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAAAATCATCAGCCTGTGTC	0.373000														57			11		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112437071	112437071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:112437071C>T	uc003pvu.2	-	35	5416	c.5107G>A	c.(5107-5109)Gga>Aga	p.G1703R	LAMA4_uc003pvv.2_Missense_Mutation_p.G1696R|LAMA4_uc003pvt.2_Missense_Mutation_p.G1696R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1703	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTACCTGTCCATTTTTCATG	0.398000														18			3		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58098016	58098016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58098016C>T	uc003djj.2	+	17	2881	c.2716C>T	c.(2716-2718)Cac>Tac	p.H906Y	FLNB_uc010hne.2_Missense_Mutation_p.H906Y|FLNB_uc003djk.2_Missense_Mutation_p.H906Y|FLNB_uc010hnf.2_Missense_Mutation_p.H906Y|FLNB_uc003djl.2_Missense_Mutation_p.H737Y|FLNB_uc003djm.2_Missense_Mutation_p.H737Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	906					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGACTACTCTCACACGGTTAA	0.557000														86			10		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345538	235345538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:235345538G>A	uc021pks.1	-	19	3073	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	ARID4B_uc001hwq.3_Missense_Mutation_p.S899L|ARID4B_uc001hwr.3_Missense_Mutation_p.S813L|ARID4B_uc001hws.4_Missense_Mutation_p.S813L|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.S580L	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGCCACTTCTGAAAATCCTGA	0.353000														83			5		0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751328	46751328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46751328G>A	uc001cpn.3	-	3	1245	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	LRRC41_uc010omb.2_Missense_Mutation_p.R401C|LRRC41_uc001cpo.1_Missense_Mutation_p.R401C	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	401										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGACGGGTGCGAGCACCCTTC	0.552000														105			5		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458637	129458637	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:129458637C>T	uc011maa.2	+	7	1135	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	LMX1B_uc004bqi.3_Silent_p.F365F|LMX1B_uc004bqj.3_Silent_p.F372F	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	349					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGACTGCTTCCTCGGCTCCT	0.627000									Nail-Patella Syndrome					106			21		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65214781	65214781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:65214781G>A	uc010wqk.2	-	3	327	c.140C>T	c.(139-141)cCt>cTt	p.P47L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.P47L|HELZ_uc010des.1_Missense_Mutation_p.P47L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAATGGACAAGGCCCTGTGAA	0.458000														86			24		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598275	31598275	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31598275G>A	uc002rnv.1	-	14	1652	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	525					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCAGCTTCTGAAGGACTGTC	0.567000														104			44		0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407293	185407293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:185407293G>A	uc003fpo.3	-	5	606	c.527C>T	c.(526-528)tCc>tTc	p.S176F	IGF2BP2_uc010hyi.3_Missense_Mutation_p.S119F|IGF2BP2_uc010hyj.3_Missense_Mutation_p.S113F|IGF2BP2_uc010hyk.3_Missense_Mutation_p.S40F|IGF2BP2_uc010hyl.3_Missense_Mutation_p.S113F|IGF2BP2_uc003fpp.3_Missense_Mutation_p.S176F|IGF2BP2_uc003fpq.3_Missense_Mutation_p.S181F	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	176					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)			TTGCTCCCGGGAAGAGTGGTC	0.597000														228			21		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2833937	2833937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2833937C>T	uc002lwm.2	+	4	902	c.704C>T	c.(703-705)tCa>tTa	p.S235L	ZNF554_uc002lwl.2_Missense_Mutation_p.S184L	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGTTTTATCACAGGGAAGC	0.488000														88			19		0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62366600	62366600	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62366600C>T	uc002ygk.3	+	5	1330	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	ZGPAT_uc002ygi.2_Silent_p.L361L|ZGPAT_uc010gkk.2_5'UTR|ZGPAT_uc010gkl.2_Silent_p.L361L|ZGPAT_uc002ygm.3_Silent_p.L352L|ZGPAT_uc002ygj.2_Silent_p.L361L|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	381					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGTGGAGACCCTGCAGAAGCA	0.677000														26			4		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026277	43026277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43026277C>T	uc002otv.3	-	2	637	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Missense_Mutation_p.E168K|CEACAM1_uc002otw.3_Missense_Mutation_p.E168K|CEACAM1_uc002otx.3_Missense_Mutation_p.E168K|CEACAM1_uc002oty.3_Missense_Mutation_p.E168K|CEACAM1_uc002otz.3_Missense_Mutation_p.E168K|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.E168K|CEACAM1_uc002oub.3_Missense_Mutation_p.E168K|CEACAM1_uc002ouc.3_Missense_Mutation_p.E168K	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	168	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTCTCAGGTTCACAGGTGAAG	0.557000														180			16		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651681	75651681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75651681G>A	uc002bah.3	-	16	2064	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MAN2C1_uc010bkk.3_Silent_p.F579F|MAN2C1_uc002baf.3_Silent_p.F678F|MAN2C1_uc002bag.3_Silent_p.F678F			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	664					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTGCACTACGAACACAGGCT	0.622000														55			6		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11742594	11742594	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11742594C>T	uc002rbk.1	+	16	2892	c.2592C>T	c.(2590-2592)acC>acT	p.T864T	GREB1_uc002rbo.1_Silent_p.T498T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	864						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTGAATCCACCCTTTCAGGAC	0.443000														161			18		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365869	7365869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7365869G>A	uc002ghc.4	-	3	2682	c.2432C>T	c.(2431-2433)cCc>cTc	p.P811L	ZBTB4_uc002ghd.4_Missense_Mutation_p.P811L	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GACATCCCCGGGCCTGGTGCC	0.672000														62			7		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041402	234041402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:234041402G>A	uc001hvy.1	+	1	326	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane		p.V60L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCGCTCCGTGGAGGATCTCAC	0.637000														65			4		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48193050	48193050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48193050G>A	uc002iqf.3	-	6	999	c.700C>T	c.(700-702)Ccg>Tcg	p.P234S	SAMD14_uc002iqe.3_Missense_Mutation_p.P17S|SAMD14_uc002iqg.3_Missense_Mutation_p.P234S	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	234										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCAGGAACGGGGAGCCCCCT	0.642000														160			5		0	0	1	0	0
RAB4B	53916	broad.mit.edu	37	19	41289884	41289884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41289884C>T	uc002opd.2	+	4	491	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.P138S	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	112					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTGGCCAGCCCCAACATCGT	0.622000														42			7		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248975	141248975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:141248975G>A	uc003llp.3	-	1	179	c.62C>T	c.(61-63)cCc>cTc	p.P21L	PCDH1_uc011dbf.2_5'UTR|PCDH1_uc003llq.3_Missense_Mutation_p.P21L	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	21					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCATCCTGGGAGGCCCCAG	0.647000														27			4		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349074	100349074	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100349074G>A	uc003huv.2	-	4	697	c.456C>T	c.(454-456)ttC>ttT	p.F152F	ADH7_uc021xqj.1_Silent_p.F160F	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	152					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGGTGTTCATGAAGTGGTGGA	0.433000														12			3		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658311	72658311	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72658311C>A	uc003txs.1	-	12	1601	c.673G>T	c.(673-675)Gta>Tta	p.V225L	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gccacgcttactaatttcgac	0.522000														48			5		0.000602214	0.000607816	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2817587	2817587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2817587C>T	uc002crk.3	+	10	7607	c.7058C>T	c.(7057-7059)gCc>gTc	p.A2353V	SRRM2_uc002crj.1_Missense_Mutation_p.A2257V|SRRM2_uc002crl.1_Missense_Mutation_p.A2353V|SRRM2_uc010bsu.1_Missense_Mutation_p.A2257V	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2353	Ala-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						GTGAATATTGCCGGCTCCAGA	0.627000														115			11		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134648888	134648888	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134648888G>A	uc021qbc.1	-	46	6765	c.6664C>T	c.(6664-6666)Ctg>Ttg	p.L2222L		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	383										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGCCAGCAGGTGGGAGAAG	0.637000														61			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069981	9069981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9069981G>A	uc002mkp.3	-	2	17669	c.17465C>T	c.(17464-17466)tCc>tTc	p.S5822F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5824	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						TGTTCTGCTGGAAGTGATAAC	0.478000														33			5		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119320	38119320	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38119320C>T	uc003atr.3	+	6	1028	c.757C>T	c.(757-759)Cga>Tga	p.R253*	TRIOBP_uc003atu.3_Nonsense_Mutation_p.R81*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.R253*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.R81*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	253					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)					CAGTGGACCTCGAAGCACCAC	0.612000														19			4		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216373131C>A	uc001hku.1	-	16	4036	c.3649G>T	c.(3649-3651)Gat>Tat	p.D1217Y	USH2A_uc001hkv.3_Missense_Mutation_p.D1217Y	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(2)		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)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)				32			3		1	1	1	1	0
GLP1R	2740	broad.mit.edu	37	6	39040750	39040750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39040750G>A	uc003ooj.4	+	5	682	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	208					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GTATAGCACAGCCGCCCAGCA	0.597000														62			12		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236894533	236894533	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236894533G>A	uc001hyf.2	+	7	820	c.616_splice	c.e7-1	p.D206_splice	ACTN2_uc001hyg.2_Splice_Site|ACTN2_uc009xgi.1_Splice_Site_p.D206_splice|ACTN2_uc010pxu.1_Splice_Site	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	206	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTTCATACAGGATGACCCCAT	0.378000														44			4		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890227	24890227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:24890227G>A	uc001upj.3	+	1	147	c.86G>A	c.(85-87)gGa>gAa	p.G29E	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	29	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCACCCTGGAATCCCTGGG	0.557000														44			11		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093110	160093110	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160093110C>T	uc001fvc.3	+	3	417	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ATP1A2_uc001fvb.2_Silent_p.F95F|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCT	0.602000														191			27		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122676082	122676082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122676082G>A	uc009zxm.3	+	5	1082	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LRRC43_uc001ubw.4_Missense_Mutation_p.E168K|LRRC43_uc009zxn.3_Missense_Mutation_p.E114K	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	353	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGAAGAAGGCGAAATGAATGA	0.552000											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			9		0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	332476	332476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:332476G>A	uc002cgm.1	+	4	499	c.424G>A	c.(424-426)Gag>Aag	p.E142K	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'Flank|PDIA2_uc010bqt.1_5'Flank	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.	142					Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	p.E142K(2)		breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGTCCACAGGGAGATTGTCAG	0.716000														24			10		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197130	8197130	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:8197130C>T	uc003wsh.4	-	2	2178	c.2178G>A	c.(2176-2178)aaG>aaA	p.K726K		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	726							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAGAGCTGCTCTTGTTCATTT	0.473000														55			10		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39765950	39765950	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39765950C>T	uc021olt.1	+	20	2617	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	MACF1_uc021ols.1_Silent_p.I855I|MACF1_uc001cdc.2_Silent_p.I855I|MACF1_uc001cda.1_Silent_p.I763I|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	855					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)			CAAAAACCATCGTTCAGCTAA	0.433000														58			10		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48271366	48271366	+	Missense_Mutation	SNP	C	T	T	rs72648363		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48271366C>T	uc002iqm.3	-	24	1831	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	569	Triple-helical region.		G -> R (in OI2A).		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	p.G569G(1)	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)	CCAGGTGGGCCTGGGGGTCCG	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							67			5		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25897557	25897557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:25897557C>T	uc003xes.2	-	4	734	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.E157K	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	157					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CACATCACTTCGTGCGTCAGG	0.587000														122			24		0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38033466	38033466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:38033466G>A	uc004ddy.2	-	2	428	c.296C>T	c.(295-297)tCc>tTc	p.S99F	SRPX_uc011mki.2_Missense_Mutation_p.S99F|SRPX_uc004ddz.2_Missense_Mutation_p.S79F|SRPX_uc011mkh.2_Missense_Mutation_p.S99F	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	99	Sushi 1.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GATCAGTAGGGAAGAGCCATG	0.552000														32			5		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148990	125148990	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125148990C>T	uc004bmg.1	+	8	1410	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Silent_p.F316F|PTGS1_uc011lyt.1_Silent_p.F316F	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	425					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	TGGATGCCTTCTCTCGCCAGA	0.582000														44			5		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19049239	19049239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19049239G>A	uc002dfp.2	+	7	1179	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	TMC7_uc010vao.1_Silent_p.K344K|TMC7_uc002dfq.3_Missense_Mutation_p.R350K|TMC7_uc010vap.2_Missense_Mutation_p.R240K	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	350						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATAGCAGAAAGGACCTCAGAA	0.403000														38			6		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614415	148614415	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:148614415C>G	uc003ewm.3	+	10	1227	c.1175C>G	c.(1174-1176)tCc>tGc	p.S392C		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	392					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTCCAGAATCCCGGATAAAG	0.438000														41			3		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60348098	60348098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60348098C>T	uc002ybn.2	+	3	524	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	CDH4_uc002ybr.2_Missense_Mutation_p.P109S|CDH4_uc002ybp.2_Missense_Mutation_p.P72S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	146					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGACCCCTCTCCGCCTCCGAA	0.602000														46			5		0	0	1	0	0
ABHD14B	84836	broad.mit.edu	37	3	52003569	52003569	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52003569A>T	uc003dcm.3	-	3	1394	c.506T>A	c.(505-507)tTt>tAt	p.F169Y	PCBP4_uc003dcj.2_5'Flank|PCBP4_uc003dck.2_5'Flank|PCBP4_uc003dch.2_5'Flank|PCBP4_uc003dci.2_5'Flank|ABHD14B_uc011bdy.2_Missense_Mutation_p.F169Y|ABHD14B_uc021wza.1_Missense_Mutation_p.F131Y|ABHD14B_uc003dcn.3_Missense_Mutation_p.F169Y|ABHD14B_uc011bdz.1_3'UTR	NM_032750	NP_116139	Q96IU4	ABHEB_HUMAN	Homo sapiens abhydrolase domain containing 14B (ABHD14B), transcript variant 1, mRNA.	169						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		CAGGTGCTCAAAGCTGGTCTG	0.597000														145			7		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101972234	101972234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101972234C>T	uc022cbh.1	+	0	2437	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.R813C	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	813						cytoplasm	protein binding										TTCTGCATTTCGTGAATTTGA	0.358000														65			25		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846826	140846826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140846826C>T	uc004cog.3	+	6	1212	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	CACNA1B_uc022bqn.1_Missense_Mutation_p.S356L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	356					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.S356S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCGTGCTCTCGGGGTGAGAG	0.612000														42			4		0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477077	28477077	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:28477077G>A	uc009vte.3	-	2	791	c.456C>T	c.(454-456)ttC>ttT	p.F152F	PTAFR_uc021ojz.1_Silent_p.F152F|PTAFR_uc001bpl.3_Silent_p.F152F|PTAFR_uc001bpm.4_Silent_p.F152F|PTAFR_uc021oka.1_Silent_p.F152F	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	152					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGATGAGGAAGTAGGATG	0.577000														68			6		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57967172	57967172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57967172G>A	uc002aei.3	+	11	1341	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	GCOM1_uc002aej.3_Missense_Mutation_p.E376K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E404K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Intron|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Missense_Mutation_p.E404K|GCOM1_uc002aer.1_Non-coding_Transcript	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	404					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CCAGAATAATGAACTACAAAG	0.383000														24			12		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956158	18956158	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18956158C>T	uc001mpg.3	-	0	392	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	58					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAGGCGTTCCTGCGCATGC	0.572000														167			11		0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73002723	73002723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:73002723C>T	uc004aht.3	-	1	1998	c.704G>A	c.(703-705)cGa>cAa	p.R235Q		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.	235					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTTTTTCGATCGCTTGATCAT	0.597000														54			5		0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67485678	67485678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:67485678G>A	uc003xwj.3	-	10	1941	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	MYBL1_uc003xwl.3_Missense_Mutation_p.P512S|MYBL1_uc003xwk.3_Missense_Mutation_p.P511S	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	512	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CCACAAATAGGGGTTGATGTA	0.343000														59			6		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47940747	47940747	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47940747C>T	uc010ele.3	-	6	2098	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	SLC8A2_uc002pgx.3_Silent_p.Q694Q|SLC8A2_uc010xyq.2_Silent_p.Q450Q|SLC8A2_uc010xyr.2_Silent_p.Q157Q			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	694					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)		CCTCTAAAAACTGCTCCCTCC	0.512000														85			5		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773539	43773539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43773539C>T	uc002owd.4	-	0	144	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG9_uc002owe.4_Nonsense_Mutation_p.W15*|PSG9_uc010xwm.2_Nonsense_Mutation_p.W15*|PSG9_uc002owf.4_Nonsense_Mutation_p.W15*|PSG9_uc002owg.2_Nonsense_Mutation_p.W15*	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	15					female pregnancy	extracellular region		p.W15R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGAGCCCCTTCCAGGTGATGC	0.617000														105			24		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962271	2962271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2962271C>T	uc003smv.3	-	16	2600	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	756					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)		GTCTCACCTTCGTGGTTGACC	0.627000			Mis		DLBCL									48			12		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341719	115341719	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115341719A>C	uc001lai.4	+	8	1026	c.923A>C	c.(922-924)gAg>gCg	p.E308A	HABP2_uc021pyr.1_Missense_Mutation_p.E282A|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	308					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GAGATAGCAGAGAGGAAGATC	0.557000														92			5		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511084	76511084	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76511084G>A	uc010dhp.2	-	25	4010	c.3885C>T	c.(3883-3885)gaC>gaT	p.D1295D		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTCTTCCAGTCCTCGATGC	0.433000														62			6		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149246955	149246955	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:149246955G>A	uc002twm.4	+	12	4052	c.3055_splice	c.e12-1	p.V1019_splice	MBD5_uc010zbs.2_Splice_Site|MBD5_uc002two.3_Splice_Site_p.V277_splice|MBD5_uc002twp.3_Splice_Site_p.V69_splice	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1019						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTTCTTCAAGGTGAGAATGCA	0.388000														21			5		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427864	97427864	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:97427864C>T	uc002swx.3	+	0	1226	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	376					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TAGAGGATATCATGACCCAGC	0.517000														60			6		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738546	72738546	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72738546G>A	uc003txy.1	-	1	441	c.240C>T	c.(238-240)ctC>ctT	p.L80L	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.L80L|TRIM50_uc003txz.1_Silent_p.L80L	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	80						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GGTCCCCAGGGAGCCTCAGGG	0.687000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			5		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175323630	175323630	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175323630C>T	uc001gkp.1	-	15	3360	c.3279G>A	c.(3277-3279)tgG>tgA	p.W1093*	TNR_uc009wwu.1_Nonsense_Mutation_p.W1093*	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1093	Fibronectin type-III 9.				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)					CCAGTCGAATCCAGGTGTCTT	0.552000														25			4		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019046	75019046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:75019046C>T	uc001xqa.3	-	5	1630	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	415	EGF-like 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACCAGCATTCGTCCCTGCCG	0.652000														41			7		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619044	48619044	+	Missense_Mutation	SNP	G	A	A	rs146418495		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48619044G>A	uc003ctz.2	-	48	4745	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1582	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCTCCAGGAAGAACCAAG	0.567000														56			10		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763580	102763580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102763580C>T	uc001ksj.3	+	2	895	c.725C>T	c.(724-726)tCc>tTc	p.S242F	LZTS2_uc010qpw.2_Missense_Mutation_p.S242F|LZTS2_uc001ksk.3_Missense_Mutation_p.S242F|LZTS2_uc001ksl.3_Missense_Mutation_p.S242F|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	242	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center		p.S242F(2)|p.S105F(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ACCACCAGCTCCCCAGGCGGG	0.697000														61			7		0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21166519	21166519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:21166519C>T	uc001unh.3	+	8	797	c.401C>T	c.(400-402)cCt>cTt	p.P134L	IFT88_uc001uni.3_Missense_Mutation_p.P125L|IFT88_uc001unj.3_Missense_Mutation_p.P124L|IFT88_uc010tcq.2_Missense_Mutation_p.P105L	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	134					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CCTGCTTCCCCTTTGGAAGCC	0.358000														16			6		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28196950	28196950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:28196950G>A	uc001zbh.4	-	17	2041	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	OCA2_uc010ayv.3_Missense_Mutation_p.P620L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	644					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding	p.P644P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATGAATGCCAGGGACAAACGA	0.438000									Oculocutaneous Albinism					17			4		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82402474	82402474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:82402474C>T	uc001dit.4	+	4	531	c.350C>T	c.(349-351)cCt>cTt	p.P117L	LPHN2_uc001dis.3_Missense_Mutation_p.P117L|LPHN2_uc001diu.3_Missense_Mutation_p.P117L|LPHN2_uc001div.3_Missense_Mutation_p.P117L|LPHN2_uc009wcd.3_Missense_Mutation_p.P117L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	117	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GATCCATGTCCTGGAACATAC	0.353000														25			7		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059395	152059395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152059395C>T	uc001ezo.1	-	2	828	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	255							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAGTTTCCTTCCTGTTCTCCA	0.433000														84			6		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748984	151748984	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151748984G>A	uc009wnb.1	-	6	1157	c.975C>T	c.(973-975)atC>atT	p.I325I	TDRKH_uc001eyy.2_Silent_p.I101I|TDRKH_uc001ezb.4_Silent_p.I321I|TDRKH_uc001ezc.4_Silent_p.I280I|TDRKH_uc001eza.4_Silent_p.I325I|TDRKH_uc001ezd.4_Silent_p.I325I|TDRKH_uc010pdn.1_Silent_p.I101I	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	325							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)			GGGAGCCAACGATCTGGATCC	0.498000														88			18		0	0	1	0	0
C17orf79	55352	broad.mit.edu	37	17	30179858	30179858	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:30179858A>G	uc002hgp.3	-	2	466	c.358T>C	c.(358-360)Ttg>Ctg	p.L120L	C17orf79_uc010css.3_Non-coding_Transcript	NM_018405	NP_060875	Q9NQ92	COPR5_HUMAN	Homo sapiens chromosome 17 open reading frame 79 (C17orf79), mRNA.	120					histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1)				TCTGCTTTCAACTCCGAGTCC	0.527000														116			13		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9768817	9768817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9768817G>A	uc021wst.1	+	19	1594	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	CPNE9_uc003bsd.3_Missense_Mutation_p.D474N	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	475	VWFA.							p.G474C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GTTGGACGGTGATGATGTGCG	0.597000														119			10		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816807	77816807	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:77816807G>A	uc003hki.3	-	0	2196	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	732																	GATAGACAGGGAAAATGGGCT	0.502000														276			21		0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577301	16577301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16577301G>A	uc001ayg.3	-	9	2234	c.2018C>T	c.(2017-2019)cCt>cTt	p.P673L	FBXO42_uc001ayf.3_Missense_Mutation_p.P580L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	673										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGTTTCAGGAGGTCCAACCAC	0.463000														184			21		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292991	219292991	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219292991C>T	uc002vib.3	+	4	520	c.498C>T	c.(496-498)ttC>ttT	p.F166F	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F166F|VIL1_uc002vic.1_Silent_p.F166F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	166	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.F166F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGATGTTTTCCTCCTGGACC	0.547000														89			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183673091	183673091	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183673091C>T	uc003ivd.1	+	18	3843	c.3768C>T	c.(3766-3768)gtC>gtT	p.V1256V	ODZ3_uc003ive.1_Silent_p.V669V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1256					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)		ATGCAGAAGTCGTCGCAGGGA	0.537000														33			9		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124248979	124248979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124248979C>T	uc001lgj.2	+	2	742	c.614C>T	c.(613-615)tCt>tTt	p.S205F		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	205	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GCTAGTGGGTCTGGGTTTATT	0.493000														115			6		0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178415796	178415796	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:178415796G>A	uc002uln.3	-	0	1729	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	TTC30B_uc010zfc.1_Nonsense_Mutation_p.R338*	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	566					cell projection organization	cilium	binding	p.S565Y(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTGATAACTCGAGAAATACCA	0.368000														105			12		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877702	27877702	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27877702G>A	uc021ojw.1	-	0	925	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	AHDC1_uc009vsy.3_Silent_p.L309L|AHDC1_uc009vsz.1_Silent_p.L309L|AHDC1_uc001boh.1_Silent_p.L182L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	309	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		AGGCCCGGCAGCCCCAGAGGA	0.687000														21			12		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981841	63981841	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:63981841C>T	uc003dlv.3	+	11	2896	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	ATXN7_uc003dlw.4_Silent_p.T781T|ATXN7_uc021wzy.1_Silent_p.T781T|ATXN7_uc011bfn.2_Silent_p.T636T	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	781	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCCCCCCCACCGGGAGCCCTG	0.532000														30			5		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74278019	74278019	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74278019A>T	uc002jrd.1	-	7	3871	c.3691T>A	c.(3691-3693)Tat>Aat	p.Y1231N	QRICH2_uc010dgw.1_Missense_Mutation_p.Y75N	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1231							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGTTGCTCATAGCGCCGCACC	0.642000														38			7		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101654089	101654089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:101654089C>T	uc010fiv.3	-	7	1443	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	TBC1D8_uc010yvw.2_Missense_Mutation_p.E453K|TBC1D8_uc002tau.4_Missense_Mutation_p.E195K	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	438					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding	p.E438*(1)|p.E453*(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCACTCTCCTCGCTATTTTGA	0.537000														124			9		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757636	53757636	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:53757636G>A	uc003dgv.4	+	12	2005	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	CACNA1D_uc003dgu.4_Silent_p.G634G|CACNA1D_uc003dgy.4_Silent_p.G614G|CACNA1D_uc003dgw.4_Silent_p.G281G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	614					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTCCCCTGGGGATCTCTGTGT	0.473000														153			34		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152507129C>T	uc021vrb.1	-	50	7215	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2396					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCACAACATCGTTCTGATCA	0.388000														40			8		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743712	17743712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17743712C>T	uc021uqk.1	-	27	3346	c.3304G>A	c.(3304-3306)Gac>Aac	p.D1102N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1103	MHD1.				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						CGATGCTTGTCGTGCTCTGGC	0.537000														37			6		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10438429	10438429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10438429C>T	uc010coi.3	-	18	2269	c.2141G>A	c.(2140-2142)gGa>gAa	p.G714E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G714E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	714	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTTGGAAATCCTTTCCTACA	0.418000														29			4		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36580017	36580017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36580017G>A	uc022abu.1	-	15	1615	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	AOAH_uc003tfh.4_Missense_Mutation_p.S405F|AOAH_uc011kba.2_Missense_Mutation_p.S373F	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	405					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.S405F(2)		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						GGGCAGGTGGGAATTTAGATG	0.463000														33			7		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498624	61498624	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61498624G>T	uc002jal.4	+	24	5304	c.5281G>T	c.(5281-5283)Gaa>Taa	p.E1761*	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Nonsense_Mutation_p.E872*	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1761							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCCTAACGAAATCAAACC	0.507000														116			18		2.37509e-13	2.40979e-13	1	1	0
CCDC27	148870	broad.mit.edu	37	1	3686416	3686416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3686416G>A	uc001akv.2	+	10	1894	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	605										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTTGGCCAACGAGATCTCTGA	0.557000														109			22		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671746	49671746	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:49671746C>T	uc002efs.3	-	4	1615	c.1317G>A	c.(1315-1317)caG>caA	p.Q439Q	ZNF423_uc010vgn.2_Silent_p.Q322Q	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	439					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGTGTGGCTCTGCTGGGGCT	0.572000														65			5		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166091	118166092	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118166091_118166092CC>TT	uc021osq.1	+	0	601_602	c.601_602CC>TT	c.(601-603)ccc>TTc	p.P201F	FAM46C_uc001ehe.3_Missense_Mutation_p.P201F	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	201										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TTCCAATAATCCCATCTCTGAG	0.480000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				118			8		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695396	49695396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49695396C>T	uc003cxe.4	+	4	8521	c.8407C>T	c.(8407-8409)Cct>Tct	p.P2803S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2803					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCCCTGTCCCCTCACCGGCT	0.622000														60			6		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38126810	38126810	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38126810G>A	uc002htl.1	+	3	586	c.468G>A	c.(466-468)gtG>gtA	p.V156V	GSDMA_uc002htm.1_Silent_p.V156V	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	156					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TGATGGAGGTGGTGGAGACGG	0.567000														10			5		0	0	1	0	0
CMTM7	112616	broad.mit.edu	37	3	32490978	32490978	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32490978C>T	uc003cey.1	+	2	602	c.366C>T	c.(364-366)ctC>ctT	p.L122L	CMTM7_uc003cez.1_Intron	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA.	122	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						GTACCCTGCTCCTCCTCATCG	0.532000														99			7		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135098992	135098992	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135098992G>A	uc010qvc.1	-	12	2304	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	TUBGCP2_uc001lmf.1_Silent_p.I214I|TUBGCP2_uc001lmg.1_Silent_p.I621I|TUBGCP2_uc010qvd.1_Silent_p.I491I|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	621					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCCACTTGACGATGTAGTCGA	0.627000														46			6		0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46110610	46110610	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:46110610G>A	uc002imy.3	-	5	334	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA.	109					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat|cis-Golgi network				lung(3)|upper_aerodigestive_tract(1)	4						CCACGTATAGGAAGAGGTCAA	0.488000														15			4		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944432	50944432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50944432C>T	uc009xog.3	-	19	2840	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	OGDHL_uc001jie.3_Missense_Mutation_p.E909K|OGDHL_uc010qgt.2_Missense_Mutation_p.E852K|OGDHL_uc010qgu.2_Missense_Mutation_p.E700K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	909					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCACTTTCTCCTCCAGGTCC	0.632000														121			6		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169756	57169756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:57169756G>A	uc001cyk.4	+	6	972	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	301					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.E301D(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAAAAATTTGAATGTACAGA	0.373000														110			6		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603572	37603572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37603572C>T	uc003ara.3	-	1	333	c.271G>A	c.(271-273)Gag>Aag	p.E91K	SSTR3_uc003arb.3_Missense_Mutation_p.E91K|SSTR3_uc021wos.1_Missense_Mutation_p.E91K	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	91					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						ATGAAGAGCTCGTCGGCCAGC	0.652000														77			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92257900	92257900	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92257900C>T	uc001pdj.4	+	1	3410	c.3393C>T	c.(3391-3393)acC>acT	p.T1131T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1131	Cadherin 10.				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)				TCTACTCCACCATTGAGGTCT	0.483000										TCGA Ovarian(4;0.039)				229			18		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203825973	203825973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203825973C>T	uc002uzo.2	+	7	936	c.656C>T	c.(655-657)tCa>tTa	p.S219L	ALS2CR8_uc002uzn.3_Missense_Mutation_p.S117L|ALS2CR8_uc002uzm.3_Missense_Mutation_p.S219L|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.S143L|ALS2CR8_uc010zib.1_Missense_Mutation_p.S143L|ALS2CR8_uc010zic.1_Missense_Mutation_p.S131L|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S219L	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	219								p.S219L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						ATTGGAGATTCATACCGTGGC	0.388000														221			15		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986682	20986682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20986682G>A	uc010vbe.2	-	50	8132	c.8132C>T	c.(8131-8133)tCc>tTc	p.S2711F	DNAH3_uc010vbd.2_Missense_Mutation_p.S146F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2711	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T2710S(1)		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)		AGTTTCCTCGGAGGTGAGGAT	0.473000														129			17		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40750676	40750676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40750676C>T	uc001zlu.2	+	1	84	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	BAHD1_uc001zlt.2_Missense_Mutation_p.R5W|BAHD1_uc010bbp.1_Missense_Mutation_p.R5W|BAHD1_uc001zlv.2_Missense_Mutation_p.R5W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	5					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding	p.R5L(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GACACACACTCGGAGAAAGTC	0.597000														88			9		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35461220	35461220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:35461220G>A	uc001mwf.3	-	8	1149	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	PAMR1_uc001mwg.3_Missense_Mutation_p.S352L|PAMR1_uc010rew.2_Missense_Mutation_p.S241L|PAMR1_uc010rex.2_Missense_Mutation_p.S312L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	352					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CACCAGGTCTGAAATCTTTGG	0.438000														60			9		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121060540	121060540	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:121060540C>A	uc010rzo.2	+	21	6318	c.6318C>A	c.(6316-6318)ctC>ctA	p.L2106L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2106					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGGCCTCTCTGCAGCTGTG	0.567000														53			4		1	1	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42584584	42584584	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42584584G>T	uc002osk.4	+	1	2331	c.2096G>T	c.(2095-2097)tGt>tTt	p.C699F	ZNF574_uc002osm.4_Missense_Mutation_p.C609F|ZNF574_uc021uva.1_Missense_Mutation_p.C609F	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	609	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCCTACAAGTGTCGCGAGTGC	0.647000														47			10		4.68919e-08	4.74937e-08	1	1	0
MYL1	4632	broad.mit.edu	37	2	211163214	211163214	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:211163214G>A	uc002vec.3	-	2	363	c.234C>T	c.(232-234)gtC>gtT	p.V78V	MYL1_uc002veb.3_Silent_p.V34V	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	78	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GAGCTCGAAGGACATCACCGA	0.468000														17			4		0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194861	18194861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18194861G>A	uc001mnv.1	+	0	478	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	20						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGGACGTGAGGAGACTCCTTG	0.547000														95			15		0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71187172	71187172	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71187172C>T	uc002shj.3	+	5	636	c.549C>T	c.(547-549)atC>atT	p.I183I	ATP6V1B1_uc002shi.1_Silent_p.I183I|ATP6V1B1_uc010fdx.3_Silent_p.I141I	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	183					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCCAGAAGATCCCCATCTTCT	0.627000														69			6		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32233122	32233122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32233122C>T	uc011alu.2	+	25	2537	c.2335C>T	c.(2335-2337)Cca>Tca	p.P779S	DEPDC5_uc011als.2_Missense_Mutation_p.P701S|DEPDC5_uc003als.3_Missense_Mutation_p.P770S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P770S|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P219S|DEPDC5_uc011alw.1_Missense_Mutation_p.P100S|DEPDC5_uc003alw.3_Missense_Mutation_p.P68S|DEPDC5_uc011alx.2_5'UTR	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	770					intracellular signal transduction			p.D778D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGATCTCCTTCCAGAAGCAGA	0.532000														48			5		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236924440	236924440	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236924440C>T	uc001hyf.2	+	19	2697	c.2493C>T	c.(2491-2493)gtC>gtT	p.V831V	ACTN2_uc001hyg.2_Silent_p.V623V|ACTN2_uc009xgi.1_Silent_p.V831V|ACTN2_uc010pxu.1_Silent_p.V520V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	831					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCGAGCAGGTCATCGCCTCCT	0.517000														52			7		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79462079	79462079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79462079C>T	uc003hlb.2	+	73	12280	c.11840C>T	c.(11839-11841)cCt>cTt	p.P3947L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3942					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAGAATATCCTCTGAATACC	0.478000														46			8		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425991	75425991	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:75425991G>A	uc002sng.2	-	0	655	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	TACR1_uc002snh.3_Nonsense_Mutation_p.Q24*	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	24					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	p.Q24Q(1)|p.N23K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGCACGAACTGATTGGGTTCC	0.532000														16			8		0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49065687	49065687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49065687G>A	uc001rrz.2	-	3	1197	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C	KANSL2_uc001rrw.2_Missense_Mutation_p.R7C|KANSL2_uc001rrx.2_Missense_Mutation_p.R202C|KANSL2_uc001rry.2_Non-coding_Transcript	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	202																	GACTGCAAACGAATTAGCTTT	0.403000														88			14		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101987	9101987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9101987G>A	uc001apo.3	-	4	720	c.428C>T	c.(427-429)tCc>tTc	p.S143F	SLC2A5_uc010nzy.2_Missense_Mutation_p.S84F|SLC2A5_uc010nzz.2_Missense_Mutation_p.S28F|SLC2A5_uc010oaa.2_Missense_Mutation_p.S99F|SLC2A5_uc010oac.2_Silent_p.F101F|SLC2A5_uc001app.4_Missense_Mutation_p.S143F	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	143					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			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)		GACCACGTTGGAAGATACACC	0.498000														19			3		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505576	55505576	+	Silent	SNP	C	T	T	rs66498769		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55505576C>T	uc001cyf.2	+	0	428	c.66C>T	c.(64-66)ctC>ctT	p.L22L	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	22					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						tgctgctgctcctgGGTCCCG	0.706000														183			12		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996762	98996762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98996762G>A	uc010fij.3	+	3	493	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	CNGA3_uc002syt.3_Missense_Mutation_p.E114K|CNGA3_uc002syu.3_Missense_Mutation_p.E114K			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	114					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTCCAGCCAAGAAAGCAATGC	0.607000														55			7		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648726	20648726	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20648726G>A	uc002dhm.1	-	7	1232	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F388F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	388					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						CCTTCCCCATGAAACCCGGCT	0.537000														41			6		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49749975	49749975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49749975C>T	uc003cxh.3	+	26	2646	c.2560C>T	c.(2560-2562)Cgc>Tgc	p.R854C	RNF123_uc010hky.1_Missense_Mutation_p.R516C|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	854			R -> H (in dbSNP:rs34823813).			cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCACGGTGATCGCACAGGGTC	0.582000														47			5		0	0	1	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675320	31675320	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31675320C>T	uc003nwb.1	+	1	138	c.138C>T	c.(136-138)caC>caT	p.H46H	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Silent_p.H46H	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	46	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GGGACGAACACCTGTCATGGT	0.602000														309			53		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104476364	104476364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104476364C>T	uc001tkj.4	+	5	957	c.854C>T	c.(853-855)tCa>tTa	p.S285L	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	285					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGTACCAGTTCATTTTCTTAC	0.328000														19			4		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542880	14542880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:14542880G>A	uc010dln.3	-	0	720	c.266C>T	c.(265-267)tCc>tTc	p.S89F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	89								p.S89Y(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCATAAAGGAGTTGTCATG	0.607000														122			9		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292725	219292725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219292725G>A	uc002vib.3	+	3	407	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.V129M|VIL1_uc002vic.1_Missense_Mutation_p.V129M	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	129	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.V129V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGAAGCACGTGGAGACCAA	0.612000														157			16		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501699	47501699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47501699C>T	uc001cqt.3	+	5	881	c.631C>T	c.(631-633)Cct>Tct	p.P211S	CYP4X1_uc001cqr.3_Missense_Mutation_p.P210S|CYP4X1_uc001cqs.3_Missense_Mutation_p.P146S	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	211						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CACCCATGATCCTTATGCAAA	0.373000														31			6		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66902294	66902294	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66902294C>T	uc002jhq.3	-	18	2629	c.2289G>A	c.(2287-2289)aaG>aaA	p.K763K	ABCA8_uc002jhp.3_Silent_p.K723K|ABCA8_uc010wqq.2_Silent_p.K763K|ABCA8_uc010wqr.2_Silent_p.K702K|ABCA8_uc002jhr.3_Silent_p.K763K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	723						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)					TATCAAGATCCTTGTAAAGTT	0.313000														57			11		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95918458	95918458	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:95918458G>A	uc001teg.3	-	3	1875	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	USP44_uc001teh.3_Silent_p.F577F|USP44_uc009zte.3_Silent_p.F574F	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	577					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTACAGACCTGAATCGTTTGA	0.388000														55			5		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46847694	46847694	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46847694G>A	uc003oyo.3	-	8	1186	c.897C>T	c.(895-897)tcC>tcT	p.S299S	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.S299S|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Silent_p.S299S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	299	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACATTGGAGGACAAAACTT	0.428000														15			5		0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372707	151372707	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:151372707G>A	uc003wkk.3	-	3	1094	c.483C>T	c.(481-483)tcC>tcT	p.S161S	PRKAG2_uc011kvl.2_Silent_p.S37S|PRKAG2_uc003wkj.3_Silent_p.S117S|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Silent_p.S161S	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	161					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TTGACGGAGAGGAGGAGAGGC	0.582000														82			9		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983392	2983392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2983392G>A	uc001qlf.3	-	1	536	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	TULP3_uc010sef.1_5'Flank|FOXM1_uc001qle.3_Missense_Mutation_p.H85Y|FOXM1_uc009zea.3_Missense_Mutation_p.H85Y|FOXM1_uc009zeb.3_Missense_Mutation_p.H85Y|FOXM1_uc001qlg.3_Missense_Mutation_p.H85Y|C12orf32_uc010see.2_5'Flank|C12orf32_uc001qlh.3_5'Flank|C12orf32_uc001qli.3_5'Flank	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	85					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ATGATGCTGTGAATATTAGCA	0.512000														88			7		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43023869	43023869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43023869G>A	uc001zql.3	-	10	1805	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	563						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCCTGGGAAGGTGGGGGGTGG	0.607000														76			7		0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120711	41120711	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41120711C>T	uc001zmz.3	-	0	197	c.129G>A	c.(127-129)ccG>ccA	p.P43P	PPP1R14D_uc001zmy.3_Silent_p.P43P	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	43					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGAGGAGTCCGGGTGGGACT	0.607000														53			5		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103181	57103181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:57103181C>T	uc002lib.3	-	10	1250	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	CCBE1_uc010dpq.3_Missense_Mutation_p.E123K|CCBE1_uc002lia.3_Missense_Mutation_p.E247K	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	394					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TCTCTTGTCTCAGTTCTTCTT	0.512000														203			20		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056249	102056249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:102056249G>A	uc001tii.3	+	18	2211	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	MYBPC1_uc001tig.3_Missense_Mutation_p.E716K|MYBPC1_uc010svr.2_Missense_Mutation_p.E691K|MYBPC1_uc010svs.2_Missense_Mutation_p.E691K|MYBPC1_uc001tij.3_Missense_Mutation_p.E691K|MYBPC1_uc010svt.2_Missense_Mutation_p.E679K|MYBPC1_uc010svu.2_Missense_Mutation_p.E672K|MYBPC1_uc001tik.3_Missense_Mutation_p.E665K|MYBPC1_uc001tih.3_Missense_Mutation_p.E716K|MYBPC1_uc010svq.2_Missense_Mutation_p.E678K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	691	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGTGGCCTATGAGGTCCGCAT	0.468000														63			6		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70031744	70031744	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70031744C>T	uc001opj.3	+	24	2942	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.I588I|ANO1_uc010rql.1_Silent_p.I53I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	879					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGTACGACATCTCCAAGGACT	0.587000														77			5		0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89924858	89924858	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89924858C>T	uc002foz.1	+	7	1267	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	SPIRE2_uc010civ.1_Silent_p.P320P|SPIRE2_uc010ciw.1_Silent_p.P405P|SPIRE2_uc002fpa.1_Silent_p.P357P|SPIRE2_uc010cix.1_Silent_p.P272P	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	405					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCCCGCGGCCCCGCGTGCTGC	0.597000														83			7		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789330	80789330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80789330C>T	uc002kga.3	-	1	1312	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K	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.	334						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)			AGGTGGGAGTCTGAGACCATA	0.512000														195			22		0	0	1	0	0
IGLL3P	91353	broad.mit.edu	37	22	25714286	25714286	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25714286C>T	uc021wnj.1	+	0		c.63C>T								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						GGGTTTCAATCCAAGCATAAT	0.617000														83			6		0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86008712	86008712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:86008712C>T	uc001kdd.1	+	2	321	c.283C>T	c.(283-285)Cac>Tac	p.H95Y	RGR_uc001kdb.1_Missense_Mutation_p.S78L|RGR_uc001kdc.1_Missense_Mutation_p.H91Y|RGR_uc001kde.1_Missense_Mutation_p.H91Y	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	91					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCCAGGCTCACGGCTTCCA	0.627000														54			5		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096546	107096546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:107096546C>T	uc003dwi.1	+	0	359	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	38			R -> Q (in dbSNP:rs709564).							NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGTAAGATTCGGCACCAAGA	0.403000														42			4		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178722	112178722	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:112178722C>T	uc003kpz.4	+	16	7624	c.7431C>T	c.(7429-7431)tcC>tcT	p.S2477S	APC_uc011cvt.2_Silent_p.S2459S|APC_uc003kpy.4_Silent_p.S2477S|APC_uc010jbz.3_Silent_p.S2194S|APC_uc010jca.3_Silent_p.S1777S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2477	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACTAGGTCCCAGGCACAAA	0.458000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				20			5		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188166	6188166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6188166C>T	uc001amb.2	-	24	3954	c.3843G>A	c.(3841-3843)atG>atA	p.M1281I	CHD5_uc001alz.2_Missense_Mutation_p.M138I|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.	1281					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)		GGTACTCGTTCATGTTCTGTA	0.627000														41			4		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34070913	34070913	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34070913C>T	uc001bxm.1	-	41	6678	c.6501G>A	c.(6499-6501)cgG>cgA	p.R2167R	CSMD2_uc001bxn.1_Silent_p.R2169R|CSMD2_uc001bxo.1_Silent_p.R1040R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2169	Sushi 12.					integral to membrane|plasma membrane	protein binding	p.G2166V(1)		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)				GGTCCCAGTTCCGGTTGGTGC	0.587000														36			4		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745685	135745685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:135745685G>A	uc002tue.1	-	6	788	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R140C|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.R270C	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	253							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGATTGACGAACAGACACT	0.458000														73			5		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832778	35832778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35832778G>A	uc010edt.3	+	8	2029	c.1945G>A	c.(1945-1947)Gtg>Atg	p.V649M	CD22_uc010edu.3_Missense_Mutation_p.V561M|CD22_uc010edv.3_Missense_Mutation_p.V649M|CD22_uc002nzb.4_Missense_Mutation_p.V472M|CD22_uc010xst.2_Missense_Mutation_p.V477M|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	649	Ig-like C2-type 6.				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)	ATTGGAGCCGGTGAAGGTCCA	0.607000														54			4		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453748	37453748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:37453748C>T	uc001uvw.3	-	1	422	c.79G>A	c.(79-81)Gga>Aga	p.G27R	SMAD9_uc001uvx.3_Missense_Mutation_p.G27R|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	27	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCTTCATCTCCTTGCTTCCAG	0.562000														66			10		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79777367	79777367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79777367G>A	uc001jzn.3	-	9	1530	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	466					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)			GTGCAGCGAGGGCTGCCGATT	0.443000														47			10		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18736791	18736791	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18736791A>G	uc010exr.3	-	8	1731	c.1619T>C	c.(1618-1620)cTt>cCt	p.L540P	NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Missense_Mutation_p.L226P	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	0					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CCTGGTAAAAAGAATGTTAGC	0.413000														65			6		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878414	151878414	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:151878414C>T	uc003wla.3	-	35	6750	c.6531G>A	c.(6529-6531)caG>caA	p.Q2177Q	MLL3_uc003wkz.3_Silent_p.Q1238Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2177	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGTTTGGGGCTGCTGACTAT	0.473000			N		medulloblastoma									58			9		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114483010	114483010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:114483010C>T	uc003kqs.3	-	2	889	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TRIM36_uc011cwc.2_Missense_Mutation_p.R115Q|TRIM36_uc003kqt.3_5'UTR	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	127						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTGATTCCTCGTTCTCCAAG	0.463000														78			12		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105945824	105945824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105945824C>T	uc001kxw.3	-	14	2034	c.1918G>A	c.(1918-1920)Gga>Aga	p.G640R	WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Missense_Mutation_p.G641R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	640										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTCCAGGTCCATACTGTCTG	0.378000														71			6		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460757	142460757	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142460757C>T	uc003wak.2	+	4	647	c.630C>T	c.(628-630)ctC>ctT	p.L210L	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_uc003wam.2_Silent_p.L150L	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	210	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)			ATGGACAGCTCCAAGGAGTTG	0.498000														53			24		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878238	2878238	+	Missense_Mutation	SNP	G	A	A	rs35494032	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2878238G>A	uc002lwp.1	+	3	1369	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	ZNF556_uc002lwq.3_Missense_Mutation_p.E427K	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	428			E -> K (in dbSNP:rs35494032).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGTAAATGCGAAAAATGTGG	0.448000														109			30		0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51065086	51065086	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:51065086G>A	uc003bna.4	-	3	791	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	ARSA_uc021wsd.1_Silent_p.L263L|ARSA_uc021wse.1_Silent_p.L263L|ARSA_uc021wsf.1_Silent_p.L263L|ARSA_uc003bmz.4_Silent_p.L261L|ARSA_uc010hbf.3_3'UTR	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	261						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCTGTCATCAGGGTCCCCACA	0.622000														42			4		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121386	62121386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62121386G>A	uc002jdz.2	-	21	3009	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S	DQ572107_uc002jdy.1_5'Flank	NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	966					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGGGGCTCTGGGGGCTCGTGG	0.647000														168			21		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296747	28296747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:28296747C>T	uc002ymg.3	-	7	3147	c.2418G>A	c.(2416-2418)atG>atA	p.M806I		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	806	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTATAGTTCATGACTGTTC	0.443000														85			9		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38942419	38942419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38942419G>A	uc003jlo.2	-	38	5208	c.5186C>T	c.(5185-5187)tCt>tTt	p.S1729F	RICTOR_uc003jlp.2_Missense_Mutation_p.S1705F|RICTOR_uc010ivf.2_Missense_Mutation_p.S1382F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1705					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)					GGATTCAGCAGATGTATCAAC	0.348000														18			5		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662485	113662485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:113662485G>A	uc003ynu.3	-	18	3257	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	CSMD3_uc003yns.3_Missense_Mutation_p.S305L|CSMD3_uc003ynt.3_Missense_Mutation_p.S993L|CSMD3_uc011lhx.2_Missense_Mutation_p.S929L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1033	Sushi 5.					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						ACAACTAAATGAAACAGTAGA	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				69			6		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12954351	12954351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12954351G>A	uc002mvm.3	+	3	385	c.257G>A	c.(256-258)gGa>gAa	p.G86E	MAST1_uc021upp.1_5'UTR	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	86					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						AGGGCGGACGGACGCCGGTGG	0.672000														63			5		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308208	72308208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72308208G>A	uc002jkf.3	+	11	1671	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	DNAI2_uc002jkg.3_Missense_Mutation_p.E509K|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	521					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGGCTGAAGGAGAAGGGTAA	0.647000									Kartagener syndrome					38			11		0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599583	15599583	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:15599583T>G	uc002yjo.4	+	4	857	c.815T>G	c.(814-816)tTc>tGc	p.F272C	RBM11_uc002yjn.4_Missense_Mutation_p.F158C|RBM11_uc002yjp.4_Missense_Mutation_p.F158C	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	272							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGCCAAAAGTTCCGAAAGTCT	0.343000														26			3		0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986434	47986434	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47986434G>A	uc002pgy.3	-	3	537	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	KPTN_uc010xys.2_Non-coding_Transcript|LOC100505681_uc021uwo.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	145					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TGGCACAGCTGGAACGGAGTG	0.592000														200			8		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537318	5537318	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5537318C>T	uc001maz.4	-	0	639	c.354G>A	c.(352-354)acG>acA	p.T118T	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	118										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGGGATCATTCGTTGGCAGGT	0.547000														40			5		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458341	248458341	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248458341G>A	uc010pzj.2	-	0	540	c.540C>T	c.(538-540)ccC>ccT	p.P180P		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P180P(2)|p.A179A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GCACCAACACGGGGGCCTCGC	0.562000														61			14		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167865909	167865909	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167865909G>A	uc001ger.3	-	6	961	c.663C>T	c.(661-663)ccC>ccT	p.P221P	ADCY10_uc010plj.2_Silent_p.P68P|ADCY10_uc009wvk.3_Silent_p.P129P|ADCY10_uc009wvl.3_Silent_p.P220P|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	221					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAAAATTGGGGGGTGGTTTTA	0.328000														142			29		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188792	24188792	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24188792G>A	uc003xdy.3	+	11	1316	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ADAM28_uc003xdx.3_Silent_p.G411G|ADAM28_uc011kzz.2_Silent_p.G178G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G98G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	411	Disintegrin.				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)		CAATTTGTGGGAACCAGTTGG	0.408000														14			3		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106623	55106623	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55106623G>A	uc002qgh.1	+	4	599	c.417G>A	c.(415-417)ggG>ggA	p.G139G	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.G139G	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	139	Ig-like C2-type 2.				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)		CCTCAGGAGGGAACGTGACCC	0.542000														109			9		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228172560	228172560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228172560G>A	uc002vom.2	+	47	4549	c.4387G>A	c.(4387-4389)Ggg>Agg	p.G1463R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'UTR|COL4A3_uc021vxt.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1463	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGTCCAGAGGGGACAGTGCC	0.502000														40			9		0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80352305	80352305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80352305G>A	uc002ket.2	-	8	1090	c.938C>T	c.(937-939)cCg>cTg	p.P313L	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Intron	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	0						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						CCTCTCGGGCGGGTGGTGAGT	0.552000														133			16		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19335124	19335124	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19335124C>T	uc002nlz.3	+	4	759	c.660C>T	c.(658-660)atC>atT	p.I220I	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	220	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGTATCCTATCACCCAGTCCC	0.577000														101			34		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212392	26212392	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:26212392C>T	uc022buc.1	+	0	429	c.429C>T	c.(427-429)tcC>tcT	p.S143S	MAGEB6_uc004dbr.3_Silent_p.S143S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	143	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGATGTCTCCGTTCCTCAGG	0.527000														23			7		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141554381	141554382	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:141554381_141554382GG>AA	uc003yvn.3	-	13	1810_1811	c.1769_1770CC>TT	c.(1768-1770)ccc>cTT	p.P590L	EIF2C2_uc010meo.3_Missense_Mutation_p.P590L|EIF2C2_uc010men.3_Missense_Mutation_p.P513L	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	590	Piwi.				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)			GAAAGATGACGGGCTGCTGGAA	0.649000														132			8		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74319525	74319525	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:74319525G>A	uc011lsa.1	-	17	3720	c.3180C>T	c.(3178-3180)ctC>ctT	p.L1060L	TMEM2_uc011lrz.1_Silent_p.L53L|TMEM2_uc010mos.2_Silent_p.L997L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1060						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGAAGTTGACGAGGTATAGAA	0.428000														48			6		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47630437	47630437	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:47630437T>A	uc002eev.4	+	12	1410	c.1358T>A	c.(1357-1359)cTc>cAc	p.L453H	PHKB_uc002eeu.4_Missense_Mutation_p.L446H	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	453					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATCGCAAAACTCCTGGGTAAG	0.378000														67			6		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206240150	206240150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206240150G>A	uc001hdt.1	-	4	941	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	101						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCAGGAGGCGAACTGCAGGA	0.512000														58			6		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577943	210577943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:210577943C>T	uc010psr.2	+	4	712	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	HHAT_uc009xcx.3_Missense_Mutation_p.P202S|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Missense_Mutation_p.P137S|HHAT_uc010pss.2_Missense_Mutation_p.P157S|HHAT_uc010pst.2_Missense_Mutation_p.P139S|HHAT_uc001hhz.4_Missense_Mutation_p.P202S|HHAT_uc021pip.1_Missense_Mutation_p.P202S|HHAT_uc010psu.2_Missense_Mutation_p.P137S	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	202					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTACTCCTTTCCCTGGATGCT	0.562000														54			8		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2350101	2350101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2350101C>T	uc002cpy.1	-	12	2228	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	ABCA3_uc010bsk.1_Missense_Mutation_p.E448K|ABCA3_uc010bsl.1_Missense_Mutation_p.E506K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	506					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCACTGTCTTCTTCCTCCTTC	0.557000														116			9		0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717957	72717957	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72717957G>A	uc003txw.3	-	7	1088	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.F337F|NSUN5_uc003txv.3_Silent_p.F337F|NSUN5_uc003txx.3_Silent_p.F299F	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	337							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTCGCTGCTGGAACCCTGCCA	0.627000														32			12		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126433650	126433650	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:126433650C>T	uc011lzm.1	-	5	491	c.277_splice	c.e5-1	p.E93_splice	DENND1A_uc004bny.1_Splice_Site|DENND1A_uc004bnz.1_Splice_Site_p.E125_splice|DENND1A_uc004boa.1_Splice_Site_p.E125_splice|DENND1A_uc004bob.1_Splice_Site_p.E95_splice|DENND1A_uc004boc.3_Splice_Site_p.E93_splice	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	125	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CACTGATTTTCCTGAAAGAAA	0.502000														68			6		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121592	38121592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38121592C>T	uc003atr.3	+	6	3300	c.3029C>T	c.(3028-3030)tCc>tTc	p.S1010F	TRIOBP_uc003atu.3_Missense_Mutation_p.S838F|TRIOBP_uc003atq.1_Missense_Mutation_p.S1010F|TRIOBP_uc003ats.1_Missense_Mutation_p.S838F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1010					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)					CCTGAGCCCTCCCAGCCTCCA	0.637000														119			10		0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49937004	49937004	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49937004C>T	uc002pnp.3	-	6	1018	c.846G>A	c.(844-846)gcG>gcA	p.A282A	SLC17A7_uc002pnq.1_Silent_p.A215A|SLC17A7_uc002pno.3_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	282					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCATGAGTTTCGCGCTCTCTC	0.627000														36			10		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60901999	60901999	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60901999G>A	uc002ycq.3	-	38	5203	c.5136C>T	c.(5134-5136)ctC>ctT	p.L1712L	LAMA5_uc021wfw.1_Silent_p.L1712L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1712	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCATAACGGAGGGTCCCAC	0.612000														96			11		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780258	169780258	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:169780258G>A	uc002ueo.1	-	27	3966	c.3840C>T	c.(3838-3840)atC>atT	p.I1280I	ABCB11_uc010zda.1_Silent_p.I698I|ABCB11_uc010zdb.1_Silent_p.I756I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1280	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.T1279T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCGCGTTCTGGATGGTGGACA	0.507000														49			5		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140569	143140570	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143140569_143140570AG>GA	uc011ktg.2	+	0	24_25	c.24_25AG>GA	c.(22-27)ctagga>ctGAga	p.G9R	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	9					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACATGGTTCTAGGATCTTCGGT	0.480000														69			4		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76387881	76387881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:76387881G>A	uc001dhe.2	-	1	705	c.565C>T	c.(565-567)Cct>Tct	p.P189S	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	189					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACTCTCGAAGGGTAGAGTACT	0.363000														43			6		0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49055203	49055203	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49055203G>A	uc003cvk.1	-	2	581	c.561C>T	c.(559-561)tcC>tcT	p.S187S	DALRD3_uc003cvl.1_Silent_p.S187S|DALRD3_uc003cvm.1_Silent_p.S20S|DALRD3_uc010hko.1_Silent_p.S20S|DALRD3_uc011bca.1_Silent_p.S187S|NDUFAF3_uc003cvn.3_5'Flank	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	187					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGTGTGGGAGGAAGCTCTCT	0.627000														28			4		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39111957	39111957	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39111957A>T	uc003awg.3	+	2	504	c.350A>T	c.(349-351)tAc>tTc	p.Y117F		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	117					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAGGCCTCCTACGCCACAGTG	0.597000														86			14		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100144800	100144800	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:100144800G>A	uc001kpc.3	-	14	1665	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	527							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCTGGTCCAGGGACATGGCG	0.607000														31			4		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246568	65246568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65246568C>T	uc001xht.3	-	19	4399	c.4348G>A	c.(4348-4350)Gga>Aga	p.G1450R	SPTB_uc001xhr.3_Missense_Mutation_p.G1450R|SPTB_uc001xhs.3_Missense_Mutation_p.G1450R|SPTB_uc001xhu.3_Missense_Mutation_p.G1450R|SPTB_uc010aqi.3_Missense_Mutation_p.G111R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1450					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTGCATCTCCTCCCTCCTCT	0.572000														125			5		0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121773727	121773727	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:121773727C>T	uc003vka.3	-	0	150	c.54G>A	c.(52-54)aaG>aaA	p.K18K	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.K18K|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	18					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGTGAAGACCCTTGGAGAGGC	0.557000														70			15		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814561	156814561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156814561C>T	uc010pht.2	-	12	2811	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	838	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTGGTGGCTCGAGCCAGCGC	0.627000														60			10		0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43442444	43442444	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:43442444T>C	uc003bdi.3	-	9	1355	c.1114A>G	c.(1114-1116)Aag>Gag	p.K372E	TTLL1_uc010gzh.3_Missense_Mutation_p.K343E|TTLL1_uc021wqt.1_Missense_Mutation_p.K334E|TTLL1_uc003bdj.3_Missense_Mutation_p.K258E	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	372					protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGGACTTCCTTAGGTGGCGAC	0.498000														152			5		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488468	103488468	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103488468G>A	uc001dum.3	-	7	1429	c.1111C>T	c.(1111-1113)Cta>Tta	p.L371L	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.L359L|COL11A1_uc001dun.3_Silent_p.L320L|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	359	Nonhelical 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			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)		TTTTCATATAGTGTATCCTCA	0.313000														23			16		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124335585	124335585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124335585G>A	uc001uft.4	+	33	5924	c.5899G>A	c.(5899-5901)Gag>Aag	p.E1967K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1967	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGATCTGTGAGATCATGCT	0.647000														57			7		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813931	42813931	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42813931C>T	uc002oti.3	+	1	573	c.195C>T	c.(193-195)acC>acT	p.T65T	PRR19_uc002oth.1_Silent_p.T65T|PRR19_uc002otj.3_Silent_p.T65T	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	65										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGTCATAACCCAGGGCCGGC	0.637000														130			20		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233897394	233897394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233897394C>T	uc010zmn.2	+	0	13	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	5							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGCGTCCCTTCCTGTCCTGCA	0.617000														140			10		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30189431	30189431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30189431C>T	uc003agr.3	-	16	1981	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	ASCC2_uc011akr.2_Missense_Mutation_p.E537K|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TACTCATCCTCGTAGTAGACA	0.602000														37			5		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921659	213921659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:213921659C>T	uc002vem.3	-	3	473	c.304G>A	c.(304-306)Gag>Aag	p.E102K	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.E49K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E102K|IKZF2_uc002vel.3_Missense_Mutation_p.E49K|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Missense_Mutation_p.E102K|IKZF2_uc002ven.3_Missense_Mutation_p.E102K	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATTCCTCCCTCGCCTTGAAGC	0.512000														4			4		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561870	145561870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145561870G>A	uc001eob.1	+	9	1666	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	ANKRD35_uc010oyx.1_Missense_Mutation_p.G363R	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	520										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTCATGGAGGGAGCCCTGGG	0.622000														182			23		0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5997222	5997222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5997222G>A	uc002meb.3	-	15	2131	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F	RFX2_uc002mec.3_Missense_Mutation_p.S596F	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GATCACCATGGAGCTGGGGAC	0.642000														18			5		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60589653	60589653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60589653G>A	uc002ybs.3	-	1	1471	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	491					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTGGCAGGGCGAGGCGCCATG	0.647000														28			11		0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018226	61018226	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61018226G>A	uc010dpw.3	-	5	659	c.504C>T	c.(502-504)atC>atT	p.I168I	KDSR_uc010xem.2_Intron	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	168					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ACACAAACACGATCCTGCCCA	0.547000														93			5		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447897	19447897	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19447897G>A	uc001bbi.3	-	67	9931	c.9927C>T	c.(9925-9927)ttC>ttT	p.F3309F	UBR4_uc001bbk.1_Silent_p.F956F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3309					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATCCACAAGGAAACTGACTT	0.582000														44			6		0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799262	20799262	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:20799262C>T	uc002gyf.3	-	0	192	c.72G>A	c.(70-72)agG>agA	p.R24R	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	24										large_intestine(3)|lung(3)|skin(1)	7						TAGGGGTCTTCCTCGTGGCGT	0.637000											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			5		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573793	48573793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48573793G>A	uc003ctv.3	-	7	753	c.736C>T	c.(736-738)Cac>Tac	p.H246Y	PFKFB4_uc003ctx.3_Missense_Mutation_p.H203Y|PFKFB4_uc010hkb.3_Missense_Mutation_p.H246Y|PFKFB4_uc003ctw.3_Missense_Mutation_p.H55Y|PFKFB4_uc010hkc.3_Missense_Mutation_p.H246Y|PFKFB4_uc011bbm.2_Missense_Mutation_p.H235Y|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	246	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	p.I245T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGGGTCACGTGGATGTTCATG	0.607000														142			12		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34642915	34642915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34642915C>T	uc010ucc.2	+	3	1202	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	C15orf55_uc010ucd.2_Missense_Mutation_p.R264C|C15orf55_uc001zif.3_Missense_Mutation_p.R246C	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	246						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCCAGTGCTTCGTTCCCTGGC	0.557000			T	"""BRD3, BRD4"""	lethal midline carcinoma									33			12		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88127940	88127940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:88127940C>T	uc003plv.3	+	6	769	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	C6orf165_uc003plu.2_Missense_Mutation_p.H216Y|C6orf165_uc003plw.3_Missense_Mutation_p.H28Y|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	216										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGCTGTTCTCCATGTAGCAAT	0.448000														33			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237801675	237801675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237801675G>A	uc001hyl.1	+	44	6931	c.6811G>A	c.(6811-6813)Ggt>Agt	p.G2271S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2271	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)			TTATTTGGCTGGTTGTGGACT	0.408000														70			8		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124330318	124330318	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124330318C>T	uc001uft.4	+	29	5203	c.5178C>T	c.(5176-5178)atC>atT	p.I1726I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1726	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAACGCGCATCACCATGCCGC	0.463000														63			5		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48181875	48181875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48181875G>A	uc010slo.2	-	19	2503	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	HDAC7_uc001rqe.3_Missense_Mutation_p.R204C|HDAC7_uc001rqj.4_Missense_Mutation_p.R733C|HDAC7_uc001rqk.4_Missense_Mutation_p.R753C|HDAC7_uc010slp.2_5'UTR	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	731	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|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)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TCGTCATGGCGATGCAGGGAG	0.592000														80			5		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631265	179631265	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179631265C>T	uc010pnp.2	+	14	2867	c.2349C>T	c.(2347-2349)tgC>tgT	p.C783C	TDRD5_uc021pfm.1_Silent_p.C729C|TDRD5_uc001gnf.2_Silent_p.C729C|TDRD5_uc021pfn.1_Silent_p.C783C|TDRD5_uc001gnh.2_Silent_p.C284C	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	780					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAATGCCATGCCTGGAGTCAG	0.393000														26			6		0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124672371	124672371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124672371G>A	uc001lgv.3	+	2	340	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	73						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CCACCACCATGGAGTCTTGTC	0.512000														23			6		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942168	12942168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12942168G>A	uc001aun.2	-	2	453	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	128										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)		TTGGCATTGAGGAAGCACCCA	0.493000														175			62		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088288	56088288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56088288G>A	uc001shh.3	-	16	2528	c.2308C>T	c.(2308-2310)Ctt>Ttt	p.L770F	ITGA7_uc001shg.3_Missense_Mutation_p.L766F|ITGA7_uc010sps.2_Missense_Mutation_p.L673F|ITGA7_uc009znw.3_Missense_Mutation_p.L13F|ITGA7_uc009znx.3_Missense_Mutation_p.L647F	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	810					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGGTGCTAAGGATGAGGTAG	0.582000														31			5		0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47104261	47104261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:47104261C>T	uc004dhp.3	+	14	2153	c.2153C>T	c.(2152-2154)aCc>aTc	p.T718I	USP11_uc004dhq.3_Missense_Mutation_p.T444I	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	718					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CAGCTGTTCACCCTGCAGACG	0.607000														16			7		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616090	92616090	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92616090C>T	uc001pdj.4	+	22	12485	c.12468C>T	c.(12466-12468)atC>atT	p.I4156I	FAT3_uc001pdi.4_Silent_p.I596I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4156					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)				AGGAGCTCATCGGCATCGCCG	0.592000										TCGA Ovarian(4;0.039)				505			42		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640629	140640629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:140640629G>A	uc021xsg.1	-	4	4017	c.3265C>T	c.(3265-3267)Cct>Tct	p.P1089S	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.P552S	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	1085					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACGTCCTGAGGGGCATTCCGC	0.617000														61			4		0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511582	73511582	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:73511582G>A	uc001jsd.3	-	5	882	c.741C>T	c.(739-741)gcC>gcT	p.A247A	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Silent_p.A115A	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	247						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGTGGTGAGGCTTCAAAGC	0.602000														54			7		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390494	158390494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158390494G>A	uc010pii.2	-	0	163	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	55					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)					GGGATATGAAGGGCCCTGTCC	0.502000														12			4		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2904000	2904000	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2904000G>A	uc002cry.1	-	4	649	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	195	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGCTTCTGCAGGGTCTGAGGG	0.582000														115			12		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108631794	108631794	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:108631794G>A	uc022cch.1	-	13	2965	c.2880C>T	c.(2878-2880)atC>atT	p.I960I	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.I960I	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	960	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGAGCTCAGGATATCTAAGG	0.498000														7			4		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957965	57957965	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57957965C>T	uc001sor.1	+	3	574	c.366C>T	c.(364-366)tcC>tcT	p.S122S	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	122	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACATCTACTCCATGGATGAGA	0.517000														44			5		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556054	29556054	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29556054C>T	uc003nmr.1	+	0	372	c.333C>T	c.(331-333)atC>atT	p.I111I	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	111					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGAGTGCATCCTCTTGACAG	0.567000														100			8		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991182	47991182	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47991182G>A	uc002xur.1	-	1	1081	c.915C>T	c.(913-915)ctC>ctT	p.L305L	KCNB1_uc002xus.1_Silent_p.L305L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	305					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAAGGATGCGGAGAATTCGCA	0.532000														63			7		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130842030	130842030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130842030G>A	uc001uik.3	+	13	1868	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	PIWIL1_uc001uij.2_Missense_Mutation_p.E533K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	533					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCTAGGATTGAAGTGGATGA	0.418000														24			4		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42161681	42161681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:42161681C>T	uc001uyj.3	-	41	5308	c.5238G>A	c.(5236-5238)atG>atA	p.M1746I		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1746	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CGAAGGCTTCCATGACCATAC	0.483000														30			5		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35588003	35588003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35588003C>T	uc011dte.1	-	3	502	c.299G>A	c.(298-300)gGa>gAa	p.G100E	FKBP5_uc003okx.2_Missense_Mutation_p.G100E|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.G100E|FKBP5_uc003okz.2_Missense_Mutation_p.G100E	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	100	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GCATATCTCTCCTTTCTTCAT	0.433000														56			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188055	140188055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140188055G>A	uc003lhi.2	+	0	1384	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R428Q|PCDHAC2_uc011daa.2_Missense_Mutation_p.R428Q	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	442	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)			GTGACCGCGCGAGACGGGGGC	0.617000														107			21		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158828674	158828674	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:158828674T>A	uc003woh.3	-	7	964	c.778A>T	c.(778-780)Act>Tct	p.T260S	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	260					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGGCCGCAGTCCATGCACCG	0.607000														25			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140734913	140734913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140734913C>T	uc003ljq.2	+	0	146	c.146C>T	c.(145-147)gCc>gTc	p.A49V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.A49V	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	49	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)			GGCAACATCGCCAAGGACCTG	0.632000														67			15		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969438	5969438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5969438C>T	uc010qzt.2	+	0	862	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTCATTCCTGCAGCCCT	0.483000														55			5		0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31839332	31839332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31839332C>T	uc010jti.3	-	7	602	c.536G>A	c.(535-537)gGg>gAg	p.G179E	SLC44A4_uc011dol.2_Missense_Mutation_p.G103E|SLC44A4_uc011dom.2_Missense_Mutation_p.G137E	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	179						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAAGCAGCGCCCCAGAGCTGG	0.662000														109			16		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520547	33520547	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:33520547C>T	uc002hjd.2	-	0	866	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	260						integral to membrane											AGGCGAGGATCCCCACTGCCC	0.642000														93			19		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123213939	123213939	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123213939C>T	uc001ucz.3	-	0	1191	c.948G>A	c.(946-948)tcG>tcA	p.S316S	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	316					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GACCGAGGTTCGAAATTGGCA	0.488000														115			13		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707777	26707777	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26707777G>A	uc003acb.3	+	7	1921	c.1725G>A	c.(1723-1725)ggG>ggA	p.G575G	SEZ6L_uc003acd.3_Silent_p.G575G|SEZ6L_uc011akd.2_Silent_p.G575G|SEZ6L_uc003ace.3_Silent_p.G575G|SEZ6L_uc011akc.2_Silent_p.G575G|SEZ6L_uc003acc.3_Silent_p.G575G|SEZ6L_uc003acf.1_Silent_p.G348G|SEZ6L_uc010gvc.1_Silent_p.G348G	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	575	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCAGAATGGGAACTTCACTA	0.562000														230			52		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371642	240371643	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240371642_240371643CC>TT	uc010pye.2	+	5	3767_3768	c.3542_3543CC>TT	c.(3541-3543)ccc>cTT	p.P1181L	FMN2_uc010pyd.2_Missense_Mutation_p.P1177L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1177	FH1.|Pro-rich.				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	p.P1180S(1)		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)			CCCCCTCCGCCCCCTCTACCTG	0.688000														5			5		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147505304	147505304	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:147505304C>T	uc003lox.2	+	28	2831	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	SPINK5_uc003loy.2_Nonsense_Mutation_p.R950*	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	920	Kazal-like 14.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGAATTTCGAAACTATAT	0.408000														110			9		0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499621	59499621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59499621G>A	uc002agb.3	+	0	580	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	161					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTAGTCCAGCGAAATGTGGCC	0.418000														109			31		0	0	1	0	0
C6orf203	51250	broad.mit.edu	37	6	107361101	107361101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:107361101C>T	uc011eaj.2	+	2	827	c.152C>T	c.(151-153)tCt>tTt	p.S51F	C6orf203_uc003prq.3_Missense_Mutation_p.S46F|C6orf203_uc010kde.3_Missense_Mutation_p.S46F	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.	46										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TTGTATTTTTCTAGTACCAAG	0.388000														85			7		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65207891	65207892	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65207891_65207892GG>AA	uc001xhp.2	+	15	2058_2059	c.2019_2020GG>AA	c.(2017-2022)ctgggg>ctAAgg	p.G674R	PLEKHG3_uc001xhn.1_Missense_Mutation_p.G497R|PLEKHG3_uc001xho.1_Missense_Mutation_p.G553R|PLEKHG3_uc010aqh.1_Missense_Mutation_p.G95R|PLEKHG3_uc001xhq.1_Missense_Mutation_p.G58R	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	553					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)		AGGGCCTTCTGGGGATGGACCC	0.584000														160			18		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654410	150654410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150654410C>T	uc003wic.3	-	4	1498	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	KCNH2_uc003wib.3_5'Flank|KCNH2_uc011kux.2_Missense_Mutation_p.R270Q|KCNH2_uc003wid.3_5'Flank|KCNH2_uc003wie.3_Missense_Mutation_p.R366Q	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	366					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ATTGTGGGTTCGCTCCTTTAT	0.587000														11			3		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279990	32279990	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32279990G>A	uc001bts.1	-	1	1003	c.945C>T	c.(943-945)ctC>ctT	p.L315L	SPOCD1_uc001btu.3_Silent_p.L315L|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	315					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGCTGAACTGAGGGACTCCC	0.637000														27			5		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086093	100086093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100086093C>T	uc003uvd.1	+	3	908	c.749C>T	c.(748-750)gCc>gTc	p.A250V	NYAP1_uc003uve.1_Missense_Mutation_p.A32V	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	250																	CCAGCGGGCGCCGACTCGGAC	0.652000														77			4		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10091780	10091780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10091780C>T	uc002mmq.1	-	32	2575	c.2489G>A	c.(2488-2490)gGa>gAa	p.G830E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	830	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			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)			TCCCCGCTCTCCTTCCAGGCC	0.522000														114			6		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179730620C>T	uc002une.2	-	16	2716	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	CCDC141_uc002unf.1_Silent_p.K345K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	291	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478000														72			11		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759141	121759141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:121759141G>A	uc003ksw.1	+	3	915	c.709G>A	c.(709-711)Gag>Aag	p.E237K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E237K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E284K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E237K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	237					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGAAGAAACCGAGATCTCACC	0.458000														19			6		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170356074	170356074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170356074C>T	uc010zdh.1	+	8	818	c.760C>T	c.(760-762)Cac>Tac	p.H254Y	KBTBD10_uc002uet.3_Missense_Mutation_p.H254Y|KBTBD10_uc010fpw.3_Missense_Mutation_p.H233Y	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.	569					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		p.K253N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						CAATTCACTTCACAAAGTCTA	0.323000														59			4		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064824	44064824	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44064824A>G	uc003bdy.2	-	15	2056	c.1742T>C	c.(1741-1743)cTt>cCt	p.L581P	EFCAB6_uc003bdz.2_Missense_Mutation_p.L429P|EFCAB6_uc010gzi.2_Missense_Mutation_p.L429P|EFCAB6_uc010gzj.1_5'Flank|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTTGGAACAAGAACTGGAGA	0.403000														47			12		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625246	142625246	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142625246C>T	uc003wby.1	-	6	1110	c.846G>A	c.(844-846)gaG>gaA	p.E282E	TRPV5_uc003wbz.3_Silent_p.E282E	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	282					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGAGTCGATCTCTGTGAGGT	0.557000														48			8		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179688	166179688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166179688C>T	uc002udc.3	+	11	1984	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	SCN2A_uc002udd.3_Missense_Mutation_p.S565F|SCN2A_uc002ude.3_Missense_Mutation_p.S565F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	565					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATCCGTGGCTCCCTTTTCTCT	0.438000														52			7		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228556557	228556557	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228556557C>T	uc009xez.1	+	88	19946	c.19902C>T	c.(19900-19902)atC>atT	p.I6634I	OBSCN_uc001hsr.1_Silent_p.I1263I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6634	Protein kinase 1.				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)				CCCCCGAGATCATCCAGCAGA	0.577000														74			9		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28631588	28631588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:28631588G>A	uc001urw.3	-	3	462	c.380C>T	c.(379-381)tCc>tTc	p.S127F	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S127F	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	127					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AATGACCATGGAAACAACTCC	0.333000			"""Mis, O"""		"""AML, ALL"""									32			7		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822269	129822269	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:129822269G>A	uc009zyl.1	-	3	1537	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	403						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)		CGGGGTACTCGACCTGCCACG	0.577000														105			9		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9063437	9063437	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9063437C>T	uc009vmo.1	-	11	1461	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	487						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGAAGCTTCACCCTGTTTC	0.498000														99			5		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49935642	49935642	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49935642G>A	uc003cxy.4	-	4	1986	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	MST1R_uc011bdc.2_Silent_p.F574F|MST1R_uc011bdd.2_Silent_p.F574F|MST1R_uc011bde.1_Silent_p.F574F|MST1R_uc011bdf.1_Silent_p.F468F	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	574	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGGGGGTGGAACTGAAATG	0.592000														83			5		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65988626	65988626	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65988626C>T	uc001oha.2	+	10	1334	c.1200_splice	c.e10-1	p.K400_splice		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	400					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCACCACAGGCCTTTCTTTGA	0.587000														87			25		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799810	39799810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39799810C>T	uc021olw.1	+	0	2870	c.2870C>T	c.(2869-2871)tCt>tTt	p.S957F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2522					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)			ATGAGACTTTCTGTTGATAAT	0.398000														104			5		0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482475	178482475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:178482475G>A	uc002ulo.3	-	0	1220	c.955C>T	c.(955-957)Cct>Tct	p.P319S		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	319					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GTCTCTGGAGGAAAGGGATTC	0.468000														145			21		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716050	52716050	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52716050C>T	uc002pyp.3	+	4	910	c.615C>T	c.(613-615)atC>atT	p.I205I	PPP2R1A_uc010ydk.2_Silent_p.I150I|PPP2R1A_uc010epm.1_Silent_p.I245I|PPP2R1A_uc002pyq.3_Silent_p.I26I	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	205	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGAGTGAGATCATCCCCATGT	0.597000			Mis		clear cell ovarian carcinoma									128			18		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64612818	64612818	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64612818C>T	uc001xgl.3	+	83	15746	c.15516C>T	c.(15514-15516)atC>atT	p.I5172I	SYNE2_uc001xgm.3_Silent_p.I5172I|SYNE2_uc010apy.3_Silent_p.I1557I|SYNE2_uc001xgn.3_Silent_p.I134I|SYNE2_uc021rui.1_Silent_p.I134I|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5172					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGAAAGTATCACTGAGAGTG	0.318000														21			4		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12342813	12342813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12342813C>T	uc001atv.3	+	20	4795	c.4654C>T	c.(4654-4656)Ctc>Ttc	p.L1552F	VPS13D_uc001atw.3_Missense_Mutation_p.L1552F|VPS13D_uc001atx.3_Missense_Mutation_p.L740F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1552					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGACAATCTCGTGTACAG	0.433000														64			5		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001040	142001040	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142001040C>T	uc011kro.1	+	1	177	c.132C>T	c.(130-132)ccC>ccT	p.P44P	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACTGTGTCCCCATCTCTAATC	0.438000														16			4		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692520	49692520	+	Missense_Mutation	SNP	C	T	T	rs150712047	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49692520C>T	uc003cxe.4	+	4	5645	c.5531C>T	c.(5530-5532)gCc>gTc	p.A1844V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1844					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCACCGGGCCACCCCTGCA	0.642000														48			12		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137648659	137648659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:137648659C>T	uc004cfe.3	+	16	2258	c.1876C>T	c.(1876-1878)Ccc>Tcc	p.P626S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	626	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACAAACTGGCCCCAAGGTAGG	0.547000														62			7		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150418	247150418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247150418C>T	uc009xgu.3	-	3	1584	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCACATTCTTCACATTTGTAG	0.388000														24			5		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38652341	38652341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38652341C>T	uc010cxb.3	-	1	501	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	113					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AAGGTGGGGTCCAGTTCCAGG	0.587000														123			10		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943132	12943132	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12943132G>A	uc001aun.2	-	1	155	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	28										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)		CCTCCAGGGTGGACATGGCCA	0.587000														150			56		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080126	194080126	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194080126G>A	uc003ftt.3	-	2	1790	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V	LRRC15_uc003ftu.3_Silent_p.V549V|LRRC15_uc021xiy.1_Silent_p.V549V	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	549						integral to membrane		p.S554C(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCCAGGGCGACAATGCCAA	0.582000														67			4		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832029	35832029	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35832029C>T	uc010edt.3	+	6	1579	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L	CD22_uc010edu.3_Silent_p.L411L|CD22_uc010edv.3_Silent_p.L499L|CD22_uc002nzb.4_Silent_p.L322L|CD22_uc010xst.2_Silent_p.L327L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	499	Ig-like C2-type 4.				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)	CCCTGTCGCCCTGAATGTCCA	0.622000														78			16		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911118	101911118	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101911118C>T	uc010nod.3	+	2	2919	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.A759A|GPRASP1_uc004ejj.4_Silent_p.A759A|GPRASP1_uc004eji.4_Silent_p.A759A|GPRASP1_uc022cbd.1_Silent_p.A759A	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	759	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGATGAAGCCATTTCAGAGG	0.473000														60			12		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146672876	146672876	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:146672876T>C	uc001epi.2	-	6	1430	c.1041A>G	c.(1039-1041)aaA>aaG	p.K347K	FMO5_uc001eph.4_Silent_p.K347K|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	347						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATATCTTGTTTTTGACCACTT	0.453000														41			8		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239535	151239535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:151239535C>T	uc003lut.3	-	3	574	c.287G>A	c.(286-288)tGg>tAg	p.W96*	GLRA1_uc003lur.3_Nonsense_Mutation_p.W96*|GLRA1_uc003lus.3_Nonsense_Mutation_p.W13*	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	96					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGGTCGTTCCATTGCTGCCG	0.522000														34			5		0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198509761	198509761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:198509761C>T	uc009wzd.3	-	0	55	c.20G>A	c.(19-21)gGg>gAg	p.G7E	ATP6V1G3_uc001gup.3_Missense_Mutation_p.G7E|ATP6V1G3_uc001guo.3_Missense_Mutation_p.G7E	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	7					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CTGGTGGATCCCCTGAGACTG	0.448000														50			4		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295955	62295955	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62295955C>T	uc001ntl.3	-	4	6234	c.5934G>A	c.(5932-5934)aaG>aaA	p.K1978K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1978					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTCAGGCATCTTAAACTTGG	0.502000														205			18		0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370431	126370431	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:126370431G>A	uc001lhv.1	-	3	1174	c.651C>T	c.(649-651)ccC>ccT	p.P217P	FAM53B_uc001lhu.1_Silent_p.P217P|FAM53B_uc001lhw.3_Silent_p.P217P	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	217										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTCCTCCCACGGGGTGCAGGT	0.637000														18			6		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958475	21958475	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:21958475C>T	uc011kyx.2	+	11	1659	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	536										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGACCGAGATCGTCAACAGGT	0.478000														23			5		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416581	9416581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9416581C>T	uc010oae.2	+	1	970	c.631C>T	c.(631-633)Cct>Tct	p.P211S	SPSB1_uc001apv.3_Missense_Mutation_p.P211S	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	211	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		AAAACTGTATCCTGTAGTGAG	0.552000														123			17		0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20781762	20781762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:20781762G>A	uc002zsj.2	-	9	1736	c.1631C>T	c.(1630-1632)cCa>cTa	p.P544L	SCARF2_uc002zsk.2_Missense_Mutation_p.P539L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	539					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)			GGACCAGGATGGTGAGGGCTG	0.602000														82			7		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516631	195516631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195516631G>A	uc021xjp.1	-	1	1976	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S489F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	612					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATTTGTTGGGATGTGTGTCT	0.473000														331			28		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838632	43838632	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:43838632G>A	uc002zbe.3	+	6	1044	c.960G>A	c.(958-960)ggG>ggA	p.G320G	UBASH3A_uc002zbf.3_Silent_p.G282G|UBASH3A_uc010gpe.3_Silent_p.G282G|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	320	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGGTGATTGGGATCTCACAGC	0.602000														53			4		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294771	42294771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:42294771G>A	uc003xpe.3	-	7	1628	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	SLC20A2_uc010lxl.3_Missense_Mutation_p.T420I|SLC20A2_uc010lxm.3_Missense_Mutation_p.T420I|SLC20A2_uc011lcu.2_Missense_Mutation_p.T222I	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	420					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTAGGACACGGTGTCGCCCAC	0.637000														53			4		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246129	33246129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33246129C>T	uc021vft.1	+	2	742	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	240					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.S240S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGGCTGCTTCCTCGTGGGGC	0.557000														50			16		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53522576	53522577	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:53522576_53522577GG>AA	uc001xai.3	-	9	2276_2277	c.2046_2047CC>TT	c.(2044-2049)gtccag>gtTTag	p.Q683*	DDHD1_uc001xaj.3_Nonsense_Mutation_p.Q690*|DDHD1_uc001xah.3_Nonsense_Mutation_p.Q683*|DDHD1_uc001xag.3_Nonsense_Mutation_p.Q265*|DDHD1_uc001xak.1_Nonsense_Mutation_p.Q79*	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	683	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CAGTGGATCTGGACAGGTGAAA	0.342000														40			4		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097337	220097337	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220097337C>T	uc002vkg.3	+	4	664	c.490C>T	c.(490-492)Cga>Tga	p.R164*	ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Nonsense_Mutation_p.R108*|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.3_5'UTR|ANKZF1_uc002vki.3_Nonsense_Mutation_p.R164*|ANKZF1_uc002vkj.1_Nonsense_Mutation_p.R152*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	164						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)		TTACCCTCATCGAGTTCTTTT	0.537000														85			9		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053897	95053897	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95053897C>T	uc001ydm.2	+	2	408	c.198C>T	c.(196-198)ttC>ttT	p.F66F	SERPINA5_uc010ave.2_Silent_p.F66F|SERPINA5_uc001ydn.1_Silent_p.F66F	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	66					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AGAGCATCTTCTTCTCCCCTG	0.622000														18			8		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817643	43817643	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43817643C>T	uc001zrt.3	+	3	4439	c.3972C>T	c.(3970-3972)tcC>tcT	p.S1324S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1324						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)	GCTCCTTCTCCAAGAGTCCTG	0.488000														45			6		0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600013	42600013	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42600013G>A	uc002osp.3	-	8	794	c.732C>T	c.(730-732)ttC>ttT	p.F244F	POU2F2_uc002osn.3_Silent_p.F228F|POU2F2_uc002osq.3_Silent_p.F228F|POU2F2_uc002osr.2_Silent_p.F244F	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	244	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TGAGGGCCTCGAAGCGGGAAA	0.622000														79			10		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151733	151151733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:151151733G>A	uc011eem.1	+	14	1751	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	PLEKHG1_uc011eel.1_Missense_Mutation_p.G536R|PLEKHG1_uc003qny.1_Missense_Mutation_p.G496R|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G496R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	496					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAGAGAGGAAGGATCTCCCCA	0.493000														33			4		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998367	46998367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46998367G>A	uc002pes.2	-	0	803	c.356C>T	c.(355-357)gCg>gTg	p.A119V	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Missense_Mutation_p.A160T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	119										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCAGCCTCCGCGGCCTGCGT	0.692000														86			10		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771092	229771092	+	Silent	SNP	G	A	A	rs143308460	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:229771092G>A	uc001hts.1	+	3	868	c.732G>A	c.(730-732)ggG>ggA	p.G244G	URB2_uc009xfd.1_Silent_p.G244G	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	244						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCGAGGAGGGATTTTTCAGC	0.592000														63			5		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832816	113832816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113832816C>T	uc002tiu.3	+	4	409	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	IL1F10_uc002tiv.3_Missense_Mutation_p.L112F|IL1F10_uc002tiw.3_Missense_Mutation_p.L104F	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	112						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CGCCTTCAGGCTTGAGGCTGC	0.607000														99			10		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076096	11076096	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11076096C>T	uc003sry.2	+	8	2106	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	PHF14_uc011jxi.2_Nonsense_Mutation_p.R267*|PHF14_uc011jxj.2_Nonsense_Mutation_p.R267*	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	552							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAACTAGCTCGATCTACCAG	0.433000														11			3		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259041	150259041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150259041C>T	uc001euj.3	+	4	1282	c.833C>T	c.(832-834)tCc>tTc	p.S278F	C1orf51_uc001euh.3_Missense_Mutation_p.S278F|C1orf51_uc001eui.3_Missense_Mutation_p.S190F	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	278										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTACTATCTCCTTTAGCCAT	0.557000														84			20		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677348	219677348	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219677348C>T	uc002viz.4	+	3	1154	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	240					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCGTGACCTTCGTCAGATCCA	0.552000														248			69		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47350754	47350754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:47350754C>T	uc010gqb.3	+	12	1114	c.851C>T	c.(850-852)tCa>tTa	p.S284L	PCBP3_uc002zhp.2_Intron|PCBP3_uc002zhq.2_Missense_Mutation_p.S284L|PCBP3_uc002zhs.2_Missense_Mutation_p.S258L|PCBP3_uc002zht.2_Missense_Mutation_p.S274L	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	284					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		atgggccagtcatcaggTAAC	0.547000														31			8		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177295	223177295	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223177295C>T	uc001hnu.2	+	9	2882	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	852					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCAGCTGCTTCATTGAGACAT	0.488000														434			33		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954855	30954855	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30954855C>T	uc003nsh.2	+	1	1154	c.903C>T	c.(901-903)acC>acT	p.T301T	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.T285T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	301	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACACAGCCACCAACTCTGAGT	0.592000														134			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686128	100686128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100686128G>A	uc003uxp.1	+	2	11484	c.11431G>A	c.(11431-11433)Gaa>Aaa	p.E3811K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3811	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTACGAGTGAAAGAAGCAC	0.478000														42			4		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993646	72993646	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72993646G>A	uc002fck.3	-	1	1072	c.399C>T	c.(397-399)atC>atT	p.I133I	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	133					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGACGATCTCCCCGG	0.711000														62			5		0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62007708	62007708	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62007708G>A	uc002jdp.1	-	2	242	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CD79B_uc002jdq.1_Silent_p.F52F|CD79B_uc002jdr.1_Intron	NM_001039933	NP_001035022	P40259	CD79B_HUMAN	Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA.	52	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCCTGGCTATGAAACGTGGGC	0.582000			"""Mis, O"""		DLBCL									25			11		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44475743	44475743	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44475743G>A	uc001cll.3	-	3	624	c.432C>T	c.(430-432)atC>atT	p.I144I	SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Silent_p.I71I|SLC6A9_uc001clm.3_Silent_p.I90I|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.I75I|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Silent_p.I71I|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	144						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P143P(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGATGAGCATGATGAAGTAGG	0.597000														74			11		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767689	148767689	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148767689G>A	uc003wfh.2	-	3	2312	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	ZNF786_uc011kuk.1_Silent_p.I688I|ZNF786_uc003wfi.2_Silent_p.I639I	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGGCCTGTGGATGCGCTGGT	0.562000														107			23		0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587525	37587525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:37587525C>T	uc004ddq.3	+	2	1227	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	382					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTCTTTTCTTCCAGTGTTTCT	0.488000														9			3		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21967627	21967627	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21967627C>T	uc001rfh.3	-	32	4073	c.4053G>A	c.(4051-4053)ggG>ggA	p.G1351G	ABCC9_uc001rfi.1_Silent_p.G1351G	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1351	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACGATGATTTCCCACTGCCAG	0.398000														10			3		0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44105088	44105088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:44105088C>T	uc009yks.1	+	13	1513	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.R457C	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	457							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R457C(2)|p.R457L(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGGTTGGTTTCGCTTTGTCTT	0.567000														62			8		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270127	36270127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36270127C>T	uc010jwf.2	+	5	1265	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	PNPLA1_uc010jwe.1_Missense_Mutation_p.S336L|PNPLA1_uc003olw.1_Missense_Mutation_p.S327L	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	422	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCACCCACTTCACCCAGGCCA	0.602000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			14		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798161	42798161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42798161C>T	uc002otf.1	+	16	4155	c.4115C>T	c.(4114-4116)cCc>cTc	p.P1372L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGGTGCTGCCCTCCCCCACC	0.642000			"""Mis, F, S"""		oligodendroglioma									97			5		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50563091	50563091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50563091G>A	uc003tpg.4	-	8	1102	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	DDC_uc022ade.1_Missense_Mutation_p.P223S|DDC_uc003tpf.4_Missense_Mutation_p.P301S|DDC_uc022adb.1_Missense_Mutation_p.P263S|DDC_uc022adc.1_Missense_Mutation_p.P253S|DDC_uc022add.1_Missense_Mutation_p.P208S|DDC_uc022adf.1_Missense_Mutation_p.P301S	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	301					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CATTTGTGGGGATTAAAGTTG	0.378000														38			4		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2089975	2089975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2089975G>A	uc002fub.1	-	11	3192	c.3137C>T	c.(3136-3138)tCc>tTc	p.S1046F	SMG6_uc010vqv.1_Missense_Mutation_p.S138F|SMG6_uc002fud.2_Missense_Mutation_p.S1015F	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1046					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGATCCAGGGATGTGGGAGG	0.592000														28			6		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612261	158612261	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158612261G>A	uc001fst.1	-	32	4876	c.4677C>T	c.(4675-4677)atC>atT	p.I1559I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1559					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I1559M(2)|p.V1558I(1)		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)					TCCCCAGGTTGATGACGCCAT	0.463000														13			3		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964128	209964129	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209964128_209964129GA>AC	uc001hhq.2	-	6	1075_1076	c.771_772TC>GT	c.(769-774)ggtccc>ggGTcc	p.P258S	IRF6_uc010psm.2_Missense_Mutation_p.P163S	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	258					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCAGGCATGGGACCCAGGTCCC	0.564000										HNSCC(57;0.16)				44			8		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44191958	44191958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44191958C>T	uc003tkl.2	-	2	745	c.275G>A	c.(274-276)gGa>gAa	p.G92E	GCK_uc003tkj.1_Missense_Mutation_p.G91E|GCK_uc003tkk.1_Missense_Mutation_p.G93E	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	92					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCACCTTCTCCCACCTTCAC	0.587000														549			33		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155032808	155032808	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155032808C>T	uc001fgr.1	+	17	2297	c.2196C>T	c.(2194-2196)acC>acT	p.T732T	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Silent_p.T417T|ADAM15_uc010peu.1_Silent_p.T749T|ADAM15_uc001fgx.1_Silent_p.T732T|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.T732T|ADAM15_uc001fgs.1_Silent_p.T732T|ADAM15_uc010pev.1_Silent_p.T742T|ADAM15_uc001fgu.1_Silent_p.T732T|ADAM15_uc001fgv.1_Silent_p.T732T|ADAM15_uc001fgw.1_Silent_p.T732T	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	732					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGGGACCCACCTGCCAGTACA	0.607000														36			11		0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23004504	23004504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:23004504G>A	uc003xcz.1	-	3	544	c.452C>T	c.(451-453)tCc>tTc	p.S151F		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	151					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CATCTCAGGGGAGTTTTTATC	0.493000														164			11		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84459396	84459396	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84459396G>A	uc010chj.3	+	10	1064	c.975G>A	c.(973-975)acG>acA	p.T325T	ATP2C2_uc002fhx.3_Silent_p.T325T|ATP2C2_uc002fhy.3_Silent_p.T342T|ATP2C2_uc002fhz.3_Silent_p.T174T	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	325					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						GTATGTTCACGATCGGGGTCA	0.552000														237			17		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174721469	174721469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:174721469C>T	uc001gjx.3	+	17	2465	c.2188C>T	c.(2188-2190)Cat>Tat	p.H730Y	RABGAP1L_uc001gkb.4_5'UTR|RABGAP1L_uc001gkc.4_Missense_Mutation_p.H37Y|RABGAP1L_uc001gkd.4_Missense_Mutation_p.H56Y	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	730					regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CATAATCTTTCATGTAGCTTT	0.323000														50			7		0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54791948	54791948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:54791948G>A	uc003xrp.3	+	1	388	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	RGS20_uc003xrq.3_Intron|RGS20_uc010lye.3_Intron|RGS20_uc010lyf.3_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.3_5'Flank|RGS20_uc003xrt.3_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	Homo sapiens regulator of G-protein signaling 20 (RGS20), transcript variant 1, mRNA.	99					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAGGCTCCCCGGAGGCGCCTG	0.731000														53			7		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55139785	55139785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55139785G>A	uc010ooe.1	+	9	2221	c.1897G>A	c.(1897-1899)Ggc>Agc	p.G633S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G201S|HEATR8_uc010ood.1_Missense_Mutation_p.G151S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G633S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	633						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGCTCTGGACGGCATCATCAT	0.527000														136			12		0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639686	9639686	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9639686G>A	uc002mlq.3	-	7	1299	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	ZNF426_uc010dws.3_Silent_p.F307F	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTACTGAGTGAAGGCTTTCC	0.443000														36			4		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89083224	89083224	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:89083224C>T	uc021ryf.1	-	41	5892	c.5643_splice	c.e41-1	p.S1881_splice	EML5_uc001xxf.3_Splice_Site_p.S668_splice|EML5_uc021ryg.1_Splice_Site_p.S1881_splice|EML5_uc001xxd.3_Splice_Site_p.S46_splice|EML5_uc001xxe.3_Splice_Site_p.S230_splice	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1873						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCTAGAATACTAGAGGGAAG	0.413000														45			5		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11773064	11773064	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11773064C>T	uc002rbk.1	+	27	5166	c.4866C>T	c.(4864-4866)ctC>ctT	p.L1622L	GREB1_uc002rbp.1_Silent_p.L620L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1622						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCTGGAGCTCGAGCGGAACC	0.572000														33			6		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985280	240985280	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:240985280C>T	uc010zoe.2	-	0	210	c.210G>A	c.(208-210)gaG>gaA	p.E70E	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGTACCAGATCTCTAGGAAAG	0.552000														128			7		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103011069	103011069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103011069G>A	uc002tbw.4	+	9	1402	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	IL18R1_uc010ywd.2_Missense_Mutation_p.D262N|IL18R1_uc010fiy.3_Missense_Mutation_p.D418N|IL18R1_uc010ywc.2_Missense_Mutation_p.D417N	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	418	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ATTTGAAAGGGATGTAGTGCC	0.423000														19			9		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72960726	72960726	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72960726G>A	uc002jmj.4	-	2	216	c.67_splice	c.e2-1	p.P23_splice	C17orf28_uc010wrs.2_Splice_Site|C17orf28_uc002jmk.2_Splice_Site_p.P23_splice	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	23						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCTTCCACGGGCTGTGGGGG	0.612000														34			5		0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	879131	879131	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:879131G>A	uc001abw.1	+	12	1823	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	SAMD11_uc001abx.1_Silent_p.E444E	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	581	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGACGGAGGAGCACCTGCTGA	0.672000														42			7		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480936	95480936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:95480936G>A	uc004asp.1	-	4	2048	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	BICD2_uc004aso.1_Missense_Mutation_p.A664V	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	664	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGTCCACGGCGGGGCCCAG	0.622000														201			17		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171517270	171517270	+	Missense_Mutation	SNP	C	T	T	rs148957159		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:171517270C>T	uc003mbo.1	-	9	1951	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	551							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTTCTCATCTTCGCTGATG	0.522000														131			18		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080169	23080169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:23080169C>T	uc002dll.3	-	15	3257	c.3257G>A	c.(3256-3258)cGg>cAg	p.R1086Q	USP31_uc002dlk.3_Missense_Mutation_p.R358Q|USP31_uc010vca.2_Missense_Mutation_p.R389Q|USP31_uc010bxm.3_Missense_Mutation_p.R374Q	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1086	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGATGAATGCCGTCCACTGCC	0.547000														101			11		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94965340	94965340	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:94965340G>A	uc001tdj.2	-	3	1423	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	TMCC3_uc001tdi.2_Silent_p.F404F	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	435						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGGGTGAGACGAACTTCGCGA	0.488000														55			5		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18180412	18180412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18180412C>T	uc002nhx.1	-	10	1304	c.1253G>A	c.(1252-1254)gGg>gAg	p.G418E	IL12RB1_uc002nhw.1_Missense_Mutation_p.G378E|IL12RB1_uc010xqb.1_Missense_Mutation_p.G378E	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	378	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GGCAAGGCCCCCGTCCTGGCC	0.627000														43			11		0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53931283	53931283	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53931283G>A	uc001sdy.3	-	3	372	c.351C>T	c.(349-351)atC>atT	p.I117I	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Silent_p.I106I|ATF7_uc010sol.2_Silent_p.I106I	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	117	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CTTCTTCTTTGATTTTGATGT	0.483000														32			5		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151107898	151107898	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:151107898C>T	uc003eyp.3	+	35	5607	c.5478C>T	c.(5476-5478)ttC>ttT	p.F1826F	MED12L_uc011bnz.2_Silent_p.F1686F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1826					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCTTTTTCCTTCAGAACC	0.493000														58			4		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15995347	15995347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:15995347G>A	uc002gpo.3	-	21	3115	c.2846C>T	c.(2845-2847)cCa>cTa	p.P949L	NCOR1_uc002gpn.3_Missense_Mutation_p.P965L|NCOR1_uc002gpp.1_Missense_Mutation_p.P856L|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Missense_Mutation_p.P856L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	949					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTTCCAATTGGTATGTTACA	0.433000														52			4		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29498074	29498074	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:29498074G>A	uc002rmy.3	-	10	2884	c.1932C>T	c.(1930-1932)atC>atT	p.I644I		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	644					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TATTCTGCAGGATCTTGTCCT	0.493000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					43			16		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958030	92958030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92958030C>T	uc001yak.3	+	14	1582	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	SLC24A4_uc001yai.3_Missense_Mutation_p.S456F|SLC24A4_uc010twm.2_Missense_Mutation_p.S501F|SLC24A4_uc010auj.3_Missense_Mutation_p.S392F|SLC24A4_uc010twn.2_Missense_Mutation_p.S276F|SLC24A4_uc001yan.3_Missense_Mutation_p.S214F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	520						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATGGCAGTCTCCAACACCATA	0.468000														84			14		0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1501325	1501325	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1501325G>A	uc004cps.3	+	11	1453	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.L290L	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	368						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAGTGTCTGGTGACTGAAG	0.637000														207			17		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32797738	32797738	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32797738G>A	uc011dqf.1	-	9	1886	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	TAP2_uc003ocb.1_Silent_p.F588F|TAP2_uc003occ.3_Silent_p.F588F|TAP2_uc003ocd.3_Silent_p.F588F	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	588	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										TTTCCTGGATGAAGTCATCTG	0.463000														112			6		0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122274297	122274297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:122274297G>A	uc010hri.3	-	3	971	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	PARP9_uc003eff.4_Missense_Mutation_p.H241Y|PARP9_uc011bjs.2_Missense_Mutation_p.H241Y|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.H241Y|PARP9_uc003efh.3_Missense_Mutation_p.H276Y|PARP9_uc003efj.2_Missense_Mutation_p.H241Y	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	276	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTCACCAGGTGAATTTCTTTC	0.428000														88			13		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232263	110232264	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:110232263_110232264GG>AA	uc001tpj.2	-	6	1456_1457	c.1361_1362CC>TT	c.(1360-1362)ccc>cTT	p.P454L	TRPV4_uc001tpg.2_Missense_Mutation_p.P420L|TRPV4_uc021rdp.1_Missense_Mutation_p.P394L|TRPV4_uc001tph.2_Missense_Mutation_p.P407L|TRPV4_uc001tpi.2_Missense_Mutation_p.P347L|TRPV4_uc001tpk.2_Missense_Mutation_p.P454L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	454					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTTCATTGATGGGCTCCACAGC	0.614000														94			7		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529462	5529462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5529462C>T	uc021qcw.1	-	0	1327	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.D443N	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	443								p.P442R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGACAAGATCAGGCAAGTTT	0.537000														50			6		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916565	7916565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7916565C>T	uc002gjt.2	+	10	2332	c.2258C>T	c.(2257-2259)cCc>cTc	p.P753L		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	753	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GAGCTCACTCCCGAGGGTAAG	0.602000														17			3		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2132987	2132987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:2132987G>A	uc003ger.2	-	14	1774	c.1762C>T	c.(1762-1764)Cag>Tag	p.Q588*	POLN_uc010icg.1_Nonsense_Mutation_p.Q36*|POLN_uc010ich.1_Nonsense_Mutation_p.Q120*	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	588					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTAGTAATCTGAATTGGGTGC	0.343000								DNA polymerases (catalytic subunits)						63			4		0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732449	144732449	+	Missense_Mutation	SNP	C	T	T	rs138574970		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144732449C>T	uc003yzd.2	+	0	496	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ZNF623_uc011lkp.1_Missense_Mutation_p.S96L|ZNF623_uc003yzc.2_Missense_Mutation_p.S96L	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S136S(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACGTTTAATTCGGACCTAGTT	0.478000														86			6		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389742	129389742	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129389742G>A	uc021xdy.1	-	3	1376	c.942C>T	c.(940-942)atC>atT	p.I314I	TMCC1_uc003emy.4_5'UTR|TMCC1_uc011blc.2_Silent_p.I135I|TMCC1_uc010htg.3_Silent_p.I200I	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	314						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCCGGGGGATCCCATTCT	0.507000														64			10		0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36001154	36001155	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36001154_36001155CC>TT	uc002nzm.4	-	6	1102	c.919_splice	c.e6-1	p.G307_splice	DMKN_uc002nzj.3_Splice_Site|DMKN_uc002nzl.4_Splice_Site_p.G20_splice|DMKN_uc002nzk.4_Splice_Site|DMKN_uc002nzo.4_Splice_Site_p.G246_splice|DMKN_uc002nzn.4_Splice_Site_p.G246_splice|DMKN_uc002nzu.2_Splice_Site|DMKN_uc002nzv.2_Splice_Site|DMKN_uc002nzw.2_Splice_Site|DMKN_uc002nzq.2_Splice_Site|DMKN_uc002nzp.2_Splice_Site|DMKN_uc002nzr.2_Splice_Site|DMKN_uc002nzs.2_Splice_Site|DMKN_uc002nzt.2_Splice_Site|DMKN_uc010xsw.2_Splice_Site_p.G20_splice|DMKN_uc010xsv.1_Splice_Site|DMKN_uc002nzx.4_Splice_Site|DMKN_uc002nzy.4_Splice_Site|DMKN_uc002nzz.3_Splice_Site_p.G307_splice|DMKN_uc002oaa.4_Splice_Site_p.G307_splice|DMKN_uc002oab.4_Splice_Site_p.G307_splice|DMKN_uc002oac.4_Splice_Site_p.G307_splice	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	307	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGCTGGATCCCTGCAGGGGAA	0.574000											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			3		0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30702320	30702320	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30702320G>A	uc003tbn.3	-	5	932	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CRHR2_uc010kvw.2_Silent_p.F229F|CRHR2_uc010kvx.2_Silent_p.F228F|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Silent_p.F65F|CRHR2_uc003tbo.3_Silent_p.F215F|CRHR2_uc003tbp.3_Silent_p.F256F	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	229					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCATCCGATGAAGAGGAAGA	0.582000														59			5		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31656016	31656016	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31656016C>T	uc003akh.3	+	4	649	c.504C>T	c.(502-504)tcC>tcT	p.S168S	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Silent_p.S147S|LIMK2_uc003akk.3_Silent_p.S147S|LIMK2_uc011aln.2_Silent_p.S85S	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	168	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTCCGTGTCCGTGGAGAGTG	0.552000														73			6		0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598230	85598230	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85598230C>T	uc010ysn.2	+	6	724	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ELMOD3_uc010fgg.2_Non-coding_Transcript|ELMOD3_uc002spf.4_Nonsense_Mutation_p.R128*|ELMOD3_uc002spg.4_Nonsense_Mutation_p.R128*|ELMOD3_uc002sph.4_Nonsense_Mutation_p.R128*|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Non-coding_Transcript	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	128					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCAACTATTCGAAGGACTGG	0.547000														125			33		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111556645	111556645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:111556645G>A	uc010yxk.1	+	6	739	c.515G>A	c.(514-516)gGa>gAa	p.G172E	ACOXL_uc021vmm.1_5'UTR|ACOXL_uc021vmn.1_5'UTR	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	172					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						TTGTACCCAGGAGTCACAGCT	0.507000														86			18		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578107	30578107	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:30578107C>T	uc022bui.1	-	0	366	c.366G>A	c.(364-366)aaG>aaA	p.K122K	CXorf21_uc004dcg.2_Silent_p.K122K	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	122										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CATTATAATTCTTGCAAATAC	0.428000														28			10		0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74762643	74762643	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74762643G>A	uc001xpr.2	-	5	734	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ABCD4_uc001xps.2_Silent_p.F35F|ABCD4_uc010tur.2_Silent_p.F107F|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	194	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCCCCAGGATGAAATACCCGA	0.552000														48			8		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033191	52033191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52033191C>T	uc002pwy.3	-	4	1007	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	SIGLEC6_uc002pwz.3_Missense_Mutation_p.G251S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G215S|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G278S|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G267S|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G256S|SIGLEC6_uc010epa.2_Missense_Mutation_p.G256S|SIGLEC6_uc010epb.2_Missense_Mutation_p.G220S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	267	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)		AGAGCCTGGCCCTCCAGGACA	0.602000														117			15		0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59494600	59494600	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59494600G>A	uc002aga.3	-	15	1995	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	541	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AAGACTTTATGAAAGGCCTGG	0.448000														79			7		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39671762	39671762	+	Silent	SNP	G	A	A	rs142117852	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39671762G>A	uc002hwy.3	-	5	1400	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	KRT15_uc002hwz.3_Silent_p.I305I|KRT15_uc002hxa.3_Silent_p.I238I|KRT15_uc002hxb.1_Silent_p.I238I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	403	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTAAGTAGCGATCTCCTGCT	0.607000														71			12		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904114	5904114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5904114G>A	uc002wmg.3	+	3	1630	c.1324G>A	c.(1324-1326)Ggt>Agt	p.G442S	CHGB_uc010zqz.2_Missense_Mutation_p.G125S	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	442						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAGGTTCTTGGGTGAAGGACA	0.547000														87			4		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76781888	76781888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76781888C>T	uc003hix.3	-	16	2551	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N	PPEF2_uc003hiy.3_Non-coding_Transcript	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	732					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.D732N(2)|p.G731R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGAGGCATCGCCCTCTGGG	0.512000														34			8		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156729833	156729833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156729833C>T	uc021ygm.1	+	6	736	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	CYFIP2_uc011ddn.2_Missense_Mutation_p.P175S|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.P200S|CYFIP2_uc021ygo.1_Missense_Mutation_p.P200S|CYFIP2_uc003lwt.3_Missense_Mutation_p.P79S|CYFIP2_uc011ddp.2_Intron	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	201					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGCAGATCCCCAGTCTAT	0.572000														158			17		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135042273	135042273	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135042273T>A	uc004cbh.2	+	1	831	c.55T>A	c.(55-57)Tat>Aat	p.Y19N		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	19					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTCTGGGGACTATGACATCTG	0.627000														92			6		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171523556	171523556	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:171523556G>A	uc003mbo.1	-	7	1179	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	293	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGCTGACGAAGGGATGCT	0.627000														73			10		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99808772	99808772	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99808772A>T	uc003utx.1	+	29	3532	c.3377A>T	c.(3376-3378)gAg>gTg	p.E1126V	STAG3_uc011kjk.1_Missense_Mutation_p.E1068V|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.E350V	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1126					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)					AAAGAGATGGAGGAAGAAGAT	0.577000														49			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009651	9009651	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9009651C>T	uc002mkp.3	-	38	39279	c.39075G>A	c.(39073-39075)ggG>ggA	p.G13025G	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13027	SEA 7.				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						GCATGTCCTCCCCATACTGCA	0.552000														43			8		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36411312	36411312	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36411312C>T	uc001bzp.3	+	1	384	c.39C>T	c.(37-39)ccC>ccT	p.P13P	EIF2C3_uc001bzn.1_Silent_p.P13P|EIF2C3_uc001bzq.3_5'UTR	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	13					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGCCCAGCCCCTACTCATGG	0.473000														132			23		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541904	133541904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133541904G>A	uc002ttp.3	-	13	2854	c.2480C>T	c.(2479-2481)tCa>tTa	p.S827L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	827							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						CAGGCCAGATGAAGGGAGTAG	0.468000														168			9		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882354	42882354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42882354G>A	uc002ihj.3	-	1	1343	c.832C>T	c.(832-834)Cct>Tct	p.P278S	GJC1_uc002ihk.3_Missense_Mutation_p.P278S|GJC1_uc002ihl.3_Missense_Mutation_p.P278S|GJC1_uc021tyf.1_Missense_Mutation_p.P278S	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	278					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CAAGTGAAAGGATAATTATAA	0.443000														98			20		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445618	78445618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78445618C>T	uc002jyp.1	-	3	1149	c.991G>A	c.(991-993)Gat>Aat	p.D331N		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	331	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGCGTGCCATCCTGGTAGGCC	0.622000														53			6		0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063714	3063714	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3063714C>T	uc010uwo.1	+	0	1258	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	117					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						AGGCCCGTATCGTGCTCACCG	0.647000														111			9		0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481001	43481001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:43481001G>A	uc002iix.3	-	7	1048	c.599C>T	c.(598-600)tCg>tTg	p.S200L	ARHGAP27_uc010dak.3_Missense_Mutation_p.S173L|ARHGAP27_uc010wjl.1_Missense_Mutation_p.S319L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	541					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCCTGCAGCCGAGGTCTTTGA	0.542000														57			7		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170097788	170097788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170097788C>T	uc002ues.3	-	24	3968	c.3755G>A	c.(3754-3756)gGg>gAg	p.G1252E	LRP2_uc010zdf.1_Missense_Mutation_p.G1115E	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1252	LDL-receptor class A 13.				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)	GTCTGGATGCCCATCACATTC	0.493000														67			5		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734840	52734840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:52734840C>T	uc001wzq.3	+	0	410	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	103						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TTGGACAACTCGTTGTGCCAA	0.617000														119			16		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515128	47515128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47515128C>T	uc001cqt.3	+	10	1557	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F	CYP4X1_uc001cqr.3_Missense_Mutation_p.S435F|CYP4X1_uc001cqs.3_Missense_Mutation_p.S371F	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	436						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGGAGAATTCTGATCAGAGA	0.448000														30			5		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756079	52756079	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52756079G>A	uc001sag.3	-	6	1374	c.1254C>T	c.(1252-1254)atC>atT	p.I418I		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	418	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGATCTCGATGTCCAGGC	0.622000														79			8		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103355095	103355095	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103355095C>T	uc001dum.3	-	58	4734	c.4416G>A	c.(4414-4416)ctG>ctA	p.L1472L	COL11A1_uc001duk.3_Silent_p.L656L|COL11A1_uc001dul.3_Silent_p.L1460L|COL11A1_uc001dun.3_Silent_p.L1421L|COL11A1_uc009weh.3_Silent_p.L1344L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1460	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			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)		GAGGACCAATCAGGCCAATTA	0.398000														18			5		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487411	36487411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36487411C>T	uc002hpz.3	-	10	2062	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	681						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCTTCAGCTCGTCCTGTGGG	0.587000														36			8		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22960664	22960664	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22960664C>T	uc003xcy.3	+	0	338	c.30C>T	c.(28-30)ttC>ttT	p.F10F	TNFRSF10C_uc003xcx.3_Non-coding_Transcript|TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	10					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCCTAAAGTTCGTCGTCGTCA	0.721000														28			4		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208483	138208483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:138208483G>A	uc002tva.1	+	13	2935	c.2935G>A	c.(2935-2937)Ggg>Agg	p.G979R	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)		GTCTAGTTGGGGGTCTTGCAG	0.403000														18			4		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715174	165715174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:165715174C>T	uc003qum.4	-	1	673	c.637G>A	c.(637-639)Gac>Aac	p.D213N	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	213										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTGTACCTGTCTGCGCTGGTG	0.622000														66			7		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965756	22965756	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22965756C>T	uc001bfy.3	+	2	679	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	198	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.L197F(1)		autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGGCTCTTCCAGGTGGTGT	0.592000														95			4		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123201215	123201215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123201215C>T	uc001ucy.4	-	0	225	c.70G>A	c.(70-72)Gac>Aac	p.D24N	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	24						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GCAATGAAGTCATCTCGGAAC	0.517000														31			6		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724753	38724753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:38724753C>T	uc001wum.1	-	0	822	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	159	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CATCGCATCTCCTTCCAGCCT	0.677000														48			5		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028325	21028325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21028325C>T	uc010sil.2	+	6	949	c.884C>T	c.(883-885)tCa>tTa	p.S295L	SLCO1B3_uc001rek.3_Missense_Mutation_p.S295L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S295L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	295					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATTTCACTATCATTGCATGTG	0.313000														14			5		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29004951	29004951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:29004951G>A	uc003xhh.4	-	16	2041	c.1982C>T	c.(1981-1983)tCg>tTg	p.S661L	KIF13B_uc003xhj.2_Missense_Mutation_p.S558L	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	661					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCGCTGGGCGAGTGGAAAGA	0.557000														7			4		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137332422	137332422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:137332422G>A	uc003qhj.3	-	2	825	c.392C>T	c.(391-393)cCt>cTt	p.P131L	IL20RA_uc011edl.2_Missense_Mutation_p.P82L|IL20RA_uc003qhk.3_Intron|IL20RA_uc010kgy.1_Intron|IL20RA_uc003qhi.3_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	131	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTCTAAAAAAGGATAGAACCG	0.413000														39			6		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852820	47852820	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47852820C>T	uc003tny.2	-	48	7279	c.7245G>A	c.(7243-7245)gaG>gaA	p.E2415E	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Silent_p.E142E	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2415					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						GGTAGGGGTTCTCAGGGCCTC	0.542000														113			6		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956061	18956061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18956061G>A	uc001mpg.3	-	0	489	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	91					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGGTATGGGGGATACTGATG	0.517000														229			16		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3746849	3746849	+	Missense_Mutation	SNP	G	A	A	rs144396449	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3746849G>A	uc010xhv.2	+	16	2396	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	TJP3_uc010xhs.2_Missense_Mutation_p.R766Q|TJP3_uc010xht.2_Missense_Mutation_p.R730Q|TJP3_uc010xhu.2_Missense_Mutation_p.R775Q|TJP3_uc010xhw.2_Missense_Mutation_p.R785Q	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	780						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAGACGCGGCCCATCTGG	0.657000														16			3		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17607202	17607202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17607202G>A	uc001bai.3	+	14	1712	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	558					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)	GCTGAAGCGGGAGCTGGGCCT	0.592000														93			4		0	0	1	0	0
CST2	1470	broad.mit.edu	37	20	23805958	23805958	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:23805958G>A	uc002wtq.1	-	1	246	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001322	NP_001313	P09228	CYTT_HUMAN	Homo sapiens cystatin SA (CST2), mRNA.	77						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CCCCGCCCACGATCTACACAC	0.547000														73			20		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67917908	67917908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67917908C>T	uc002eur.3	+	28	4302	c.4063C>T	c.(4063-4065)Cgg>Tgg	p.R1355W	EDC4_uc010cer.3_Missense_Mutation_p.R974W|EDC4_uc002eus.3_Missense_Mutation_p.R1085W|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	1355					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCCATCACTCGGGACCACAT	0.607000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			5		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45681903	45681903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45681903C>T	uc003bfy.3	+	1	161	c.134C>T	c.(133-135)cCt>cTt	p.P45L	UPK3A_uc010gzy.3_Missense_Mutation_p.P45L	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	45					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTGGAAAAGCCTCTCTGCATG	0.572000														53			6		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721110	7721110	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7721110G>A	uc002giu.1	+	65	10186	c.10172G>A	c.(10171-10173)tGg>tAg	p.W3391*	DNAH2_uc010cnm.1_Nonsense_Mutation_p.W329*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3391	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCCAGGTGGGCACTGATG	0.642000														36			6		0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137519947	137519947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137519947C>T	uc003lcj.3	+	11	1868	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	KIF20A_uc011cyo.2_Missense_Mutation_p.P440S	NM_005733	NP_005724	O95235	KI20A_HUMAN	Homo sapiens kinesin family member 20A (KIF20A), mRNA.	458	Kinesin-motor.				M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAACCTGGTTCCCTTCCGTGA	0.517000														73			17		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52390704	52390704	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52390704C>T	uc011bef.2	+	21	4029	c.3768C>T	c.(3766-3768)atC>atT	p.I1256I		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1256	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGGACATCAACCAGCAGC	0.592000														36			4		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36303284	36303284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36303284G>A	uc002obx.1	-	2	595	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	193					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGAGTCCGGCTCCTCCTCA	0.662000														81			5		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888493	12888493	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12888493C>A	uc001auk.2	-	1	227	c.31G>T	c.(31-33)Gcc>Tcc	p.A11S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	11										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGCTTCAGGGCCTCACAGCGT	0.627000														112			5		0.00198382	0.00200053	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	T	T	rs145610800		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234545533C>T	uc002vur.3	+	0	411	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	125					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTATTTTTTTCGCATTGCAGG	0.363000														37			4		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683580	159683580	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159683580T>A	uc001ftw.3	-	1	514	c.410A>T	c.(409-411)aAg>aTg	p.K137M	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	137	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAGACTCTTCCTCACCCT	0.547000														254			11		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060264	16060264	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16060264C>T	uc010xov.2	+	0	447	c.447C>T	c.(445-447)acC>acT	p.T149T		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGCCTGTACCTGGGCTGGTG	0.527000														40			10		0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24035517	24035517	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24035517G>A	uc001wkl.2	-	3	778	c.441C>T	c.(439-441)ctC>ctT	p.L147L	AP1G2_uc001wkk.3_Silent_p.L18L|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Silent_p.L147L|AP1G2_uc010aks.3_Silent_p.L18L|AP1G2_uc010akt.3_Silent_p.L18L|AP1G2_uc010tnq.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	147					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGCTGCAGGAGCAGTTTCT	0.592000														61			6		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169616	49169616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49169616G>A	uc003cwe.3	-	3	691	c.392C>T	c.(391-393)cCt>cTt	p.P131L	LAMB2_uc003cwf.1_Missense_Mutation_p.P131L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	131	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGACCGCAGGGATACCTGG	0.557000														34			4		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33582181	33582181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33582181G>A	uc002xbi.2	+	26	3120	c.2803G>A	c.(2803-2805)Gac>Aac	p.D935N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	893						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGAAGAATGACCTGGCCCT	0.677000														43			6		0	0	1	0	0
SLC35E2	9906	broad.mit.edu	37	1	1670428	1670428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1670428G>A	uc001aia.2	-	2	814	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	SLC35E2B_uc001ahh.4_Intron|SLC35E2_uc001ahy.3_Nonsense_Mutation_p.Q131*	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	Homo sapiens solute carrier family 35, member E2 (SLC35E2), transcript variant 1, mRNA.	131						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTTGTGCTGATATAAACAG	0.542000														89			8		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572925	103572926	+	Missense_Mutation	DNP	CC	TT	TT	rs149163506		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:103572925_103572926CC>TT	uc003ykt.2	+	1	674_675	c.566_567CC>TT	c.(565-567)tcc>tTT	p.S189F		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	189					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GTAACATACTCCTATGGGCTCG	0.550000														29			4		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994326	91994326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:91994326C>T	uc004aqo.1	-	17	2454	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.E628K	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	628	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TTAACCCTCTCCTCTGACAGG	0.532000														256			49		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41055511	41055511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:41055511C>T	uc004dfb.3	+	26	4618	c.3985C>T	c.(3985-3987)Cgt>Tgt	p.R1329C	USP9X_uc004dfc.3_Missense_Mutation_p.R1329C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1329					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAACTGTTCGTCAGGTGGC	0.398000														13			12		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113742473	113742473	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113742473C>T	uc002tio.1	+	4	426	c.357C>T	c.(355-357)ttC>ttT	p.F119F	IL36G_uc010fkr.1_Silent_p.F84F	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	119					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCTTCCTTTTCTACCGTGCCA	0.517000														48			10		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926524	22926524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:22926524C>T	uc002dli.3	+	1	817	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	249						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)		GAACGCCATCCGCATCGGCAT	0.617000														101			7		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36776458	36776458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:36776458G>A	uc002xhr.3	-	4	686	c.586C>T	c.(586-588)Ctt>Ttt	p.L196F	TGM2_uc010zvx.2_Missense_Mutation_p.L115F|TGM2_uc010zvy.2_Missense_Mutation_p.L136F|TGM2_uc002xhs.1_Missense_Mutation_p.L172F|TGM2_uc002xht.3_Missense_Mutation_p.L196F|TGM2_uc002xhu.3_Missense_Mutation_p.L196F	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	196					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACATCTAGAAGGATCAGGCAG	0.587000														83			4		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074197	20074197	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:20074197C>T	uc002zri.3	+	1	1140	c.711C>T	c.(709-711)ttC>ttT	p.F237F	DGCR8_uc010grz.3_Silent_p.F237F|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	237	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCTTGAATTTCCCCTACGAGG	0.463000														146			9		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535517	166535517	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166535517T>C	uc002udf.3	+	6	1388	c.1012T>C	c.(1012-1014)Tgc>Cgc	p.C338R	CSRNP3_uc002udg.3_Missense_Mutation_p.C338R	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	338	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D337H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGAATTAGATTGCCAAGGAGA	0.517000														25			3		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378561	19378561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:19378561C>T	uc010tkp.2	+	0	968	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	323					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)		CTGGGAAGTTCCAACATAATC	0.358000														18			3		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4051787	4051787	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4051787G>A	uc003smx.3	+	15	2479	c.2340G>A	c.(2338-2340)cgG>cgA	p.R780R	SDK1_uc010kso.3_Silent_p.R56R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	780	Fibronectin type-III 2.				cell adhesion	integral to membrane		p.R780R(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGTGGGCGGACTAATCAGT	0.517000														168			15		0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202411596	202411596	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202411596G>T	uc001gya.2	+	11	1713	c.1563G>T	c.(1561-1563)gtG>gtT	p.V521V		NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	521					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAATCTAGTGAGGAGTGGCT	0.428000														52			5		8.12818e-05	8.21453e-05	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186158974	186158974	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186158974C>T	uc001grq.1	+	106	17101	c.16872C>T	c.(16870-16872)ttC>ttT	p.F5624F	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.F1076F	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5624					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						AGACCACATTCATAGTTTATA	0.458000														12			4		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981794	61981794	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61981794G>A	uc002yes.2	-	4	1147	c.969C>T	c.(967-969)atC>atT	p.I323I	CHRNA4_uc002yet.1_Silent_p.I147I|CHRNA4_uc010gke.1_Silent_p.I252I|CHRNA4_uc002yev.1_Silent_p.I147I|CHRNA4_uc010gkf.1_Silent_p.I147I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	323					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)	CGAAGACCGTGATGACGATGG	0.607000														77			13		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228523940	228523940	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228523940G>A	uc009xez.1	+	63	16550	c.16506G>A	c.(16504-16506)gcG>gcA	p.A5502A	OBSCN_uc001hsn.3_Silent_p.A5502A|OBSCN_uc001hsr.1_Silent_p.A130A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5502					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)				TGGAAACTGCGAGTTTTGCTG	0.607000														81			11		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71398251	71398251	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:71398251C>T	uc010dfm.3	-	18	2514	c.2514G>A	c.(2512-2514)gaG>gaA	p.E838E	SDK2_uc002jjt.4_5'UTR|SDK2_uc010dfn.2_Silent_p.E517E	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	838	Fibronectin type-III 3.				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						TGGTAACCTCCTCTTCCTGTT	0.602000														44			5		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76867915	76867915	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76867915G>A	uc001oyb.2	+	6	872	c.600G>A	c.(598-600)ggG>ggA	p.G200G	MYO7A_uc010rsl.2_Silent_p.G200G|MYO7A_uc010rsm.1_Silent_p.G189G|MYO7A_uc001oyc.2_Silent_p.G200G	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	200	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			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						CAGCATTTGGGAATGCCAAGA	0.587000														50			6		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073134	34073134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34073134G>A	uc002hjv.2	-	5	1410	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	461					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGGCCAAAGGAACGAGGCAG	0.627000														110			11		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10301820	10301820	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10301820C>T	uc002gmm.2	-	29	4214	c.4119G>A	c.(4117-4119)caG>caA	p.Q1373Q	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1373					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						TGGTTCTCCACTGGGCAACCT	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					182			17		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007585	32007585	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32007585C>T	uc003nze.2	+	5	818	c.711C>T	c.(709-711)atC>atT	p.I237I	CYP21A2_uc003nzf.2_Silent_p.I207I	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	236			V -> E (in AH3; salt wasting form; dbSNP:rs12530380).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GGGATCACATCGTGGAGATGC	0.602000														244			26		0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681565	44681565	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44681565A>T	uc003bet.2	-	3	475	c.342T>A	c.(340-342)gtT>gtA	p.V114V		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	114						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AAAGGTCCAGAACCAGCAGCA	0.527000														168			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769663	13769663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13769663C>T	uc003jfd.2	-	56	9709	c.9667G>A	c.(9667-9669)Gaa>Aaa	p.E3223K	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3223	Stalk (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)					GCTTCCAGTTCTTTACTCAAG	0.423000									Kartagener syndrome					52			7		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504380	151504380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151504380G>A	uc003ilw.3	+	0	1304	c.199G>A	c.(199-201)Gag>Aag	p.E67K	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	67					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGAGGGGCTCGAGGTCATTTC	0.602000														37			4		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94097238	94097238	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94097238C>T	uc001ybv.1	+	28	5318	c.5235C>T	c.(5233-5235)agC>agT	p.S1745S	UNC79_uc001ybs.1_Silent_p.S1723S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1900						integral to membrane		p.D1744D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAACAAGTAGCCATTCCTCAA	0.393000														27			5		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287331	202287331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202287331G>A	uc001gxu.3	+	17	1900	c.1900G>A	c.(1900-1902)Gcc>Acc	p.A634T	LGR6_uc001gxv.3_Missense_Mutation_p.A582T|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.A495T	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	634						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGAGTACGGAGCCCGCTGGGA	0.627000														29			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634510	179634510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179634510C>T	uc021vsy.1	-	36	9023	c.8798G>A	c.(8797-8799)gGa>gAa	p.G2933E	TTN_uc021vsz.1_Missense_Mutation_p.G2887E|TTN_uc021vta.1_Missense_Mutation_p.G2887E|TTN_uc021vtb.1_Missense_Mutation_p.G2887E|TTN_uc002unb.2_Missense_Mutation_p.G2933E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2933	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N2933N(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)			ATGGAGTTTTCCCTGCACAAC	0.468000														58			14		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431258	140431258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140431258C>T	uc003lik.1	+	0	280	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	68	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S68S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTGGTTTCCGAGGGCAAC	0.582000														56			5		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50596996	50596997	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50596996_50596997CC>TT	uc003tpg.4	-	4	680_681	c.479_480GG>AA	c.(478-480)cgg>cAA	p.R160Q	DDC_uc022ade.1_Missense_Mutation_p.R82Q|DDC_uc003tpf.4_Missense_Mutation_p.R160Q|DDC_uc022adb.1_Missense_Mutation_p.R122Q|DDC_uc022adc.1_Missense_Mutation_p.R160Q|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.R160Q|LOC100129427_uc022adg.1_5'Flank	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	160	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCACTTTGGTCCGAGCGGCCAG	0.554000														70			6		0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112244	44112244	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:44112244C>T	uc010qfc.2	+	4	947	c.753C>T	c.(751-753)ttC>ttT	p.F251F	ZNF485_uc010qfd.2_Silent_p.F160F	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGAAAGCCTTCGCTCAGAATG	0.393000														41			4		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147270	129147270	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129147270C>T	uc022cdu.1	+	2	566	c.522C>T	c.(520-522)ttC>ttT	p.F174F	BCORL1_uc010nrd.1_Silent_p.F76F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	174					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						AGAATACTTTCATTTTGGCAA	0.552000														19			14		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850879	22850879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22850879C>T	uc001bft.2	+	17	3978	c.3467C>T	c.(3466-3468)tCt>tTt	p.S1156F	ZBTB40_uc001bfu.2_Missense_Mutation_p.S1156F|ZBTB40_uc009vqi.1_Missense_Mutation_p.S1044F	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1156					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CACCTGGAATCTGAGCACCCA	0.567000														34			11		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848395	215848395	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:215848395G>A	uc001hku.1	-	62	13245	c.12858C>T	c.(12856-12858)atC>atT	p.I4286I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4286	Fibronectin type-III 28.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I4286I(2)		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)		GTTCTGGTGGGATCCAGGAAA	0.428000										HNSCC(13;0.011)				9			4		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553482	135553482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135553482C>T	uc010mzv.3	+	1	734	c.476C>T	c.(475-477)cCa>cTa	p.P159L	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	159					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AAGGCTTTACCACCAATGAGA	0.547000														52			8		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682121	100682121	+	Missense_Mutation	SNP	C	T	T	rs141900729		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100682121C>T	uc003uxp.1	+	2	7477	c.7424C>T	c.(7423-7425)aCc>aTc	p.T2475I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2475	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGGCTGGCACCCTTTCCACA	0.522000														182			31		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126544639	126544639	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:126544639G>A	uc003vlr.2	-	2	1137	c.826C>T	c.(826-828)Cga>Tga	p.R276*	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Nonsense_Mutation_p.R276*|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	276					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATCACTGCTCGAGCATTAGGT	0.413000										HNSCC(24;0.065)				24			4		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1010583	1010583	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1010583C>T	uc001lst.2	+	21	2994	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	AP2A2_uc001lss.3_Silent_p.A926A	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	926					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTAAGGAAGCCGTTTCTCAGA	0.547000														10			4		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406836	50406836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50406836G>A	uc002xwh.4	-	1	2287	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	729					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						GGCATCTAAGGAAGCCATCAT	0.612000														51			9		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704213	33704213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:33704213C>T	uc001uuw.3	-	4	727	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	STARD13_uc001uuu.3_Missense_Mutation_p.E193K|STARD13_uc001uuv.3_Missense_Mutation_p.E83K|STARD13_uc001uux.3_Missense_Mutation_p.E166K|STARD13_uc010abh.1_Missense_Mutation_p.E186K|STARD13_uc021rhz.1_Missense_Mutation_p.E193K|STARD13_uc021ria.1_Missense_Mutation_p.E83K	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	201					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCACTGCTTTCGCTGTGAATG	0.627000														24			6		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128520663	128520663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128520663G>A	uc002tpg.2	-	6	896	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	WDR33_uc002tph.2_Missense_Mutation_p.R233C|WDR33_uc002tpi.2_3'UTR	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	233					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCATGGCAACGAAGAAAGTCC	0.403000														41			5		0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648645	57648645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57648645G>A	uc009zpm.1	-	21	2877	c.2842C>T	c.(2842-2844)Cgt>Tgt	p.R948C	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.R643C|R3HDM2_uc001snr.2_Missense_Mutation_p.R675C|R3HDM2_uc001sns.2_Missense_Mutation_p.R948C|R3HDM2_uc001snt.2_Missense_Mutation_p.R962C	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	948						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTGTTGAGACGAAGGGAGGCA	0.567000														69			5		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345721	24345721	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:24345721C>T	uc010edb.1	-	0		c.529G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		TTGAAATGCTCGTTGTTGTTG	0.453000														103			8		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19329750	19329750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19329750G>A	uc002nlz.3	+	2	199	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	34					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGATGCCAGCGAAAGGGGGCT	0.607000														29			7		0	0	1	0	0
AC2	0	broad.mit.edu	37	1	151993827	151993827	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151993827C>T	uc001ezm.1	+	9		c.2662C>T								Homo sapiens AC2 pseudogene, precursor RNA sequence.																		GGGCTGCAGGCTGACAGAGAA	0.577000														24			3		0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663505	103663505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:103663505G>A	uc011lhk.1	-	2	1209	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L	KLF10_uc011lhj.1_Missense_Mutation_p.P341L	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	352					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGCTGCTGAAGGGGAAAACCC	0.517000														79			9		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680349	6680349	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6680349C>T	uc001aob.4	+	2	999	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	210					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	p.R210*(2)|p.R210L(1)		endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGGTGTTCCGAGATGAGGA	0.507000														34			10		0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150386655	150386655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150386655C>T	uc003qns.3	-	2	588	c.507G>A	c.(505-507)atG>atA	p.M169I	ULBP3_uc011eej.1_Missense_Mutation_p.M44I|ULBP3_uc011eek.1_Missense_Mutation_p.M120I	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	169	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACTTCTCTTTCATCCGCCTGG	0.517000														98			20		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729474	37729474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:37729474G>A	uc003xkm.2	-	3	2902	c.2846C>T	c.(2845-2847)tCt>tTt	p.S949F	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.S278F|RAB11FIP1_uc003xko.1_Missense_Mutation_p.S278F|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	949					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CATGATTGGAGATTTAAAATC	0.458000														73			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766175	13766175	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13766175C>T	uc003jfd.2	-	58	10053	c.10011G>A	c.(10009-10011)gtG>gtA	p.V3337V	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3337	Stalk (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)					GGTCAATTTTCACAGCACTGA	0.493000									Kartagener syndrome					46			6		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647820	51647821	+	Missense_Mutation	DNP	CC	TT	TT	rs144612094	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51647820_51647821CC>TT	uc002pvv.1	+	1	660_661	c.591_592CC>TT	c.(589-594)acccgc>acTTgc	p.R198C	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	198	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.T197T(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCCACCACCCGCTCCTCAGT	0.663000														78			11		0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223934850	223934850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223934850C>T	uc001hob.4	+	4	936	c.712C>T	c.(712-714)Ctt>Ttt	p.L238F	CAPN2_uc010puy.2_Missense_Mutation_p.L160F	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	238	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AGGCTCTCTCCTTGGCTGCTC	0.562000														81			16		0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40746009	40746009	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40746009G>A	uc002onf.3	-	6	881	c.582C>T	c.(580-582)gtC>gtT	p.V194V	AKT2_uc010egs.3_Silent_p.V194V|AKT2_uc010xvj.2_Silent_p.V132V|AKT2_uc010egt.3_Silent_p.V132V|AKT2_uc010egu.2_Silent_p.V132V|AKT2_uc010xvk.1_Silent_p.V194V|AKT2_uc002one.3_Silent_p.V90V	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	194	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTGTGTGAGCGACTTCATCCT	0.622000			A		"""ovarian, pancreatic """									249			40		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189425	44189425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44189425C>T	uc003tkl.2	-	5	1083	c.613G>A	c.(613-615)Gac>Aac	p.D205N	GCK_uc003tkj.1_Missense_Mutation_p.D204N|GCK_uc003tkk.1_Missense_Mutation_p.D206N	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	205	Substrate binding.				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCCACCGTGTCATTCACCATT	0.572000														475			38		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72189926	72189926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72189926G>A	uc002atl.4	-	24	5391	c.4918C>T	c.(4918-4920)Cgc>Tgc	p.R1640C	MYO9A_uc010biq.3_Missense_Mutation_p.R1260C|MYO9A_uc002atn.1_Missense_Mutation_p.R1621C|MYO9A_uc002atk.3_Missense_Mutation_p.R364C|MYO9A_uc002atm.1_Missense_Mutation_p.R364C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1640	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTGAAATGCGATTATTTGAG	0.428000														21			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372516	126372516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:126372516G>A	uc003ifj.4	+	8	10345	c.10345G>A	c.(10345-10347)Gaa>Aaa	p.E3449K	FAT4_uc011cgp.2_Missense_Mutation_p.E1747K|FAT4_uc003ifi.1_Missense_Mutation_p.E927K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3449	Cadherin 33.				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						ATCAGGGAATGAAAATGGTGC	0.463000														20			5		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997267	46997267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46997267C>T	uc002pes.2	-	0	1903	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	486										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCAATACCTCCCCCAGTTTG	0.622000														98			10		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22040791	22040791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:22040791G>A	uc001rfh.3	-	12	1900	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	ABCC9_uc001rfi.1_Missense_Mutation_p.P627L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	627					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.P627S(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGACTCAAAAGGAAGCGAACT	0.393000														37			9		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60885712	60885712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60885712G>A	uc009ynk.3	+	2	263	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	54	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTACCTCAAGGACGGATGGCA	0.617000														128			9		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6195421	6195421	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6195421C>T	uc001amb.2	-	17	2850	c.2739G>A	c.(2737-2739)aaG>aaA	p.K913K	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.	913					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)		TCTGGTCTTCCTTGGAGATGT	0.592000														61			5		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21712069	21712069	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21712069G>A	uc001rfb.3	-	9	1519	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	422					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			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						AGATCATCTCGATCTAAAATA	0.333000														21			6		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016468	23016468	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:23016468C>T	uc002wsr.2	+	0	412	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	116					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTTCGGCTCCGTGCTGTGCC	0.667000														74			13		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113287661	113287661	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113287661G>A	uc001pnz.3	-	2	777	c.456C>T	c.(454-456)gtC>gtT	p.V152V	DRD2_uc010rwv.2_Silent_p.V151V|DRD2_uc001poa.4_Silent_p.V152V|DRD2_uc001pob.4_Silent_p.V152V|DRD2_uc009yyr.1_Silent_p.V152V	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	152					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCATGACGGTGACCCGGCGCT	0.582000														26			4		0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99955944	99955944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:99955944C>T	uc004egd.4	-	6	844	c.488G>A	c.(487-489)gGt>gAt	p.G163D	SYTL4_uc010nnc.3_Missense_Mutation_p.G163D|SYTL4_uc004ege.4_Missense_Mutation_p.G163D|SYTL4_uc004egf.4_Missense_Mutation_p.G163D|SYTL4_uc004egg.4_Missense_Mutation_p.G163D	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	163					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGATGTCACCCATCTGTGT	0.438000														61			19		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079742	44079742	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44079742C>T	uc002rtq.3	+	5	789	c.699C>T	c.(697-699)atC>atT	p.I233I	ABCG8_uc010yoa.2_Silent_p.I233I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	233	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAAAGGAATCCTTATTCTCG	0.612000														289			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089878	9089878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9089878C>T	uc002mkp.3	-	0	2141	c.1937G>A	c.(1936-1938)gGt>gAt	p.G646D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	646	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G646S(1)		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						GACTGGGACACCGTTCGTGGC	0.567000														71			13		0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85529619	85529619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85529619C>T	uc002soy.3	+	4	763	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	180	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TAATAAAGTTCCTGTCGTTCA	0.517000														201			47		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241496659	241496659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241496659G>A	uc010fzd.1	-	1	219	c.94C>T	c.(94-96)Cct>Tct	p.P32S	ANKMY1_uc002vzb.1_Missense_Mutation_p.P32S|ANKMY1_uc002vzc.1_Missense_Mutation_p.P32S|ANKMY1_uc002vyz.1_Intron|ANKMY1_uc002vza.1_Missense_Mutation_p.P32S|ANKMY1_uc002vzd.1_Missense_Mutation_p.P32S|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron|ANKMY1_uc002vzf.3_Intron|DUSP28_uc002vzg.3_5'Flank|DUSP28_uc002vzh.3_5'Flank	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	0							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)		TCGGCAGCAGGGGTCTCGCCG	0.682000											OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			10		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422283	53422283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:53422283C>T	uc001vhi.3	-	0	493	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	PCDH8_uc001vhj.3_Missense_Mutation_p.G97S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	97	Cadherin 1.				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)		GGGGCCTGGCCACACAGCCGC	0.672000														36			11		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406178	144406178	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144406178G>A	uc003yxz.3	-	6	970	c.951C>T	c.(949-951)ttC>ttT	p.F317F	TOP1MT_uc011lkd.2_Silent_p.F219F|TOP1MT_uc011lke.2_Silent_p.F219F|TOP1MT_uc011lkf.2_Silent_p.F112F|TOP1MT_uc010mfd.1_Silent_p.F112F	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	317					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCTTATCGATGAAATACAGGG	0.612000														85			6		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008274	130008274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:130008274G>A	uc010lmd.1	+	13	1767	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	CPA5_uc003vps.2_Missense_Mutation_p.D383N|CPA5_uc003vpt.2_Silent_p.S354S|CPA5_uc010lme.1_Missense_Mutation_p.D383N|CPA5_uc003vpu.1_Missense_Mutation_p.D383N|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	383					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GATCACCGTCGACTGGGCCTA	0.557000														100			26		0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49140834	49140834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49140834G>A	uc003cvx.3	-	4	465	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	QARS_uc011bcd.2_Missense_Mutation_p.R9W|QARS_uc003cvy.3_Missense_Mutation_p.R9W|QARS_uc011bce.2_Missense_Mutation_p.R143W|QARS_uc011bcf.1_Missense_Mutation_p.R154W	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	154					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	p.R154W(2)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCACAGCCCGAGCCTCTCCT	0.522000														83			7		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28914725	28914725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28914725G>A	uc002dro.1	+	20	3128	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E982K|ATP2A1_uc002drp.1_Missense_Mutation_p.E857K	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	982					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.D981D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGGCTCGACGAAATCCTCAA	0.612000														53			15		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055879	92055879	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92055879C>T	uc001xzs.1	-	24	3096	c.2956_splice	c.e24+1	p.K986_splice	CATSPERB_uc010aub.1_Splice_Site_p.K508_splice	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	986					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAACCCTACTCAGTTTCCAGT	0.373000														33			7		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931916	46931916	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46931916G>A	uc003bhw.1	-	0	1152	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	384	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTTGGCGTTGATGGGCGAGT	0.682000														22			6		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022080	34022080	+	Missense_Mutation	SNP	C	T	T	rs121909350		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:34022080C>T	uc010gfc.1	-	1	1374	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	GDF5OS_uc002xcj.3_Missense_Mutation_p.S164L|GDF5_uc002xck.1_Missense_Mutation_p.R378Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	378			R -> Q (in DPS).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCGCCGTTTTCGCCGCTGGCT	0.577000														157			30		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50219775	50219775	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50219775C>T	uc003cyj.3	+	7	900	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SEMA3F_uc003cyk.3_Silent_p.F203F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	234	Sema.				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)		CAGCCATCTTCCGCACACTTG	0.582000														102			4		0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778437	56778437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:56778437G>A	uc003jrm.3	-	0	200	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	33						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TATCATGGAGGGGAACACAGC	0.587000														10			3		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48262926	48262926	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48262926G>A	uc002iqm.3	-	50	4458	c.4332C>T	c.(4330-4332)ccC>ccT	p.P1444P	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1444	Fibrillar collagen NC1.				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)	CAACGTCCAAGGGGGCCACAT	0.607000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							75			15		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059694	152059694	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152059694T>G	uc001ezo.1	-	2	529	c.464A>C	c.(463-465)aAc>aCc	p.N155T		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	155							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTCCACTCTGTTATTTCCAAC	0.453000														36			5		0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18538197	18538197	+	Silent	SNP	C	T	T	rs150017206		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18538197C>T	uc002niy.3	+	1	409	c.96C>T	c.(94-96)atC>atT	p.I32I	SSBP4_uc010ebp.3_Silent_p.I32I|SSBP4_uc002niz.3_Silent_p.I32I	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA.	32	LisH.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						TGCTGCACATCGGTGCCCAGA	0.637000														34			14		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64896946	64896946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64896946G>A	uc001xhb.3	+	12	1696	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MTHFD1_uc010aqe.2_Missense_Mutation_p.E473K|MTHFD1_uc010aqf.3_Missense_Mutation_p.E493K	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	437	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCCTATGGAAGAGGTAAAGTA	0.512000											OREG0022729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			7		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548993	52548993	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:52548993G>A	uc001vfw.2	-	1	520	c.363C>T	c.(361-363)ttC>ttT	p.F121F	ATP7B_uc001vfy.2_Silent_p.F121F|ATP7B_uc010adv.2_Silent_p.F121F|ATP7B_uc001vfx.2_Silent_p.F121F|ATP7B_uc010tgt.1_Silent_p.F121F|ATP7B_uc010tgu.1_Silent_p.F121F|ATP7B_uc010tgv.1_Silent_p.F121F|ATP7B_uc010tgw.1_Silent_p.F89F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	121	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCTGGCCTCGAAGCCCATGT	0.582000									Wilson disease					51			8		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924268	24924268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24924268C>T	uc001ywo.3	+	0	3728	c.3254C>T	c.(3253-3255)gCc>gTc	p.A1085V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1085					cell differentiation|multicellular organismal development|spermatogenesis			p.A1084V(1)		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)		ACTTCTGCTGCCGCCTACATT	0.542000														67			9		0	0	1	0	0
KCTD6	200845	broad.mit.edu	37	3	58487097	58487097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58487097C>T	uc003dkj.4	+	2	569	c.452C>T	c.(451-453)tCc>tTc	p.S151F	KCTD6_uc003dkk.4_Missense_Mutation_p.S151F	NM_001128214	NP_699162	Q8NC69	KCTD6_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA.	151						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		AAGGTCCATTCCTTACTAGAA	0.433000														38			9		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825179	23825179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:23825179C>T	uc003sws.4	+	17	2298	c.2231C>T	c.(2230-2232)cCt>cTt	p.P744L	STK31_uc003swt.4_Missense_Mutation_p.P721L|STK31_uc011jze.2_Missense_Mutation_p.P744L|STK31_uc010kuq.3_Missense_Mutation_p.P721L|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	744	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCAAGCGTCCTTTGGTACGT	0.433000														31			9		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62550251	62550251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62550251G>A	uc001dab.3	+	32	4422	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	INADL_uc009waf.1_Missense_Mutation_p.M1436I|INADL_uc001daa.2_Missense_Mutation_p.M1436I|INADL_uc001dad.3_Missense_Mutation_p.M1133I|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.M220I|INADL_uc009wag.3_Missense_Mutation_p.M220I|INADL_uc010oou.1_Missense_Mutation_p.M109I	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1436					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACAGGAAATGATTATAGAAA	0.468000														66			7		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61495703	61495703	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61495703C>T	uc002jal.4	+	23	3974	c.3951C>T	c.(3949-3951)gcC>gcT	p.A1317A	TANC2_uc010wpe.2_Intron|TANC2_uc002jao.4_Silent_p.A428A	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1317							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTACTAAGGCCCTGGAGCTGA	0.443000														16			7		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212532	100212532	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100212532T>A	uc003uvq.3	+	4	756	c.554T>A	c.(553-555)tTg>tAg	p.L185*	MOSPD3_uc003uvr.3_Nonsense_Mutation_p.L185*|MOSPD3_uc003uvs.3_Nonsense_Mutation_p.L185*|MOSPD3_uc003uvt.3_Nonsense_Mutation_p.L175*	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	185						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCTCTTCTTGCTGACGGGG	0.622000														73			26		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124750327	124750327	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124750327C>T	uc001qbc.3	+	26	4141	c.3972C>T	c.(3970-3972)ctC>ctT	p.L1324L	ROBO3_uc001qbd.2_Silent_p.L249L|ROBO3_uc010sar.2_Silent_p.L373L|ROBO3_uc001qbe.3_Silent_p.L249L|ROBO3_uc001qbf.1_Silent_p.L208L	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1324					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGGCCTGGCTCCCATACAGCA	0.637000														17			4		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623378	74623378	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74623378C>A	uc002axo.3	+	13	1996	c.1602C>A	c.(1600-1602)gcC>gcA	p.A534A	CCDC33_uc002axp.3_Silent_p.A356A|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.A127A|CCDC33_uc002axr.3_Silent_p.A127A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	737							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCCACAGGCCGCTCTGCTGA	0.612000														24			4		0.150653	0.151351	1	1	0
CCS	9973	broad.mit.edu	37	11	66366651	66366651	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66366651C>T	uc001oir.3	+	2	220	c.177C>T	c.(175-177)agC>agT	p.S59S		NM_005125	NP_005116	O14618	CCS_HUMAN	Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA.	59	HMA.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						CTCTACCCAGCCAGGAGGTGC	0.627000														77			5		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692631	100692631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:100692631G>A	uc004axy.3	-	2	1154	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	HEMGN_uc004axz.3_Missense_Mutation_p.S349F	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	349					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATAGTCTTCAGAATGAGGTGT	0.363000														123			11		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26224821	26224821	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26224821G>A	uc003abz.1	+	14	3115	c.2865G>A	c.(2863-2865)caG>caA	p.Q955Q	MYO18B_uc003aca.1_Silent_p.Q836Q|MYO18B_uc010guy.1_Silent_p.Q836Q|MYO18B_uc010guz.1_Silent_p.Q836Q|MYO18B_uc011aka.1_Silent_p.Q109Q|MYO18B_uc011akb.1_Silent_p.Q468Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	955	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCGGCACCAGGGCAAGGACC	0.607000														78			6		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659030	50659030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50659030C>T	uc003bkb.1	-	15	4270	c.3758G>A	c.(3757-3759)gGg>gAg	p.G1253E	TUBGCP6_uc003bka.1_Missense_Mutation_p.G340E|TUBGCP6_uc010har.1_Missense_Mutation_p.G1245E|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1253	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACAGGCTCCCCCAAGCTGAT	0.632000														39			4		0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111494003	111494003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:111494003C>T	uc003pus.3	+	1	624	c.449C>T	c.(448-450)gCt>gTt	p.A150V	SLC16A10_uc003pur.4_Missense_Mutation_p.A150V	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	150					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GTGGGTGCTGCTGTTGGATTT	0.413000														80			7		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785569	111785569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:111785569G>A	uc001tsa.2	+	21	4055	c.3901G>A	c.(3901-3903)Gaa>Aaa	p.E1301K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATCAAGCAGGAACAGATGGA	0.612000														27			5		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798259	7798259	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:7798259T>A	uc001aoi.3	+	15	4106	c.3899T>A	c.(3898-3900)cTc>cAc	p.L1300H	CAMTA1_uc010nzv.1_Missense_Mutation_p.L387H|CAMTA1_uc001aok.4_Missense_Mutation_p.L343H|CAMTA1_uc001aoj.3_Missense_Mutation_p.L256H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.L1300F(1)		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)		AGCCGGGAACTCTCCCCTCCC	0.512000			T	WWTR1	epitheliod hemangioendothelioma									25			7		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332747	70332747	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70332747G>A	uc001oqc.3	-	20	3565	c.3453C>T	c.(3451-3453)gcC>gcT	p.A1151A	SHANK2_uc010rqn.2_Silent_p.A627A|SHANK2_uc001opz.3_Silent_p.A622A|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.	838					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)			AGAGTGCCAGGGCCAGCGGGG	0.642000														72			5		0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482772	178482772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:178482772G>A	uc002ulo.3	-	0	923	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	220					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGATGCTGGCGGATGCCACGC	0.542000														44			4		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131301	17131301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:17131301C>T	uc011awc.2	+	6	3353	c.3257C>T	c.(3256-3258)tCa>tTa	p.S1086L	PLCL2_uc011awd.2_Missense_Mutation_p.S968L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1094					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTGCTGTTTCATGTGGACTG	0.413000														30			8		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646744	4646744	+	Missense_Mutation	SNP	C	T	T	rs145250532	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4646744C>T	uc002fyu.2	+	4	1321	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	ZMYND15_uc002fyv.2_Missense_Mutation_p.R431C|ZMYND15_uc002fyt.2_Missense_Mutation_p.R431C	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	431							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CAGCCTTCTTCGCGGTGGTGC	0.622000														128			7		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920971	46920971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46920971C>T	uc001ndn.4	-	4	757	c.514G>A	c.(514-516)Gac>Aac	p.D172N	LRP4_uc009ylh.2_Missense_Mutation_p.D123N	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	172	LDL-receptor class A 4.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTTTGCAGTCGGTGTCACCG	0.582000														84			11		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230268	156230268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156230268G>A	uc001foc.4	-	14	2406	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	753					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCAGGGGCCGATCCGTGTCA	0.557000														136			15		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129151	152129151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152129151C>T	uc001ezs.1	-	2	489	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	142	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.G142*(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGGAATCTCCGTCTTGTCTC	0.522000														71			8		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8192670	8192670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8192670C>T	uc001qtu.3	+	1	1327	c.242C>T	c.(241-243)tCc>tTc	p.S81F	FOXJ2_uc001qtt.1_Missense_Mutation_p.S81F	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	81					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCCATCAACTCCTCTCCAGCC	0.517000														63			8		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898851	37898852	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37898851_37898852CC>TT	uc002hsr.3	+	2	463_464	c.188_189CC>TT	c.(187-189)tcc>tTT	p.S63F	GRB7_uc002hss.3_Missense_Mutation_p.S63F|GRB7_uc021twu.1_Missense_Mutation_p.S86F|GRB7_uc010cwc.3_Missense_Mutation_p.S63F|GRB7_uc002hst.3_Missense_Mutation_p.S63F	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGCCACCTCCCTCCCCTCTA	0.624000														130			11		0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86018296	86018296	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:86018296G>A	uc001kdd.1	+	6	827	c.789G>A	c.(787-789)acG>acA	p.T263T	RGR_uc001kdc.1_Silent_p.T259T|RGR_uc001kde.1_Silent_p.T221T	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	259					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGTGCCCACGATCAATGCCA	0.542000														66			8		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48757187	48757187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48757187G>A	uc002isl.3	+	25	3814	c.3734G>A	c.(3733-3735)cGa>cAa	p.R1245Q	ABCC3_uc002isn.3_5'UTR	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1245	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGATGATACGAATGATGTCA	0.527000														59			5		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50833529	50833529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50833529C>T	uc001jhz.2	+	5	916	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	CHAT_uc001jhv.1_Missense_Mutation_p.P137S|CHAT_uc001jhx.1_Missense_Mutation_p.P137S|CHAT_uc001jhy.1_Missense_Mutation_p.P137S|CHAT_uc001jia.2_Missense_Mutation_p.P173S|CHAT_uc010qgs.1_Missense_Mutation_p.P137S	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	255					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCACTCCATTCCCACTGACTG	0.572000														24			6		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122439469	122439469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122439469G>A	uc009zxk.3	+	20	3461	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1101							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AATCCCGAGGGATGGAAATCC	0.498000														68			7		0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109521	101109521	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:101109521G>A	uc002bwg.3	-	6	2419	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	LINS_uc002bwd.3_Silent_p.F319F	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	732										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GATTATATGGGAAAAGATTTT	0.318000														52			5		0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822518	45822518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45822518G>A	uc002ilv.1	+	5	1605	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	465					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCTCAGAGGGACGGGGACCA	0.657000														29			5		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105330665	105330665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105330665G>A	uc001kxh.3	+	1	532	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	NEURL_uc021pxn.1_Missense_Mutation_p.R24Q	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	41					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACTTCTCACCGATGCCACCAC	0.652000														196			42		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528508	27528509	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27528508_27528509CA>AC	uc003xga.1	+	5	1602_1603	c.1461_1462CA>AC	c.(1459-1464)ggcagc>ggACgc	p.S488R	SCARA3_uc003xgb.1_Intron	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	488	Collagen-like 1.			S -> I (in Ref. 1; BAA86201).	UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GAGACCCCGGCAGCTTGGGCCC	0.678000														77			7		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451898	76451898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76451898G>A	uc010dhp.2	-	62	10123	c.9998C>T	c.(9997-9999)tCg>tTg	p.S3333L	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATGTTTTCCGATGCTAATCC	0.557000														26			6		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186427719	186427719	+	Silent	SNP	C	A	A	rs146946948		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:186427719C>A	uc003ixw.4	-	5	874	c.750G>T	c.(748-750)tcG>tcT	p.S250S	PDLIM3_uc003ixx.4_Silent_p.S202S|PDLIM3_uc010isi.3_Non-coding_Transcript	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	250						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGAAGGAGCCCGACTGGCGAG	0.632000														53			4		1	1	1	1	0
PYGB	5834	broad.mit.edu	37	20	25255248	25255248	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:25255248G>A	uc002wup.3	+	4	658	c.549G>A	c.(547-549)tgG>tgA	p.W183*		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	183					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CCGATGACTGGCTGCGCTACG	0.652000														67			4		0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12838920	12838920	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12838920C>T	uc004cva.3	+	5	1014	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	PRPS2_uc004cvb.3_Nonsense_Mutation_p.Q288*|PRPS2_uc010nec.3_Nonsense_Mutation_p.Q166*	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	288					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CACCAAGATTCAGGTACTGTC	0.448000														17			5		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561886	145561886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145561886C>T	uc001eob.1	+	9	1682	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	ANKRD35_uc010oyx.1_Missense_Mutation_p.P368L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	525								p.P525A(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGGGACTCCCCGTGCTGAG	0.617000														158			25		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218669221	218669221	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218669221G>A	uc002vgt.2	-	32	5567	c.5169C>T	c.(5167-5169)ttC>ttT	p.F1723F	TNS1_uc002vgr.2_Silent_p.F1709F|TNS1_uc002vgs.2_Silent_p.F1702F|TNS1_uc002vgq.2_Silent_p.F223F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1723						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTTGGAGACGAAGTTGACGA	0.637000														107			6		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693441	42693441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:42693441G>A	uc010ggo.3	+	5	944	c.904G>A	c.(904-906)Gca>Aca	p.A302T	TOX2_uc002xle.4_Missense_Mutation_p.A260T|TOX2_uc010ggp.3_Missense_Mutation_p.A260T|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Missense_Mutation_p.A180T	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GACAGAAGCAGCAAAGAAGGA	0.567000														83			5		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36959481	36959481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:36959481G>A	uc002xib.2	+	11	1335	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	425					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CTCAAATATTGGCCCCTTCCC	0.562000														86			6		0	0	1	0	0
MIR365B	100126356	broad.mit.edu	37	17	29902513	29902513	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:29902513C>T	uc021tus.1	+	0		c.84C>T			mir-108-1_uc021tut.1_Non-coding_Transcript					Homo sapiens microRNA 365b (MIR365B), microRNA.																		CCCTAAAAATCCTTATTGTTC	0.537000														37			5		0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763596	56763596	+	Missense_Mutation	SNP	G	A	A	rs138677398		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56763596G>A	uc003dih.2	-	12	1489	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	ARHGEF3_uc011bew.1_Missense_Mutation_p.S428L|ARHGEF3_uc011bev.1_Missense_Mutation_p.S399L|ARHGEF3_uc003dif.2_Missense_Mutation_p.S434L|ARHGEF3_uc003dig.2_Missense_Mutation_p.S428L|ARHGEF3_uc010hmy.1_Missense_Mutation_p.S226L	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	428					Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGCTTGTAGCGAGTGGGTCTG	0.423000														69			6		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172635073	172635073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172635073G>A	uc001gis.3	+	3	920	c.763G>A	c.(763-765)Gat>Aat	p.D255N	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	255					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.D255N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TACCAGTGCTGATCATTTATA	0.473000														66			8		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022508	51022508	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51022508G>A	uc002pss.3	-	2	599	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	154						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACAGGTACTCGAAGGCCTGCG	0.657000														50			8		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270480	84270480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84270480C>T	uc010voc.2	-	1	733	c.612G>A	c.(610-612)atG>atA	p.M204I	KCNG4_uc002fhu.1_Missense_Mutation_p.M204I	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	204						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						GCAGCCGGTTCATGCACAGGC	0.682000														36			6		0	0	1	0	0
CCDC51	79714	broad.mit.edu	37	3	48474285	48474285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48474285G>A	uc003ctc.3	-	3	801	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	PLXNB1_uc003csx.2_5'Flank|CCDC51_uc021wxn.1_Missense_Mutation_p.R148C|CCDC51_uc003ctd.3_Missense_Mutation_p.R148C	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA.	257						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCTGCTGGCGGGAGTAGCTA	0.617000														89			6		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7520986	7520986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:7520986G>A	uc003jdz.1	+	2	611	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	182					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGCAACACCGGGAGGCAAGGA	0.617000														90			6		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135568	156135568	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156135568G>A	uc003ioq.3	+	1	966	c.477G>A	c.(475-477)aaG>aaA	p.K159K	NPY2R_uc003ior.3_Silent_p.K159K|NPY2R_uc021xtm.1_Silent_p.K159K	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	159					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TAGAGAGCAAGATCTCCAAGC	0.557000														18			3		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	343592	343592	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:343592G>A	uc002cgp.2	-	7	2471	c.2082C>T	c.(2080-2082)acC>acT	p.T694T	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.T694T	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	694	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.P693S(2)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGGTGGCATGGTGGGGTCTT	0.662000														150			18		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234854510	234854510	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234854510T>C	uc002vvh.3	+	6	750	c.710T>C	c.(709-711)tTa>tCa	p.L237S	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	237						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGCTATTTTTTAGCCCAGTAC	0.378000														64			13		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841887	70841887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70841887C>T	uc002ezr.3	-	85	15110	c.14959G>A	c.(14959-14961)Gaa>Aaa	p.E4987K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4988										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)				AATAAGACTTCCACACTGGCT	0.532000														38			6		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98460784	98460784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98460784C>T	uc003upo.3	-	1	514	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	TMEM130_uc011kiq.2_Missense_Mutation_p.V90I|TMEM130_uc011kir.2_Missense_Mutation_p.V109I|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	109						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGGCAGTGACCCAGACAGAG	0.622000														72			5		0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163310176	163310176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:163310176C>T	uc001gcq.1	+	8	929	c.629C>T	c.(628-630)tCc>tTc	p.S210F	NUF2_uc001gcr.1_Missense_Mutation_p.S210F	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	210	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAGGGAAATTCCCAAAAGAAG	0.323000														71			9		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107393942	107393942	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:107393942T>A	uc003veq.3	+	2	598	c.268T>A	c.(268-270)Ttt>Att	p.F90I	CBLL1_uc011kme.2_5'UTR|CBLL1_uc011kmf.2_Missense_Mutation_p.F89I	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	90					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGGACACCTTTTTTGGGACTT	0.284000														31			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063773	9063773	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9063773G>A	uc002mkp.3	-	2	23877	c.23673C>T	c.(23671-23673)ttC>ttT	p.F7891F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7893	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						GGGATGTAGAGAACCAGCTGA	0.498000														37			4		0	0	1	0	0
MED20	9477	broad.mit.edu	37	6	41877043	41877043	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41877043G>A	uc003ork.3	-	2	508	c.387C>T	c.(385-387)gtC>gtT	p.V129V	MED20_uc003orj.3_Silent_p.V64V|MED20_uc011duh.2_Intron|MED20_uc011dui.2_Intron|MED20_uc011duj.2_Silent_p.V64V	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Homo sapiens mediator complex subunit 20 (MED20), mRNA.	129					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCCATTGTGACCGTGCCCA	0.562000														88			13		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434730	42434730	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42434730G>A	uc001zoz.3	-	18	2417	c.2325C>T	c.(2323-2325)gcC>gcT	p.A775A	PLA2G4F_uc010bcq.3_Silent_p.A72A|PLA2G4F_uc001zoy.3_Silent_p.A407A|PLA2G4F_uc001zpa.3_Silent_p.A526A|PLA2G4F_uc010bcr.3_Silent_p.A526A|PLA2G4F_uc010bcs.3_Silent_p.A562A	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	775	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTTACCTGGGGCCAGGTGTG	0.612000														50			5		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44417558	44417558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44417558G>A	uc002oxu.2	-	3	2129	c.2030C>T	c.(2029-2031)tCa>tTa	p.S677L	ZNF45_uc002oxw.2_Missense_Mutation_p.S677L	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	677					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTTCCTGTGTGAATCCTCTGA	0.388000														19			6		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42784408	42784408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42784408C>T	uc003cly.4	-	7	1051	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	323										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTGTTTTTCCCTTTCCAGG	0.562000														136			9		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864597	31864597	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31864597G>A	uc003tcm.2	-	12	1751	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	PDE1C_uc003tcn.1_Silent_p.F430F|PDE1C_uc003tco.2_Silent_p.F490F|PDE1C_uc003tcr.3_Silent_p.F430F|PDE1C_uc003tcs.3_Silent_p.F430F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	430	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)			TGAAATCAATGAAACCTGAAG	0.438000														12			3		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44945471	44945471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44945471G>A	uc003coc.4	+	8	1140	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	356					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R356R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCGCAGGAGCGAAGCCAGGGT	0.627000														69			7		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349187	233349187	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233349187G>A	uc002vsv.2	-	5	1384	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	ECEL1_uc010fya.1_Silent_p.P393P|ECEL1_uc010fyb.1_Silent_p.P100P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	393					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATACCGGTGGGGTGTGGAGC	0.582000														141			9		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610066	47610067	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47610066_47610067GG>AA	uc001cqv.1	+	6	879_880	c.828_829GG>AA	c.(826-831)aaggag>aaAAag	p.E277K	CYP4A22_uc009vyo.3_Missense_Mutation_p.E277K|CYP4A22_uc009vyp.3_Missense_Mutation_p.G225K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	277						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACTACAGAAGGAGGGGGAGCT	0.535000														91			4		0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44005983	44005983	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44005983C>T	uc002xny.3	-	3	205	c.124_splice	c.e3-1	p.V42_splice	DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	42					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TTTTTAACACCTGCCAGGGTC	0.542000														95			26		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196458978	196458978	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:196458978C>A	uc001gtd.1	-	2	325	c.265G>T	c.(265-267)Gga>Tga	p.G89*	KCNT2_uc001gte.1_Nonsense_Mutation_p.G89*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.G89*|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Nonsense_Mutation_p.G89*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.G89*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	89						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATTCATTTCCTTGTGAAGGG	0.308000														52			8		0.00307968	0.00310426	1	1	0
INMT	11185	broad.mit.edu	37	7	30791781	30791781	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30791781C>T	uc003tbs.1	+	0	31	c.15C>T	c.(13-15)ttC>ttT	p.F5F	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.F5F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	5						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AGGGTGGCTTCACTGGGGGTG	0.582000														128			7		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99139496	99139496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99139496G>A	uc001knf.3	-	13	1704	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	RRP12_uc009xvm.3_Missense_Mutation_p.S240F|RRP12_uc010qou.2_Missense_Mutation_p.S461F|RRP12_uc009xvn.3_Missense_Mutation_p.S422F	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	522						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAAATGAGGGGAGAGGCGCAG	0.602000														36			12		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44247922	44247922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44247922C>T	uc003oxi.2	-	4	1658	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	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.	501								p.G501E(2)		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)			GTCATTTTATCCCACAGAGTT	0.577000														123			6		0	0	1	0	0
OSTalpha	200931	broad.mit.edu	37	3	195953991	195953991	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195953991G>A	uc003fwd.3	+	3	489	c.288_splice	c.e3+1	p.T96_splice	OSTalpha_uc011btu.1_Missense_Mutation_p.V97M|OSTalpha_uc010iac.1_5'Flank|OSTalpha_uc003fwe.3_5'Flank	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	96						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		GGCACCCACGGTGAGGCCCCC	0.577000														65			5		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945846	72945846	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72945846C>T	uc021qna.1	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I	P2RY2_uc001otk.3_Silent_p.I214I|P2RY2_uc001otj.3_Silent_p.I214I|P2RY2_uc001otl.3_Silent_p.I214I	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	214					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TTGCCGTCATCCTTGTCTGTT	0.642000														29			5		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75887433	75887433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:75887433C>T	uc021zbv.1	-	10	2418	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E795K|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.E453K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	795	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGAAATATTCAGGAATTACA	0.433000														117			9		0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10382043	10382043	+	Missense_Mutation	SNP	C	T	T	rs138429990		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:10382043C>T	uc003jet.1	+	3	505	c.322C>T	c.(322-324)Cct>Tct	p.P108S	MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	108					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGGAGTTGTTCCTCTTACAGC	0.338000														147			14		0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100865982	100865982	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100865982C>T	uc003uye.3	+	1	612	c.120C>T	c.(118-120)ttC>ttT	p.F40F	ZNHIT1_uc003uyf.3_Non-coding_Transcript	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA.	40							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGACAACTTCCAGGATGACC	0.672000														93			7		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88828842	88828842	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:88828842C>T	uc002stb.2	+	3	535	c.393C>T	c.(391-393)gaC>gaT	p.D131D		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	131						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						AGAGTGCTGACTTTCCGTGCC	0.572000														66			16		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628678	172628678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172628678G>A	uc001gis.3	+	0	494	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	FASLG_uc001git.3_Missense_Mutation_p.E113K	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	113					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGAGCTGGCAGAACTCCGAGA	0.562000														25			5		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73985833	73985833	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73985833C>T	uc021rwe.1	-	4	1452	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K	HEATR4_uc021rwf.1_Silent_p.K321K|HEATR4_uc010tub.1_Silent_p.K368K	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCTGGTCTCTCTTTGCACCAA	0.463000														94			4		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7212938	7212938	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:7212938G>A	uc009xio.2	-	19	2587	c.2496C>T	c.(2494-2496)ttC>ttT	p.F832F	SFMBT2_uc001ijn.2_Silent_p.F832F|SFMBT2_uc010qay.2_Silent_p.F667F	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	832	SAM.				regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGCTTAATGAACCTCACCA	0.557000														101			6		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85521614	85521614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:85521614G>A	uc001tac.3	+	17	4123	c.4012G>A	c.(4012-4014)Gca>Aca	p.A1338T		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1338	IQ 2.									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)		TAATAGTATGGCAGCTGTGGT	0.393000														37			4		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61112093	61112093	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:61112093G>A	uc010qif.1	-	2	393	c.327C>T	c.(325-327)ttC>ttT	p.F109F	FAM13C_uc010qid.2_Silent_p.F4F|FAM13C_uc001jkn.3_Silent_p.F87F|FAM13C_uc001jko.3_Silent_p.F87F|FAM13C_uc010qie.2_Silent_p.F4F|FAM13C_uc001jkp.3_Silent_p.F4F	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	87								p.E109K(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCTGGACTTGAAGTTGCCCA	0.592000														72			14		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854720	53854720	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53854720T>A	uc010ydv.1	+	3	909	c.792T>A	c.(790-792)tgT>tgA	p.C264*	ZNF845_uc010ydw.1_Nonsense_Mutation_p.C264*	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCGTAGATGTCACACTGGCA	0.398000														22			4		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349472	90349472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90349472C>T	uc002bop.4	-	1	635	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	115	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCAGTGGCCTCCTTGCAGGTG	0.612000														49			6		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56650616	56650616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56650616G>A	uc010dcz.2	-	23	3693	c.3575C>T	c.(3574-3576)tCt>tTt	p.S1192F	TEX14_uc002iwr.2_Missense_Mutation_p.S1186F|TEX14_uc002iws.2_Missense_Mutation_p.S1146F|TEX14_uc010dda.2_Missense_Mutation_p.S926F	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1192						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCCTTAAAAGAGCTGTCTGG	0.413000														200			23		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667387	133667387	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133667387G>A	uc003eqa.4	-	7	1372	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	SLCO2A1_uc011blv.2_Silent_p.F185F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	366					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CACCAATGAGGAAGTTGGCAT	0.622000														107			9		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445119	150445119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150445119C>T	uc009wlr.3	+	10	3896	c.3695C>T	c.(3694-3696)cCc>cTc	p.P1232L	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1206L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1232	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGAGATGCACCCACTCATCTA	0.577000														103			6		0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57638321	57638321	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57638321G>T	uc001snp.2	-	9	1008	c.806_splice	c.e9+1	p.P269_splice	STAC3_uc009zpl.2_Splice_Site|STAC3_uc001snq.2_Splice_Site_p.P230_splice|STAC3_uc010srm.1_Splice_Site_p.P83_splice	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	269	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GCCTCTCACGGGAAATCCAGA	0.587000														159			26		7.38237e-10	7.48366e-10	1	1	0
SLC23A3	151295	broad.mit.edu	37	2	220026918	220026918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220026918G>A	uc010zkr.2	-	11	1681	c.1570C>T	c.(1570-1572)Ctt>Ttt	p.L524F	NHEJ1_uc002vjp.4_5'Flank|NHEJ1_uc002vjq.4_Non-coding_Transcript|SLC23A3_uc010zks.2_Missense_Mutation_p.L516F|SLC23A3_uc010fwb.3_Missense_Mutation_p.L399F	NM_001144890	NP_001138362	Q6PIS1	S23A3_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 3 (SLC23A3), transcript variant 3, mRNA.	516					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGCTCAAGCTGTGTGCCT	0.572000														56			6		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428764	190428764	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:190428764G>A	uc002uqp.4	-	6	1299	c.948C>T	c.(946-948)ttC>ttT	p.F316F		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	316					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCATATAAAGGAAAGCAAGAC	0.532000														25			4		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61452568	61452568	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61452568G>A	uc002ydm.3	+	6	348	c.345_splice	c.e6+1	p.G115_splice		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	115	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGCTGGGGGTGAGTATGG	0.627000														42			8		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119554781	119554781	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:119554781G>A	uc001txa.2	+	3	793	c.405G>A	c.(403-405)aaG>aaA	p.K135K		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	135	Lys-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAAAAAGAAGAAGAAAAGTT	0.488000														34			4		0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109416618	109416618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109416618C>T	uc004eom.3	+	6	1172	c.833C>T	c.(832-834)gCt>gTt	p.A278V	TMEM164_uc004eon.2_Missense_Mutation_p.A129V|TMEM164_uc010npq.3_Missense_Mutation_p.A239V	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	278						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TCATACATGGCTGGGCCCTTG	0.507000														31			9		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402493	65402493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65402493C>T	uc001oey.2	+	29	4855	c.4855C>T	c.(4855-4857)Cgc>Tgc	p.R1619C	PCNXL3_uc001oez.2_Missense_Mutation_p.R506C|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1619						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGGGATTTTCGCATCACCTC	0.622000														27			10		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382491	56382491	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56382491G>A	uc002ivx.4	-	29	6346	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F	BZRAP1_uc002ivv.3_Silent_p.F55F|BZRAP1_uc002ivw.3_Silent_p.F57F|BZRAP1_uc010dcs.3_Silent_p.F1765F|BZRAP1_uc010wnt.2_Silent_p.F1816F	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1825	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCCTCCAGGAAGTTGGATG	0.632000														54			4		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222527	27222527	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27222527C>T	uc003nja.3	+	9	1221	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.S145S|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	402					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACTGCCCTCCCAGCTAGACC	0.577000														74			9		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154030	5154030	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5154030C>T	uc001qni.3	+	0	946	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	239						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I239I(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGTGGCTTATCTTCGAGTATC	0.602000														104			12		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928183	6928183	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6928183C>T	uc002mfw.3	+	16	2288	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	EMR1_uc010dvc.3_Silent_p.F685F|EMR1_uc010dvb.3_Silent_p.F698F|EMR1_uc010xji.2_Silent_p.F609F|EMR1_uc010xjj.2_Silent_p.F573F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	750					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.F750F(2)		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)					AGACAGGGTTCATCTGGAGTT	0.498000														116			18		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17369153	17369153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17369153C>T	uc002nfs.1	-	7	1201	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R299Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	363							PDZ domain binding	p.R363W(1)|p.R363R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTCGGCCTCCCGCAGAGCAAG	0.592000														73			4		0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103294527	103294527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:103294527C>T	uc001kta.3	+	9	1320	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	BTRC_uc001ktb.3_Missense_Mutation_p.R367C|BTRC_uc001ktc.3_Missense_Mutation_p.R377C	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	403					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTCCAAAGATCGTTCCATTGC	0.473000														140			19		0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2559870	2559870	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2559870C>T	uc003smf.3	+	0	392	c.375C>T	c.(373-375)ttC>ttT	p.F125F	LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Silent_p.F125F	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	125					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCAAAAAGTTCCACCGCGCGC	0.751000														41			6		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2811636	2811636	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2811636C>T	uc002crk.3	+	10	1656	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	SRRM2_uc002crj.1_Silent_p.L273L|SRRM2_uc002crl.1_Silent_p.L369L|SRRM2_uc010bsu.1_Silent_p.L273L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	369	Pro-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						CCACTCCGCTCCTTGCTGAGC	0.612000														110			8		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11996013	11996013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11996013C>T	uc003wvc.1	-	0	257	c.257G>A	c.(256-258)gGa>gAa	p.G86E	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	86					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGTATTTCCCATATTCTG	0.567000														99			10		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52960048	52960048	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52960048G>T	uc003dgf.3	-	11	1754	c.1131_splice	c.e11+1	p.P377_splice	SFMBT1_uc010hmr.3_Splice_Site_p.P324_splice|SFMBT1_uc003dgg.3_Splice_Site_p.P377_splice|SFMBT1_uc003dgh.3_Splice_Site_p.P377_splice	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	377					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGTCCTCACCGGAGGGAAGCA	0.557000														115			7		3.09899e-07	3.13784e-07	1	1	0
ZNF556	80032	broad.mit.edu	37	19	2878141	2878141	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2878141G>A	uc002lwp.1	+	3	1272	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	ZNF556_uc002lwq.3_Silent_p.E394E	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G394G(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ACACTGGGGAGAAACCTGTAA	0.433000														85			7		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59023011	59023011	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:59023011G>A	uc002qtc.2	-	0	422	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	104					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCATCCCCTGATCTTCAGGC	0.647000														7			3		0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756658	756658	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:756658A>G	uc002kky.3	-	1	391	c.170T>C	c.(169-171)cTt>cCt	p.L57P	YES1_uc002kkz.3_Missense_Mutation_p.L57P	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	57					T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGTCATGGAAAGACTGCTGAA	0.473000														116			18		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014622	53014622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53014622C>T	uc002pzp.4	+	5	1232	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAAGTCATCCCTTACATGCCA	0.428000														57			11		0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304874	20304874	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20304874G>A	uc001bcu.3	-	3	403	c.185_splice	c.e3+1	p.R62_splice	PLA2G2A_uc001bcv.3_Splice_Site_p.R62_splice|PLA2G2A_uc010oda.2_Splice_Site_p.R62_splice|PLA2G2A_uc010odb.2_Splice_Site_p.R62_splice	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.	62					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCTCACCGATCCGTTGCA	0.607000														32			9		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047703	42047703	+	Silent	SNP	G	A	A	rs138905658	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42047703G>A	uc001cgz.4	-	3	3979	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	HIVEP3_uc001cha.4_Silent_p.F922F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	922	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAGGACTCGAAGCTGGACT	0.592000														145			26		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954661	79954661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79954661C>T	uc002kcy.3	+	6	969	c.872C>T	c.(871-873)cCc>cTc	p.P291L	ASPSCR1_uc002kcx.3_Missense_Mutation_p.P291L|ASPSCR1_uc021ufj.1_Missense_Mutation_p.P214L|ASPSCR1_uc002kda.3_Missense_Mutation_p.P214L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.P214L	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	291							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCCAGGATCCCCagcaggag	0.642000			T	TFE3	alveolar soft part sarcoma									95			18		0	0	1	0	0
C20orf43	51507	broad.mit.edu	37	20	55093181	55093181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:55093181C>T	uc010zzf.1	+	9	978	c.871C>T	c.(871-873)Ccg>Tcg	p.P291S	C20orf43_uc002xxt.2_Missense_Mutation_p.P261S|C20orf43_uc002xxu.2_Missense_Mutation_p.P260S|GCNT7_uc010zzg.1_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA.	261										breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	10			Colorectal(105;0.202)			TGGGAAGCCTCCGTGTGGAGC	0.498000														60			9		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258241	48258241	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48258241G>A	uc002eff.1	-	3	845	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ABCC11_uc002efg.1_Silent_p.F165F|ABCC11_uc002efh.1_Silent_p.F165F|ABCC11_uc010vgl.1_Silent_p.F165F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAAGTGCATCGAAAATCAACC	0.512000														39			6		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266730	266730	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:266730G>A	uc001qhw.2	+	6	2313	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q	IQSEC3_uc001qhu.1_Silent_p.Q468Q	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	771	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGTGGTTCAGCAGTTCCACA	0.617000														83			12		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16688711	16688711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:16688711G>A	uc004cxk.3	-	10	1925	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	CTPS2_uc004cxl.3_Missense_Mutation_p.P394L|CTPS2_uc004cxm.3_Missense_Mutation_p.P394L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	394	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCCAGAAAAGGAATCTTCTT	0.398000														67			22		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361760	51361760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51361760C>T	uc021uyi.1	+	3	580	c.539C>T	c.(538-540)tCc>tTc	p.S180F	KLK3_uc002pts.1_Missense_Mutation_p.S180F|KLK3_uc002ptr.1_Missense_Mutation_p.S137F|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	180	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CATGTTATTTCCAATGACGTG	0.547000														142			6		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62200346	62200346	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62200346G>A	uc002yfm.2	-	5	1987	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	365					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGCCCCGCAGGGTCAGCCTGG	0.692000														44			5		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39645853	39645853	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39645853G>A	uc002hwt.3	-	0	264	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	88	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGCCGTTGAAGGAGCCCTCGC	0.632000														70			29		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107956591	107956591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:107956591C>T	uc003hyi.3	-	0	863	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.R53Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	53					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCGCAGATCGATTGGCGGC	0.577000														63			15		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38119797	38119797	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38119797C>T	uc003gtb.3	+	16	3304	c.2946C>T	c.(2944-2946)ttC>ttT	p.F982F	TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Silent_p.F769F|TBC1D1_uc021xnh.1_Silent_p.F79F|TBC1D1_uc021xni.1_Silent_p.F79F|TBC1D1_uc003gtd.3_5'Flank	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	982	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGCTGGGATTCGTAGCCAGAG	0.522000														68			10		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824439	54824439	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:54824439C>T	uc002xxb.2	+	0	652	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	217					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGGTGTTCATCGTCTACTCGG	0.557000														62			16		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266293	266293	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:266293G>A	uc001qhw.2	+	5	2256	c.2256G>A	c.(2254-2256)gaG>gaA	p.E752E	IQSEC3_uc001qhu.1_Silent_p.E449E	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	752	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGAAGGTGGAGCGGCTCATTG	0.652000														8			3		0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136403500	136403500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136403500G>A	uc011mdl.2	+	3	820	c.263G>A	c.(262-264)aGg>aAg	p.R88K	ADAMTSL2_uc004cei.3_Missense_Mutation_p.R88K	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	88	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCCGGGAACAGGACCTGCACG	0.667000														100			18		0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41895768	41895768	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:41895768C>T	uc003bac.3	+	1	97	c.75C>T	c.(73-75)gtC>gtT	p.V25V		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	25					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGGCCTCAGTCCTGTGCCAAC	0.527000														247			25		0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104116342	104116342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:104116342C>T	uc010ouo.2	+	15	2230	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	AMY2B_uc001duq.3_Missense_Mutation_p.R176C|AMY2B_uc001dur.3_Missense_Mutation_p.R176C|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	176					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CAGAGATTGTCGTCTGGTTGG	0.363000														128			5		0	0	1	0	0
GNMT	27232	broad.mit.edu	37	6	42931281	42931281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42931281G>A	uc003otd.3	+	5	731	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	BC040637_uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	Homo sapiens glycine N-methyltransferase (GNMT), mRNA.	242					S-adenosylmethionine metabolic process|protein homotetramerization|protein modification process		folic acid binding|glycine N-methyltransferase activity|glycine binding			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AGTAAGTTCCGGCTCTCCTAC	0.592000														60			11		0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205165	151205165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151205165C>T	uc001exj.3	+	6	1077	c.625C>T	c.(625-627)Cca>Tca	p.P209S	PIP5K1A_uc021oyo.1_Missense_Mutation_p.P197S|PIP5K1A_uc001exi.3_Missense_Mutation_p.P196S|PIP5K1A_uc010pcu.2_Missense_Mutation_p.P197S|PIP5K1A_uc001exk.3_Missense_Mutation_p.P196S|PIP5K1A_uc010pcv.2_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	209	PIPK.				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.P196A(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCTGCTTCCAGGATACTA	0.498000														63			4		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524000	9524000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9524000G>A	uc010dwq.3	-	8	2809	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	ZNF266_uc002mll.3_Missense_Mutation_p.S534F|ZNF266_uc002mlm.3_Missense_Mutation_p.S534F|ZNF266_uc002mln.3_Missense_Mutation_p.S534F|ZNF266_uc002mlo.3_Missense_Mutation_p.S534F	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ATTTCGAAAGGAACTGGAAGA	0.433000														53			7		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548821	50548821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50548821C>T	uc002prn.3	+	4	1358	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	ZNF473_uc002prm.3_Missense_Mutation_p.T374I|ZNF473_uc010ybo.2_Missense_Mutation_p.T362I	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	374	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GCAAAAACTACCTCTGAGTGT	0.473000														64			13		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584130	7584130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7584130G>A	uc003mxp.1	+	23	6914	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E	DSP_uc003mxq.1_Missense_Mutation_p.G1613E|DSP_uc021yle.1_Missense_Mutation_p.G1769E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2212	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCTTCCAAGGAATCAGACAA	0.463000														66			10		0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2940591	2940591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2940591C>T	uc001lwx.3	+	7	1036	c.818C>T	c.(817-819)gCc>gTc	p.A273V	SLC22A18_uc001lwy.3_Missense_Mutation_p.A273V	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	273					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGCTGGAGGCCGCCCAAGCT	0.647000														274			44		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668863	53668863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53668863C>T	uc010eqm.1	-	3	980	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S294S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCACATTCCTTACATTTG	0.408000														152			8		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810752	123810752	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123810752C>T	uc001pzk.1	+	0	429	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTGTGCACTCCTTATGGCAG	0.522000														45			4		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62465666	62465666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:62465666G>A	uc003xuj.3	-	19	1819	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	ASPH_uc011leg.2_Missense_Mutation_p.S488F	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	517					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGGATCTCCGGATTCTATTCC	0.393000														64			13		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50876645	50876645	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50876645C>T	uc003blb.2	+	18	2304	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*	PPP6R2_uc003blc.3_Nonsense_Mutation_p.Q628*|PPP6R2_uc003bky.2_Nonsense_Mutation_p.Q601*|PPP6R2_uc003bla.2_Nonsense_Mutation_p.Q602*|PPP6R2_uc003bkz.2_Nonsense_Mutation_p.Q601*|PPP6R2_uc003bld.2_Nonsense_Mutation_p.Q160*	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	628						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGACCGCATCCAGCCCTTTGA	0.622000														139			27		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288269	62288269	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62288269G>A	uc001ntl.3	-	4	13920	c.13620C>T	c.(13618-13620)tcC>tcT	p.S4540S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4540					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTTAGGAACGGAAATGTCCA	0.413000														47			4		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654160	8654160	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8654160G>A	uc002mkj.1	-	17	2398	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	ADAMTS10_uc002mki.1_Silent_p.I195I|ADAMTS10_uc002mkk.1_Silent_p.I340I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	708	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						AGACGCCCTCGATGGTCTCGC	0.667000														75			6		0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20870883	20870883	+	Missense_Mutation	SNP	C	T	T	rs140019810		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:20870883C>T	uc002rdz.1	+	1	1627	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	351					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCTGCAGCCGCAAGCCGTT	0.731000														16			7		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215055	32215055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32215055C>T	uc011alu.2	+	21	1916	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S	DEPDC5_uc011als.2_Missense_Mutation_p.P572S|DEPDC5_uc003als.3_Missense_Mutation_p.P572S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P572S|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P12S|DEPDC5_uc011alt.2_Missense_Mutation_p.P544S	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	572					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCCAGTGCACCAGGGAGGTT	0.532000														66			4		0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944418	32944418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32944418C>T	uc010juh.3	+	5	2209	c.905C>T	c.(904-906)cCt>cTt	p.P302L	BRD2_uc003ocn.4_Missense_Mutation_p.P302L|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.P182L|BRD2_uc003ocq.4_Missense_Mutation_p.P302L|BRD2_uc021ywf.1_Missense_Mutation_p.P255L	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	302					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCAGCTAGCCCTCCTGGGAGT	0.547000														58			14		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89022423	89022423	+	Silent	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:89022423A>C	uc003hrg.3	-	10	1819	c.1326T>G	c.(1324-1326)gtT>gtG	p.V442V	ABCG2_uc003hrh.3_Silent_p.V442V|ABCG2_uc003hrf.3_Silent_p.V310V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	442	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCACGGCTGAAACACTGCTGA	0.507000														30			3		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897307	6897307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6897307C>T	uc002mfw.3	+	3	424	c.386C>T	c.(385-387)tCc>tTc	p.S129F	EMR1_uc010dvc.3_Missense_Mutation_p.S129F|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Missense_Mutation_p.S129F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	129	EGF-like 2; calcium-binding (Potential).				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)					GGCAATTTCTCCTGTACTGGT	0.493000														28			5		0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38465025	38465025	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38465025G>A	uc001cck.3	-	1	239	c.60C>T	c.(58-60)atC>atT	p.I20I	FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.I20I	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	20					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTCTGTCTGGATGTACTTGC	0.537000														49			11		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940670	113940670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113940670G>A	uc002tjc.3	+	1	820	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E212K|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	213					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.G212V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTCAGGGGAAGACAGCAG	0.632000														46			6		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645246	167645246	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167645246G>A	uc010jjd.3	+	22	4323	c.4323G>A	c.(4321-4323)gcG>gcA	p.A1441A	ODZ2_uc003lzr.4_Silent_p.A1211A|ODZ2_uc003lzt.4_Silent_p.A814A|ODZ2_uc010jje.3_Silent_p.A705A	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)		GCATCATTGCGGGACGCCCCA	0.502000														118			15		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220309382	220309382	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220309382G>A	uc010fwg.3	+	1	396	c.396G>A	c.(394-396)gaG>gaA	p.E132E	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	132					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGACTCAGAGACGGCTGAGG	0.632000														44			7		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119369	133119369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133119369G>A	uc003epn.1	+	0	580	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	148	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CACACGCTCGGGAAACTGGGG	0.612000														15			3		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115231335	115231335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115231335G>A	uc001efe.2	-	2	209	c.161C>T	c.(160-162)gCt>gTt	p.A54V	AMPD1_uc001eff.2_Missense_Mutation_p.A50V	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	21					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	CACTTTTTCAGCAAAGTTGCG	0.408000														90			8		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56094368	56094368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56094368G>A	uc010giw.1	-	3	931	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	CTCFL_uc010gix.1_Missense_Mutation_p.R274C|CTCFL_uc002xym.2_Missense_Mutation_p.R274C|CTCFL_uc010gjb.1_Missense_Mutation_p.R274C|CTCFL_uc010gja.1_Missense_Mutation_p.R274C|CTCFL_uc010gjc.1_Missense_Mutation_p.R274C|CTCFL_uc010gjd.1_Missense_Mutation_p.R274C|CTCFL_uc010gje.3_Missense_Mutation_p.R274C|CTCFL_uc010gjg.3_Missense_Mutation_p.R6C|CTCFL_uc010gjf.3_Missense_Mutation_p.R69C|CTCFL_uc010gjh.2_Missense_Mutation_p.R274C|CTCFL_uc010gji.2_Missense_Mutation_p.R69C|CTCFL_uc010gjj.2_Missense_Mutation_p.R274C|CTCFL_uc021wfe.1_Missense_Mutation_p.R274C|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R6C|CTCFL_uc010gjk.1_Missense_Mutation_p.R274C|CTCFL_uc010gjl.1_Missense_Mutation_p.R274C	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	274					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCATATGACGATTAAAACTT	0.443000														70			12		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39703566	39703566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39703566G>A	uc001rly.3	-	32	4519	c.4099C>T	c.(4099-4101)Cgt>Tgt	p.R1367C	KIF21A_uc001rlv.3_Missense_Mutation_p.R312C|KIF21A_uc001rlw.3_Missense_Mutation_p.R637C|KIF21A_uc001rlx.3_Missense_Mutation_p.R1354C|KIF21A_uc001rlz.3_Missense_Mutation_p.R1314C|KIF21A_uc010skl.2_Missense_Mutation_p.R1330C|KIF21A_uc001rlt.3_5'UTR|KIF21A_uc001rlu.3_5'UTR	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1367					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTACAAGTACGATCTAAAACA	0.323000														10			3		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009409	120009409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:120009409C>T	uc011muc.2	-	0	371	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	39								p.S38C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCTGTCGGGGCCGGAGTCGCC	0.736000														63			8		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053854	32053854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32053854G>A	uc003nzl.2	-	6	3023	c.2821C>T	c.(2821-2823)Cct>Tct	p.P941S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1030	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGAGGGAGGAGGCTCATCG	0.622000														183			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885242	13885242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13885242C>T	uc003jfd.2	-	18	2881	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	947	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTCAGTTTCTTTCTTTTTC	0.428000									Kartagener syndrome					41			4		0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097409	202097409	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202097409C>A	uc001gxj.3	+	1	1234	c.1171C>A	c.(1171-1173)Cgc>Agc	p.R391S		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	391						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CGAGCTGACCCGCCAGACCCT	0.632000														85			4		1	1	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140122567	140122567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:140122567G>A	uc003etn.3	+	2	519	c.329G>A	c.(328-330)aGc>aAc	p.S110N	CLSTN2_uc003etm.2_Missense_Mutation_p.S110N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	110	Cadherin 1.				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						CGTGCCAAGAGCCCCATTGAC	0.562000										HNSCC(16;0.037)				99			8		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980755	75980755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75980755G>A	uc002baw.3	-	2	2744	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	884	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATAGAGTGGGGAGAAATATGG	0.597000														37			5		0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876611	148876611	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148876611C>T	uc011kum.2	+	6	1803	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	ZNF398_uc011kul.2_Silent_p.I378I|ZNF398_uc003wfl.3_Silent_p.I549I	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	549					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L554L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGAGCTTCATCCGCAAGCACC	0.602000														59			6		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7949229	7949229	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:7949229C>T	uc002knn.4	+	5	1217	c.714C>T	c.(712-714)tcC>tcT	p.S238S	PTPRM_uc010dkv.3_Silent_p.S238S|PTPRM_uc010wzl.2_Silent_p.S25S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	238	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGACCAGCTCCCGACGCTTCA	0.468000														43			4		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103090277	103090277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103090277C>T	uc002tbz.4	+	0	516	c.59C>T	c.(58-60)gCt>gTt	p.A20V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	20					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						CTGCTAGTGGCTCTTGAGTGT	0.483000														59			22		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922515	24922515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922515C>T	uc001ywo.3	+	0	1975	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	501	Pro-rich.				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)		CCCAACACCTCCTAGCTCCAC	0.517000														172			11		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121240877	121240877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121240877G>A	uc003eee.4	-	7	1357	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	410	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACTCCCCATGGTACAGTTTTC	0.363000								DNA polymerases (catalytic subunits)						66			5		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421649	50421649	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50421649G>A	uc003daq.3	-	5	668	c.630C>T	c.(628-630)atC>atT	p.I210I	CACNA2D2_uc003dap.3_Silent_p.I210I	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	210					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGTCCGTAGGGATCTGTACAG	0.562000														207			13		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767510	143767510	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:143767510G>A	uc001ejt.3	-	0	372	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	113	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CAGTGCAGATGAAAAACTGGG	0.478000														169			7		0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15025720	15025720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrY:15025720C>T	uc004fsu.1	+	7	937	c.628C>T	c.(628-630)Cct>Tct	p.P210S	DDX3Y_uc010nwv.1_Missense_Mutation_p.P210S|DDX3Y_uc011naq.1_Missense_Mutation_p.P210S|DDX3Y_uc004fsv.2_Missense_Mutation_p.P210S|DDX3Y_uc010nww.1_Missense_Mutation_p.P26S|DDX3Y_uc011nar.1_Missense_Mutation_p.P207S	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.	210	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ACATGCCATTCCTATTATTAA	0.378000														14			3		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222211	50222211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50222211G>A	uc003cyj.3	+	12	1618	c.1420G>A	c.(1420-1422)Gcc>Acc	p.A474T	SEMA3F_uc003cyk.3_Missense_Mutation_p.A443T	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	474	Sema.		A -> G (in dbSNP:rs1046955).		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)		GGTGGATGCAGCCGACGGGCG	0.667000														19			4		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187531446	187531446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:187531446C>T	uc002upq.3	+	21	2458	c.2182C>T	c.(2182-2184)Cgt>Tgt	p.R728C	ITGAV_uc010frs.3_Missense_Mutation_p.R692C|ITGAV_uc010zfv.2_Missense_Mutation_p.R682C	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	728					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)		AGCTGGTCTTCGTTTCAGTGT	0.323000														40			7		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701744	143701744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143701744G>A	uc003wdt.1	+	0	655	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G219R(2)|p.G219*(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCTGTCCTACGGATGCATTCT	0.468000														79			4		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679739	88679739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:88679739C>T	uc002bme.2	-	7	1030	c.724G>A	c.(724-726)Gac>Aac	p.D242N	NTRK3_uc002bmh.2_Missense_Mutation_p.D242N|NTRK3_uc002bmf.2_Missense_Mutation_p.D242N|NTRK3_uc021sua.1_Missense_Mutation_p.D242N|NTRK3_uc010upl.1_Missense_Mutation_p.D144N|NTRK3_uc010bnh.1_Missense_Mutation_p.D242N|NTRK3_uc002bmg.3_Missense_Mutation_p.D242N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	242	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		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)			ACTATCCAGTCCACATCAGGA	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				21			4		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73752875	73752875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73752875G>A	uc002jpg.3	+	36	5175	c.4988G>A	c.(4987-4989)cGg>cAg	p.R1663Q	ITGB4_uc002jph.3_Missense_Mutation_p.R1593Q|ITGB4_uc002jpi.4_Missense_Mutation_p.R1593Q|ITGB4_uc002jpj.3_Missense_Mutation_p.R1646Q	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1663	Fibronectin type-III 4.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGGGAGCGGCCACGGAGG	0.687000														91			12		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049583	69049583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69049583C>T	uc010fdg.3	+	9	1731	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ARHGAP25_uc010yql.2_Missense_Mutation_p.R398C|ARHGAP25_uc002sew.3_Missense_Mutation_p.R430C|ARHGAP25_uc002sex.3_Missense_Mutation_p.R431C	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	437					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AATGCAATCTCGTAAAAGGAC	0.483000														77			12		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123271120	123271120	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123271120C>T	uc003ieh.3	+	77	13785	c.13740C>T	c.(13738-13740)ttC>ttT	p.F4580F	KIAA1109_uc003iem.3_Silent_p.F936F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4580					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						AGGAATTTTTCACACAACAAT	0.413000														18			4		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839781	62839781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62839781G>A	uc002yii.3	+	6	1596	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Missense_Mutation_p.G43E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	411					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)					CTGGGCCTGGGAGAGCCAGGG	0.652000														25			5		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98803137	98803137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:98803137G>A	uc001kmw.2	-	18	2239	c.1987C>T	c.(1987-1989)Ctc>Ttc	p.L663F	SLIT1_uc009xvh.1_Missense_Mutation_p.L673F	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	663					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGTGTGGAGAGGGACTGGAGG	0.647000														137			12		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10774545	10774545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:10774545G>A	uc001qys.2	-	9	1515	c.994C>T	c.(994-996)Cct>Tct	p.P332S		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	332	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATGCTGGTAGGAGGGACTTCA	0.418000										HNSCC(73;0.22)				84			9		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112741	39112741	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39112741C>T	uc003awg.3	+	3	724	c.570C>T	c.(568-570)ggC>ggT	p.G190G		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	190					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.R189Q(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ATGGCCGAGGCTTTGCCCGCC	0.557000														37			14		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61845283	61845283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61845283G>A	uc002yeh.3	-	2	359	c.65C>T	c.(64-66)tCg>tTg	p.S22L		NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	22										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTGATGTAACGAACCATTTTG	0.323000														48			5		0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127982863	127982863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127982863C>T	uc004bpi.3	+	5	579	c.410C>T	c.(409-411)tCc>tTc	p.S137F	RABEPK_uc004bph.2_3'UTR|RABEPK_uc004bpj.3_Missense_Mutation_p.S86F|RABEPK_uc004bpk.3_Missense_Mutation_p.S137F	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	137					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CCCCCACCATCCCCAAGAACA	0.572000														68			4		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79324609	79324609	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:79324609G>A	uc002beq.3	-	6	1383	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RASGRF1_uc002bep.3_Silent_p.F336F|RASGRF1_uc010blm.1_Silent_p.F258F|RASGRF1_uc002ber.4_Silent_p.F336F	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	336	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTTGCGGACGAACTCTTGGT	0.587000														47			5		0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418855	135418855	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:135418855C>T	uc003vtd.3	-	2	656	c.390G>A	c.(388-390)ctG>ctA	p.L130L	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Silent_p.L130L	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	130						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTGTGTAGGCCAGGGTCAGCA	0.612000														52			7		0	0	1	0	0
SRY	6736	broad.mit.edu	37	Y	2655388	2655388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrY:2655388C>T	uc004fqg.1	-	0	405	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_003140	NP_003131	Q05066	SRY_HUMAN	Homo sapiens sex determining region Y (SRY), mRNA.	86	Sufficient for interaction with KPNB1.				cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|prostate(1)	2						CTCTGAGTTTCGCATTCTGGG	0.502000									Swyer syndrome					9			5		0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150788865	150788865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150788865G>A	uc001evr.2	-	18	2021	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	ARNT_uc010pck.2_Missense_Mutation_p.P96L|ARNT_uc001evs.2_Missense_Mutation_p.P592L|ARNT_uc009wmd.2_Missense_Mutation_p.P592L|ARNT_uc009wmb.2_Missense_Mutation_p.P593L|ARNT_uc009wmc.2_Missense_Mutation_p.P605L	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	607					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	p.P607S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTACAGGAGGGGCTAGGCC	0.478000			T	ETV6	AML									36			8		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043426	20043426	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20043426G>A	uc002dgu.1	-	1	855	c.693C>T	c.(691-693)ttC>ttT	p.F231F	GPR139_uc010vaw.1_Silent_p.F138F	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	231						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGGTAATGGTGAACAAGATGG	0.517000														36			7		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219248997	219248997	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219248997T>C	uc002vhv.3	+	2	522	c.182T>C	c.(181-183)tTc>tCc	p.F61S	SLC11A1_uc010zkb.1_Missense_Mutation_p.F61S|SLC11A1_uc010fvp.1_Missense_Mutation_p.F61S|SLC11A1_uc010fvq.1_5'UTR|SLC11A1_uc010zkc.1_5'UTR|SLC11A1_uc002vhu.1_Intron|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	61	Pro/Ser-rich.				L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGCCTTCACGGGGCCT	0.602000														135			6		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356579	37356579	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37356579G>A	uc001caz.2	-	1	369	c.234C>T	c.(232-234)acC>acT	p.T78T	GRIK3_uc001cba.1_Silent_p.T78T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	78					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATAGGTCAAGGTTGTGTTGG	0.547000														53			7		0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281976	71281977	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:71281976_71281977GG>AA	uc002jjn.3	-	1	810_811	c.663_664CC>TT	c.(661-666)gtcctc>gtTTtc	p.L222F	CDC42EP4_uc002jjo.3_Missense_Mutation_p.L222F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.L152F|CDC42EP4_uc021ucn.1_Missense_Mutation_p.L222F	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	222					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ATGATGCTGAGGACGTCACCCA	0.644000														92			4		0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110282108	110282108	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110282108G>A	uc001dyo.2	-	3	442	c.132C>T	c.(130-132)gaC>gaT	p.D44D	GSTM3_uc001dyp.2_Silent_p.D41D|GSTM3_uc010ovv.2_Silent_p.D44D	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	44	GST N-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTCGATCATAGTCAGGAGCTG	0.463000														256			56		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811724	32811724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:32811724C>T	uc001utx.3	+	43	6515	c.6019C>T	c.(6019-6021)Cag>Tag	p.Q2007*	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2007					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)		GGACAGAATTCAGGCTTGTAC	0.537000														23			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060710	9060710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9060710C>T	uc002mkp.3	-	2	26940	c.26736G>A	c.(26734-26736)atG>atA	p.M8912I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8914	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						AGGTGATATTCATACTGGGAG	0.498000														41			9		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54818764	54818764	+	Silent	SNP	G	A	A	rs145397246		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54818764G>A	uc002qfe.3	-	6	954	c.834C>T	c.(832-834)gtC>gtT	p.V278V	LILRA5_uc002qff.3_Silent_p.V266V	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	278					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAATCCCAAGGACCACCAGGA	0.532000														61			9		0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69263029	69263029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:69263029C>T	uc004dxt.1	-	4	543	c.537G>A	c.(535-537)atG>atA	p.M179I		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	179						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CCACAATGACCATGTTGCCTG	0.537000														8			6		0	0	1	0	0
NT5C3	51251	broad.mit.edu	37	7	33059300	33059300	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:33059300A>T	uc003tdk.3	-	5	569	c.492T>A	c.(490-492)gcT>gcA	p.A164A	AVL9_uc011kai.2_Intron|NT5C3_uc022abo.1_Silent_p.A113A|NT5C3_uc003tdi.3_Silent_p.A125A|NT5C3_uc003tdj.3_Silent_p.A125A	NM_001002010	NP_001159590	Q9H0P0	5NT3_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III (NT5C3), transcript variant 1, mRNA.	164					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	p.A164S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14			GBM - Glioblastoma multiforme(11;0.0894)			CTTTTGGTAAAGCTTGCTGAA	0.313000														59			5		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848134	29848134	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29848134G>A	uc002kxl.3	-	5	2387	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	FAM59A_uc002kxk.2_Silent_p.F776F	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	777										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						AGGAGGCAGAGAAGATGTCCT	0.552000														30			7		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925290	47925290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47925290G>A	uc003tny.2	-	17	3233	c.3199C>T	c.(3199-3201)Ctc>Ttc	p.L1067F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1067	REJ.				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						TTACCAGAGAGGTGAGGGTCA	0.552000														91			12		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98165056	98165056	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:98165056A>T	uc001drv.3	-	5	668	c.531T>A	c.(529-531)ccT>ccA	p.P177P	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	177					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.L176L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCTGGGGGAGGCAGCGAAG	0.428000														36			4		0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99623813	99623813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99623813C>T	uc001kos.3	+	2	331	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	Homo sapiens golgin A7 family, member B (GOLGA7B), mRNA.	89						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						CTTCATCTTCCTCTGCATGGA	0.617000														32			4		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348617	3348617	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3348617G>A	uc001akf.3	+	15	3691	c.3609G>A	c.(3607-3609)gaG>gaA	p.E1203E	PRDM16_uc001ake.3_Silent_p.E1203E|PRDM16_uc009vlh.3_Silent_p.E903E|PRDM16_uc001akc.3_Silent_p.E1202E	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1203	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)		GAGCAGCTGAGGAAGCATTTG	0.522000			T	EVI1	"""MDS, AML"""									82			13		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162324	41162324	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41162324G>A	uc010jxm.1	-	2	803	c.624C>T	c.(622-624)tcC>tcT	p.S208S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	208					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCACTGTCTGGGACCCCATGG	0.617000														34			7		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36091478	36091478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:36091478G>A	uc004ddk.1	+	3	599	c.413G>A	c.(412-414)aGa>aAa	p.R138K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	138						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						GAGACTATAAGAAGGTGAGAG	0.353000														16			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493061	128493061	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128493061T>C	uc003vnz.4	+	36	6393	c.6184T>C	c.(6184-6186)Ttc>Ctc	p.F2062L	FLNC_uc003voa.4_Missense_Mutation_p.F2029L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2062					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						GGTGGCAGAGTTCATCGTGGA	0.637000														63			3		0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047912	86047912	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:86047912G>A	uc001dle.3	+	2	803	c.579G>A	c.(577-579)acG>acA	p.T193T	CYR61_uc021opf.1_Silent_p.T126T	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	193					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of ERK1 and ERK2 cascade|regulation of cell growth|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGGAGTTGACGAGAAACAATG	0.527000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			6		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034437	58034437	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:58034437C>T	uc001nmq.1	-	0	1296	c.894G>A	c.(892-894)agG>agA	p.R298R		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAAGGCAGTTCCTGGTAAGAA	0.493000														54			5		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83949024	83949024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83949024C>T	uc002fgz.3	+	4	1432	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	471					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TACCTCGGCTCCAAGATCATC	0.582000														38			4		0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42671582	42671582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:42671582G>A	uc002rsn.3	-	1	1399	c.803C>T	c.(802-804)tCt>tTt	p.S268F	KCNG3_uc002rsm.3_Missense_Mutation_p.S257F	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	268						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						CATCAACACAGAGATGTAATA	0.443000														79			4		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70489977	70489977	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:70489977C>T	uc001xlt.2	+	10	1386	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SMOC1_uc001xls.2_Silent_p.F368F	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	368	EF-hand 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACTGGTATTTCAGCCAGCTGG	0.557000														77			14		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290767	141290767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:141290767G>A	uc022cfj.1	-	0	1007	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	MAGEC2_uc004fbu.2_Missense_Mutation_p.A336V	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	336	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTCAAAGCATCCTTGTA	0.473000										HNSCC(46;0.14)				60			12		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37892461	37892461	+	Missense_Mutation	SNP	G	A	A	rs142113268		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37892461G>A	uc003asx.1	-	12	2071	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.S3L|CARD10_uc003asw.1_Missense_Mutation_p.S399L|CARD10_uc003asy.1_Missense_Mutation_p.S685L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	685					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTACCCTTCGAGTCCATCAG	0.637000														53			5		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966204	87966204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:87966204G>A	uc001kdl.1	-	2	538	c.437C>T	c.(436-438)cCc>cTc	p.P146L	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	146						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGGCGGACGGGTGGTCTCGA	0.622000										Multiple Myeloma(13;0.14)				36			5		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37985721	37985721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37985721C>T	uc002hsu.3	-	2	144	c.82G>A	c.(82-84)Gac>Aac	p.D28N	IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.D28N|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.D28N|IKZF3_uc010cwf.3_Missense_Mutation_p.D28N|IKZF3_uc010cwg.3_Missense_Mutation_p.D28N|IKZF3_uc002hsw.3_Missense_Mutation_p.D28N|IKZF3_uc002hsx.3_Missense_Mutation_p.D28N|IKZF3_uc002hsy.3_Missense_Mutation_p.D28N|IKZF3_uc002hsz.3_Missense_Mutation_p.D28N|IKZF3_uc002hta.3_Missense_Mutation_p.D28N|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.D28N|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	28					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAACTGTAGTCATTCAAAACC	0.368000														51			12		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43930062	43930062	+	Missense_Mutation	SNP	C	T	T	rs138656425	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43930062C>T	uc002xnn.2	-	3	852	c.665G>A	c.(664-666)gGg>gAg	p.G222E	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.G170E|MATN4_uc002xnr.1_Missense_Mutation_p.G222E	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	263	EGF-like 1; incomplete.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCCATGGGTCCCTTCAGCACA	0.527000														30			3		0	0	1	0	0
FLJ31813	326332	broad.mit.edu	37	10	51808081	51808081	+	RNA	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51808081C>A	uc001jiz.1	-	5		c.1772G>T								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		GCTGTACGCCCAAAAAGATTA	0.408000														113			15		6.72482e-11	6.82207e-11	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176762734	176762734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176762734G>A	uc001gkz.3	+	19	6223	c.5059G>A	c.(5059-5061)Gac>Aac	p.D1687N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1687	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCCCCAGTGACCCCGTGAT	0.473000														46			7		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590287	140590287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140590287C>T	uc003liz.3	+	0	1997	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	PCDHB12_uc011dak.2_Missense_Mutation_p.S266L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	603	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.726000														173			9		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120593413	120593413	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120593413G>A	uc001txo.3	-	28	3436	c.3423C>T	c.(3421-3423)atC>atT	p.I1141I	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1141					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)					CCAGCTTCCGGATCTCCTCCT	0.522000														89			7		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215278924	215278924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:215278924C>T	uc002vet.2	+	1	137	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	VWC2L_uc010zjl.1_Missense_Mutation_p.L3F	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	3						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GGGGATGGCTCTTCATATTCA	0.433000														28			8		0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24758684	24758684	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:24758684G>A	uc010kus.1	-	3	646	c.558C>T	c.(556-558)atC>atT	p.I186I	DFNA5_uc003sxa.1_Silent_p.I186I|DFNA5_uc010kut.1_Silent_p.I22I	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	186					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCTTGGTCTGGATGCCCACGA	0.582000														98			33		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167082994	167082994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167082994C>T	uc001geb.1	+	1	174	c.158C>T	c.(157-159)cCc>cTc	p.P53L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	53					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTCATGGAACCCATTCACCTC	0.458000														139			22		0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54900748	54900748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:54900748G>A	uc003xru.3	-	4	715	c.392C>T	c.(391-393)cCt>cTt	p.P131L	TCEA1_uc003xrv.3_Missense_Mutation_p.P110L|TCEA1_uc011ldw.2_Intron|TCEA1_uc003xrw.1_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.	131					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TGGTGCCCGAGGAAAGGATGA	0.463000			T	PLAG1	salivary adenoma									20			3		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588539	39588539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39588539G>A	uc001uwy.3	-	10	1723	c.850C>T	c.(850-852)Cct>Tct	p.P284S	PROSER1_uc001uwz.3_Missense_Mutation_p.P262S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	284	Pro-rich.																GATGCAGTAGGAACAGGAGTT	0.478000														28			6		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290969	141290969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:141290969C>T	uc022cfj.1	-	0	805	c.805G>A	c.(805-807)Gag>Aag	p.E269K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E269K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	269	MAGE.					cytoplasm|nucleus		p.E269*(2)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTAGGCTCCCCATAGACG	0.527000										HNSCC(46;0.14)				66			8		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067525	3067525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:3067525C>T	uc002klp.3	-	37	5127	c.4793G>A	c.(4792-4794)gGa>gAa	p.G1598E	MYOM1_uc002klq.3_Missense_Mutation_p.G1502E	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1598	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			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						AGGCGGGTCTCCCCACACGTT	0.527000														40			4		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340695	220340695	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:220340695G>A	uc010puk.1	-	25	3191	c.3027C>T	c.(3025-3027)ctC>ctT	p.L1009L	RAB3GAP2_uc021pjf.1_Silent_p.L1009L|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.L589L	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1009					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCAAGACATCGAGCTCAAGGC	0.408000														26			4		0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74009849	74009849	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74009849C>T	uc001xol.1	+	2	954	c.756C>T	c.(754-756)gtC>gtT	p.V252V	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Intron	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	314					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CGGCTGCTGTCGTCATCAACG	0.567000														80			16		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397292	51397292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51397292C>T	uc001zyy.3	-	0	182	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	28										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CCTGCATATCCGTTGACCCAC	0.522000														53			22		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	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														35			5		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26689584	26689584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26689584G>A	uc002rhk.3	-	35	4625	c.4498C>T	c.(4498-4500)Cgg>Tgg	p.R1500W	OTOF_uc010yla.2_Missense_Mutation_p.R230W|OTOF_uc002rhh.3_Missense_Mutation_p.R733W|OTOF_uc002rhi.3_Missense_Mutation_p.R810W|OTOF_uc002rhj.3_Missense_Mutation_p.R733W	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1500	C2 4.				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)					AGTCTCACCCGGACCACATAG	0.587000														51			5		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098483	144098483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:144098483G>A	uc022aoj.1	-	3	500	c.500C>T	c.(499-501)cCc>cTc	p.P167L		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	167					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTCTTTGTGGGGAGCCCTGGA	0.612000														34			4		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776069	5776069	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5776069C>T	uc001mbu.3	+	0	147	c.99C>T	c.(97-99)ttC>ttT	p.F33F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCTTCCCATTCTGCTCTATGT	0.443000														11			4		0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41247759	41247759	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41247759C>A	uc001znh.2	+	2	602	c.582C>A	c.(580-582)taC>taA	p.Y194*	CHAC1_uc010uct.1_Nonsense_Mutation_p.Y149*	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 1 (E. coli) (CHAC1), transcript variant 1, mRNA.	194					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACCCTGGTTACCTGGGCCCTG	0.592000														110			8		0.000157383	0.000158986	1	1	0
HOOK2	29911	broad.mit.edu	37	19	12882216	12882216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12882216G>A	uc002muy.2	-	7	766	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	HOOK2_uc002muz.2_Missense_Mutation_p.R199W	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	199	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTACCTGCCGCTCCAGATCC	0.597000														21			4		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191380	23191380	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23191380C>T	uc009vqj.1	+	4	1123	c.978C>T	c.(976-978)tcC>tcT	p.S326S	EPHB2_uc001bge.3_Silent_p.S326S|EPHB2_uc001bgf.3_Silent_p.S326S|EPHB2_uc010odu.2_Silent_p.S326S|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	326	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCATCCCCTCCGCGCCCCAGG	0.652000														85			7		0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9831593	9831593	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9831593G>A	uc003bsx.1	-	2	810	c.262C>T	c.(262-264)Cga>Tga	p.R88*	TADA3_uc010hcn.1_Nonsense_Mutation_p.R88*|TADA3_uc003bsy.3_Nonsense_Mutation_p.R88*|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	88					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGGTCTCGACCCAGCTTC	0.557000														79			7		0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150052042	150052042	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150052042A>T	uc003lss.2	+	5	1152	c.565A>T	c.(565-567)Aac>Tac	p.N189Y	MYOZ3_uc003lsr.2_Missense_Mutation_p.N189Y	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	189	Binding to ACTN2.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGCCCCAACGACTACCG	0.652000														35			5		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692059	12692059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12692059G>A	uc002mtz.2	-	4	959	c.830C>T	c.(829-831)cCc>cTc	p.P277L		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	277					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						ACATTTGTAGGGTTTCTCTCC	0.418000														54			10		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71748026	71748026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71748026G>A	uc010fen.3	+	11	1282	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	DYSF_uc010fei.3_Missense_Mutation_p.E380K|DYSF_uc010feh.3_Missense_Mutation_p.E349K|DYSF_uc002sig.4_Missense_Mutation_p.E349K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E380K|DYSF_uc010fee.3_Missense_Mutation_p.E349K|DYSF_uc010fef.3_Missense_Mutation_p.E380K|DYSF_uc002sie.3_Missense_Mutation_p.E349K|DYSF_uc010feo.3_Missense_Mutation_p.E381K|DYSF_uc010fej.3_Missense_Mutation_p.E350K|DYSF_uc010fel.3_Missense_Mutation_p.E350K|DYSF_uc010fem.3_Missense_Mutation_p.E350K|DYSF_uc002sif.3_Missense_Mutation_p.E350K|DYSF_uc010fek.3_Missense_Mutation_p.E381K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	349	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCTGGGGACGAAGCGCCTGT	0.542000														79			5		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687390	8687390	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8687390C>T	uc001quo.1	-	5	669	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	168	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTTGGGCTCCCCTACATCCC	0.403000														56			7		0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	883151	883151	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:883151C>T	uc021zym.1	+	4	672	c.652C>T	c.(652-654)Caa>Taa	p.Q218*	SUN1_uc021zyl.1_Nonsense_Mutation_p.Q218*|SUN1_uc010ksa.1_Nonsense_Mutation_p.Q239*|SUN1_uc003sje.1_Nonsense_Mutation_p.Q218*|SUN1_uc011jvq.2_Intron|SUN1_uc003sjf.3_Nonsense_Mutation_p.Q168*|SUN1_uc003sjg.3_Nonsense_Mutation_p.Q29*	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	218	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACAGGAATCAAAAATGTAA	0.488000														280			18		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530148	5530148	+	Missense_Mutation	SNP	G	A	A	rs146605906	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5530148G>A	uc021qcw.1	-	0	641	c.641C>T	c.(640-642)cCg>cTg	p.P214L	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.P214L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	214										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATAATTTCCGGGTTGTTAAG	0.512000														95			9		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845243	106845243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106845243G>A	uc022cce.1	+	0	1609	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1358	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGAGGGAAAGGGACAGAGTC	0.672000														22			7		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606530	48606530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48606530C>T	uc010wmr.2	+	17	2996	c.2834C>T	c.(2833-2835)aCc>aTc	p.T945I	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	908					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)			GGGAAATACACCCAGAGCCTG	0.532000														33			10		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995279	4995279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4995279G>A	uc002gaq.3	+	1	605	c.480G>A	c.(478-480)atG>atA	p.M160I	ZFP3_uc021tog.1_Missense_Mutation_p.M160I	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCCAGCATATGAGAGTTCATA	0.398000														47			4		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158556	34158556	+	Silent	SNP	G	A	A	rs142510996		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34158556G>A	uc001bxm.1	-	24	4203	c.4026C>T	c.(4024-4026)atC>atT	p.I1342I	CSMD2_uc001bxn.1_Silent_p.I1302I|CSMD2_uc001bxo.1_Silent_p.I215I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1302	CUB 8.					integral to membrane|plasma membrane	protein binding	p.L1342L(1)|p.E1341Q(1)		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)				CCTCTGCTTCGATGGTCCAGA	0.567000														147			5		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999943	46999943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:46999943G>A	uc001jec.3	+	2	1198	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	GPRIN2_uc021ppt.1_Missense_Mutation_p.E355K	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	355										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCGTCCCTGGAAGCGCCTGC	0.682000														109			9		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883944	63883944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63883944G>A	uc021qks.1	+	0	205	c.205G>A	c.(205-207)Gac>Aac	p.D69N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D69N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	41					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.N68N(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CTACTGCAACGACCGGGGACT	0.607000														32			7		0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39299543	39299543	+	Silent	SNP	G	A	A	rs145088175	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39299543G>A	uc002ojg.3	-	2	394	c.180C>T	c.(178-180)gtC>gtT	p.V60V	LGALS4_uc010xuj.2_Silent_p.V60V	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	60	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGTGGAAGGCGACGTCTGAGC	0.632000														20			7		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958114	92958114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92958114G>A	uc001yak.3	+	14	1666	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	SLC24A4_uc001yai.3_Missense_Mutation_p.G484E|SLC24A4_uc010twm.2_Missense_Mutation_p.G529E|SLC24A4_uc010auj.3_Missense_Mutation_p.G420E|SLC24A4_uc010twn.2_Missense_Mutation_p.G304E|SLC24A4_uc001yan.3_Missense_Mutation_p.G242E	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	548						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTTAATTATGGATCAACAGTA	0.512000														40			13		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4457550	4457550	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4457550G>A	uc002fxz.4	-	2	380	c.318C>T	c.(316-318)ctC>ctT	p.L106L	MYBBP1A_uc002fyb.4_Silent_p.L106L	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	106	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGCACAAGGGGAGGTCTTCAA	0.547000														69			13		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788344	80788344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80788344C>T	uc002kga.3	-	2	2157	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	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.	616						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)			GGAGCCTCCTCGCCGGGGCCT	0.682000														65			6		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684074	109684074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109684074C>T	uc001tob.3	+	38	5511	c.5392C>T	c.(5392-5394)Cgc>Tgc	p.R1798C	ACACB_uc001toc.3_Missense_Mutation_p.R1798C|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R464C	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1798					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)	CATCACCTTTCGCATTGGATC	0.567000														92			8		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907745	12907745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12907745G>A	uc010obf.2	-	1	624	c.398C>T	c.(397-399)cCt>cTt	p.P133L	LOC649330_uc009vno.2_Missense_Mutation_p.P133L	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	133							nucleic acid binding|nucleotide binding										AATGGGAGGAGGAGGAGGTAC	0.493000														77			9		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99808770	99808770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99808770G>A	uc003utx.1	+	29	3530	c.3375G>A	c.(3373-3375)atG>atA	p.M1125I	STAG3_uc011kjk.1_Missense_Mutation_p.M1067I|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.M349I	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1125					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)					TGAAAGAGATGGAGGAAGAAG	0.587000														48			5		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467272	56467272	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56467272C>T	uc002qmh.3	+	2	1919	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	NLRP8_uc010etg.3_Silent_p.I616I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	616						cytoplasm	ATP binding	p.E615K(1)		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)		TGCATGAAATCCGGGAGGAAG	0.443000														39			4		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049648	107049648	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107049648C>A	uc010ywi.1	-	15	2356	c.2299G>T	c.(2299-2301)Ggt>Tgt	p.G767C		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	767					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CGCAAAGAACCATTTTTATAG	0.383000														210			9		0.000442599	0.000446911	1	1	0
RGS7	6000	broad.mit.edu	37	1	241262032	241262032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:241262032C>T	uc001hyv.2	-	2	439	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RGS7_uc010pyh.2_Missense_Mutation_p.E11K|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.E37K|RGS7_uc009xgn.1_Missense_Mutation_p.E37K|RGS7_uc001hyw.2_Missense_Mutation_p.E37K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	37	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCATTTTTTTCATCTTGCATC	0.348000														26			4		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601755	75601755	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:75601755C>T	uc001sxg.1	-	1	553	c.9G>A	c.(7-9)aaG>aaA	p.K3K	KCNC2_uc009zry.3_Silent_p.K3K|KCNC2_uc001sxe.3_Silent_p.K3K|KCNC2_uc001sxf.3_Silent_p.K3K|KCNC2_uc010stw.1_Silent_p.K3K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	3					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGTTCTCGATCTTGCCCATCT	0.577000														37			8		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:212615400G>A	uc002veg.1	-	4	684	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_uc002veh.1_Missense_Mutation_p.R196C|ERBB4_uc010zji.1_Missense_Mutation_p.R196C|ERBB4_uc010zjj.1_Missense_Mutation_p.R196C|ERBB4_uc010fut.1_Missense_Mutation_p.R196C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	196	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCCAGCAACGGCCAGTACAG	0.453000										TSP Lung(8;0.080)				75			10		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105653376	105653376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:105653376G>A	uc003vdl.4	+	8	1231	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	CDHR3_uc003vdk.3_Missense_Mutation_p.D23N|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Missense_Mutation_p.D362N|CDHR3_uc011klt.2_Missense_Mutation_p.D287N|CDHR3_uc003vdn.3_Missense_Mutation_p.D92N	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	375	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTTTGATGATGACAGTGAGGC	0.483000														142			33		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70964488	70964488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70964488C>T	uc003xym.3	-	7	1742	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AAGGGCTTCTCCCCGGAGTGC	0.512000														97			21		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52701058	52701058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52701058C>T	uc003pba.1	-	3	318	c.248G>A	c.(247-249)gGg>gAg	p.G83E		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	83	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.G83R(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CATGTCTTTCCCATAAAGGTT	0.448000														107			5		0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153077365	153077365	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:153077365G>A	uc003qpe.3	+	4	604	c.432G>A	c.(430-432)aaG>aaA	p.K144K	VIP_uc003qpf.3_Silent_p.K143K|VIP_uc010kjd.3_Silent_p.K143K	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	144					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TGGCTGTAAAGAAATATTTGA	0.383000														11			3		0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43968829	43968829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43968829C>T	uc003own.3	+	1	177	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	AK024736_uc003owm.1_Non-coding_Transcript|C6orf223_uc003owo.3_Missense_Mutation_p.P67L	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	53										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			TTCAGCTGTCCTCAaagcagg	0.542000														115			5		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120058	142120058	+	Missense_Mutation	SNP	C	T	T	rs141013676	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142120058C>T	uc022anf.1	-	1	153	c.124G>A	c.(124-126)Gat>Aat	p.D42N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGTTACATCCTGTCCCCTC	0.468000														18			4		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49702259	49702259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49702259C>T	uc003cxe.4	+	9	11882	c.11768C>T	c.(11767-11769)tCc>tTc	p.S3923F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3923					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAAAAATTTTCCTCATTCTGG	0.552000														88			7		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627890	26627890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26627890C>T	uc003xfc.1	-	1	1613	c.1177G>A	c.(1177-1179)Ggc>Agc	p.G393S	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.G393S|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.G393S|ADRA1A_uc003xfh.1_Missense_Mutation_p.G393S	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	393					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCACAAACGCCATCCGTCTTG	0.562000														83			8		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823546	47823546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47823546C>T	uc002pgj.1	+	1	561	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	171					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACCATACCCTCCTTCCTGTAC	0.612000														126			17		0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4496226	4496226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4496226C>T	uc002fyf.1	+	2	557	c.490C>T	c.(490-492)Cca>Tca	p.P164S	SMTNL2_uc002fye.2_Missense_Mutation_p.P20S	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	164										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		TGTTCCAGGTCCAGGCGATGG	0.662000														41			4		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335538	42335538	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42335538C>T	uc002igf.4	-	10	1247	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	366					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCTGGGCCCCCATTTAAGT	0.582000														71			8		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85964350	85964350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:85964350G>A	uc001kcv.3	+	8	956	c.851G>A	c.(850-852)aGc>aAc	p.S284N	CDHR1_uc001kcw.3_Missense_Mutation_p.S284N|CDHR1_uc009xst.3_Missense_Mutation_p.S43N	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	284	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTACAGCCTTGTAAAT	0.562000														75			4		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012810	189012810	+	Missense_Mutation	SNP	G	A	A	rs141991055	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:189012810G>A	uc011cle.1	-	7	1328	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	TRIML2_uc003izj.1_Missense_Mutation_p.S122L|TRIML2_uc003izk.1_Missense_Mutation_p.S102L|TRIML2_uc003izl.2_Missense_Mutation_p.S294L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	294	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCCCATCACCGACCCCGTGAG	0.572000														160			9		0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21816760	21816760	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:21816760C>T	uc003zph.3	+	2	281	c.168C>T	c.(166-168)gtC>gtT	p.V56V	MTAP_uc003zpi.1_Silent_p.V56V|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Silent_p.V73V|MTAP_uc011lnl.2_5'Flank	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	56			V -> I (in dbSNP:rs7023954).		nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TTGATTGCGTCCTCCTTGCAA	0.318000														86			15		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105890130	105890130	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:105890130G>A	uc002tcq.3	-	8	1767	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F	TGFBRAP1_uc010fjc.3_Silent_p.F330F|TGFBRAP1_uc002tcr.4_Silent_p.F561F	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	561					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						GTCTCTTGGTGAAAACCTGAA	0.413000														47			4		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12321191	12321191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12321191C>T	uc001atv.3	+	11	1540	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	VPS13D_uc001atw.3_Missense_Mutation_p.P467S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	467					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGTGGATTCCTGAAGAGAT	0.502000														111			11		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379966	379966	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:379966C>T	uc001lpb.3	+	15	2598	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	863						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGGATTTCGAGAGCGAGG	0.677000														65			11		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338912	19338912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19338912C>T	uc002nlz.3	+	7	2582	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	NCAN_uc010ecc.1_Missense_Mutation_p.P392L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	828					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACTGTGAATCCCATGGATTCC	0.562000														59			12		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233120181	233120181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233120181C>T	uc001hvl.2	-	33	6518	c.6283G>A	c.(6283-6285)Ggg>Agg	p.G2095R	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	2095						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAAGCTGCCCCTGCTCGGTG	0.592000														100			4		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4013104	4013104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4013104G>A	uc002fxe.3	-	5	1184	c.1120C>T	c.(1120-1122)Cat>Tat	p.H374Y	ZZEF1_uc002fxk.1_Missense_Mutation_p.H374Y	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	374	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGAGACCATGAATTCTAGTG	0.433000														46			6		0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74452064	74452064	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74452064A>G	uc002fct.3	-	2	549	c.349T>C	c.(349-351)Ttg>Ctg	p.L117L	CLEC18B_uc002fcu.3_Silent_p.L117L|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Silent_p.L117L	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	117	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGACGCCAAGCCCGCGGGC	0.662000														54			4		0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242689687	242689687	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242689687C>T	uc002wce.1	+	6	1148	c.975C>T	c.(973-975)ctC>ctT	p.L325L	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.L191L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Silent_p.L24L	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	325					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCGCCATCTCCACCTGGCCA	0.617000														107			13		0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83750184	83750184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:83750184G>A	uc003hnh.3	-	22	3176	c.2996C>T	c.(2995-2997)cCa>cTa	p.P999L	SEC31A_uc003hnd.3_Missense_Mutation_p.P168L|SEC31A_uc003hne.3_Missense_Mutation_p.P748L|SEC31A_uc011ccl.2_Missense_Mutation_p.P945L|SEC31A_uc003hnl.3_Missense_Mutation_p.P846L|SEC31A_uc003hng.3_Missense_Mutation_p.P984L|SEC31A_uc011ccm.2_Missense_Mutation_p.P979L|SEC31A_uc003hni.3_Missense_Mutation_p.P885L|SEC31A_uc003hnk.3_Missense_Mutation_p.P960L|SEC31A_uc003hnf.3_Missense_Mutation_p.P999L|SEC31A_uc011ccn.2_Missense_Mutation_p.P984L|SEC31A_uc003hnm.3_Missense_Mutation_p.P999L	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	999	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTCAAAGCTGGAGGGTCATT	0.388000														24			9		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215851370	215851370	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:215851370C>T	uc002vew.3	-	27	4279	c.4059G>A	c.(4057-4059)aaG>aaA	p.K1353K	ABCA12_uc002vev.3_Silent_p.K1035K|ABCA12_uc010zjn.2_Silent_p.K280K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1353	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCCATAGATCTTTGTGACCC	0.453000														32			7		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594776	50594776	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50594776G>A	uc010qgq.2	-	3	378	c.378C>T	c.(376-378)ccC>ccT	p.P126P	DRGX_uc021pqd.1_Silent_p.P121P	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	126					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P125Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGTCCCCAGGGGGCGGGGAGT	0.657000														71			11		0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74972117	74972117	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74972117G>A	uc002fdh.1	-	7	684	c.582C>T	c.(580-582)atC>atT	p.I194I	WDR59_uc002fdi.3_Silent_p.I194I|WDR59_uc021tli.1_Silent_p.I173I	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	194										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCAGGCCATGGATTTTGGAGA	0.493000														72			6		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37900714	37900714	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37900714G>A	uc003asx.1	-	7	1463	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Silent_p.F196F|CARD10_uc003asy.1_Silent_p.F482F	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	482					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GAGGGGAGGGGAACTCGCTCA	0.612000														51			4		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239990269	239990269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239990269G>A	uc002vyk.4	-	22	3562	c.2770C>T	c.(2770-2772)Ccg>Tcg	p.P924S	HDAC4_uc010fyy.3_Missense_Mutation_p.P881S	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	924	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor 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)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCACATCCGGGGCAAACTCG	0.602000														54			4		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072361	240072361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240072361G>A	uc021plc.1	+	0	1610	c.1610G>A	c.(1609-1611)aGc>aAc	p.S537N	CHRM3_uc001hyp.3_Missense_Mutation_p.S537N	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	537					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACATCAACAGCACCGTGAAC	0.483000														38			7		0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801321	3801321	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3801321C>T	uc002fww.3	-	10	1557	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	372					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCATGTCCTCAGCGTATT	0.617000														100			9		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196300324	196300324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:196300324G>A	uc001gtd.1	-	17	2125	c.2065C>T	c.(2065-2067)Cat>Tat	p.H689Y	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.H639Y|KCNT2_uc001gtf.1_Missense_Mutation_p.H689Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.H689Y|KCNT2_uc001gth.1_Missense_Mutation_p.H210Y	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	689						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTTTTCATGAAGGAGATGA	0.299000														20			5		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65358037	65358037	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65358037C>T	uc001oeo.4	+	15	4522	c.4257C>T	c.(4255-4257)atC>atT	p.I1419I		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	1419										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACGCTCTCATCCGGAGGCAGG	0.567000														36			6		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552295	56552295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56552295G>A	uc002qmj.3	+	10	2794	c.2794G>A	c.(2794-2796)Gac>Aac	p.D932N	NLRP5_uc002qmi.3_Missense_Mutation_p.D913N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	932						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGACTGGAGGACTGTGGCAT	0.547000														30			5		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634991	172634992	+	Nonsense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172634991_172634992GA>AT	uc001gis.3	+	3	838_839	c.681_682GA>AT	c.(679-684)gggaag>ggATag	p.K228*	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	228					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TGATGGAGGGGAAGATGATGAG	0.510000														50			4		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870087	189870087	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:189870087G>A	uc002uqj.1	+	40	3060	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	981	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G981G(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGAAAGTGGGAAACCAGGAG	0.428000														58			6		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412276	154412276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:154412276G>A	uc011efe.2	+	4	1635	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	OPRM1_uc011efd.2_Missense_Mutation_p.R178Q|OPRM1_uc011efc.1_Missense_Mutation_p.R197Q|OPRM1_uc003qpn.2_Missense_Mutation_p.R278Q|OPRM1_uc003qpo.1_Missense_Mutation_p.R278Q|OPRM1_uc011eff.1_Missense_Mutation_p.R278Q|OPRM1_uc011efg.1_Missense_Mutation_p.R278Q|OPRM1_uc011efi.2_Missense_Mutation_p.R278Q|OPRM1_uc011efh.1_Missense_Mutation_p.R278Q|OPRM1_uc003qpq.1_Missense_Mutation_p.R278Q|OPRM1_uc003qpr.2_Missense_Mutation_p.R278Q|OPRM1_uc003qpt.1_Missense_Mutation_p.R278Q|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R178Q|OPRM1_uc003qpu.2_Missense_Mutation_p.R178Q	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	278					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R278Q(2)|p.N371H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AGGAATCTTCGAAGGATCACC	0.498000														39			8		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32344962	32344962	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:32344962C>T	uc002wzy.3	+	5	770	c.750C>T	c.(748-750)aaC>aaT	p.N250N	ZNF341_uc002wzx.3_Silent_p.N250N|ZNF341_uc010geq.3_Silent_p.N160N|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGGTGCCAAACCAGTGTGTGG	0.597000														196			29		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854452	53854452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53854452C>T	uc010ydv.1	+	3	641	c.524C>T	c.(523-525)tCa>tTa	p.S175L	ZNF845_uc010ydw.1_Missense_Mutation_p.S175L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGTTGGTTTCAACATCCCAA	0.388000														55			6		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245532	46245532	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46245532G>A	uc003cph.1	-	1	344	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.I91I	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	91					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453000														67			4		0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:63010527C>T	uc002jfc.3	-	3	1191	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	GNA13_uc010wqh.2_Missense_Mutation_p.E233K	NM_006572	NP_006563	Q14344	GNA13_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA.	328					Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(4)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000														59			7		0	0	1	0	0
LACTB	114294	broad.mit.edu	37	15	63419597	63419597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63419597C>T	uc002alw.3	+	3	733	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	LACTB_uc002alv.3_Missense_Mutation_p.R221C	NM_032857	NP_116246	P83111	LACTB_HUMAN	Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	221						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTGGAATTCGTCATTATGA	0.299000														83			6		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030346	6030346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6030346C>T	uc001qnm.2	-	2	454	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	ANO2_uc021qtt.1_Missense_Mutation_p.G132S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	132						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTCCTTGCCTGTCTCCCCA	0.617000														21			5		0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703567	44703567	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:44703567C>T	uc004dgd.3	+	0	319	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	63	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						ACGTATTCTTCGAGGGCATTC	0.502000														58			8		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70931508	70931508	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:70931508C>T	uc021vjc.1	-	3	532	c.267G>A	c.(265-267)caG>caA	p.Q89Q	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.Q89Q|ADD2_uc002sgz.3_Silent_p.Q89Q|ADD2_uc010fdt.2_Silent_p.Q89Q|ADD2_uc002shc.2_Silent_p.Q89Q|ADD2_uc010fdu.2_Silent_p.Q105Q	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	89					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						AGTCCGCGATCTGTCGCAGGG	0.602000														92			27		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723979	99723979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:99723979C>T	uc001yga.3	-	1	523	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	BCL11B_uc001ygb.3_Missense_Mutation_p.G86S	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	86						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TAGCAGGCACCCAAGCTGCCG	0.587000			T	TLX3	T-ALL									67			13		0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141443401	141443402	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141443401_141443402CC>AT	uc003vwo.1	+	3	204_205	c.126_127CC>AT	c.(124-129)gaccct>gaATct	p.42_43DP>ES	SSBP1_uc011kri.1_Missense_Mutation_p.42_43DP>ES|SSBP1_uc010lnp.1_Missense_Mutation_p.42_43DP>ES	NM_003143	NP_003134	Q04837	SSBP_HUMAN	Homo sapiens single-stranded DNA binding protein 1 (SSBP1), nuclear gene encoding mitochondrial protein, mRNA.	42	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TGGGTCAGGACCCTGTCTTGAG	0.465000														72			17		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5633672	5633672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5633672C>T	uc003gij.3	-	10	1612	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	EVC2_uc003gik.3_Missense_Mutation_p.E440K|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	520						integral to membrane		p.E520delE(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAAAGTCTTCTTCTTGTTGC	0.473000														53			6		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86772958	86772958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:86772958G>A	uc004efa.2	+	0	244	c.62G>A	c.(61-63)tGg>tAg	p.W21*	KLHL4_uc004efb.2_Nonsense_Mutation_p.W21*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	21						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CGCTGGAGGTGGTTTAGTCAT	0.488000														19			3		0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66957811	66957811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:66957811C>T	uc002eqn.2	-	2	534	c.382G>A	c.(382-384)Gat>Aat	p.D128N	RRAD_uc002eqo.2_Missense_Mutation_p.D128N	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	128					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ATGGAGCGATCATAGGTGTGC	0.572000														111			8		0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68024756	68024756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:68024756G>A	uc010cey.3	-	5	1041	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	DPEP2_uc002eve.3_Missense_Mutation_p.R293W|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	293					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GGAACATTCCGAGCACTGTTG	0.587000														154			6		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001352	52001352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52001352C>T	uc002pwx.1	-	4	1381	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G324E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G169E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	442	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTGAATTCCCCTTCATCCTT	0.617000														46			5		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925719	27925719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27925719G>A	uc011dkx.2	+	0	701	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGAAGGTCGACAAAAAGCA	0.453000														31			6		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400524	67400524	+	Silent	SNP	G	A	A	rs149888346		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67400524G>A	uc001omp.3	-	4	688	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	200				FV -> LL (in Ref. 3; AAC23481).	anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						GTGGGTCCACGAAGACCACGT	0.562000														162			28		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298165	36298165	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36298165C>T	uc003oly.3	-	1	481	c.303G>A	c.(301-303)aaG>aaA	p.K101K		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	101										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCAGCATGGTCTTCAGCCACC	0.627000														67			8		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751732	19751732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:19751732C>T	uc009zzj.3	-	3	496	c.391G>A	c.(391-393)Gga>Aga	p.G131R		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	131					'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)		CCCTGCAGTCCCGTGCACAGA	0.577000														33			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208757	140208757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140208757G>A	uc003lho.2	+	0	1108	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	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_Missense_Mutation_p.E361K|PCDHAC2_uc011dab.2_Missense_Mutation_p.E361K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	376	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)			GCCTGTACGTGAAGACGCTCA	0.507000														88			11		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561197	11561197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11561197C>T	uc001ash.4	+	1	286	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	PTCHD2_uc001asi.1_Missense_Mutation_p.P50S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	50					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCGGCACTGGCCCCTGGCTTC	0.657000														62			16		0	0	1	0	0
METAP1	23173	broad.mit.edu	37	4	99969997	99969997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:99969997C>T	uc003huf.4	+	8	1018	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	METAP1_uc003hug.3_Non-coding_Transcript|METAP1_uc010ild.3_Intron	NM_015143	NP_055958	P53582	AMPM1_HUMAN	Homo sapiens methionyl aminopeptidase 1 (METAP1), mRNA.	301					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAAGCTTTTTCATACAGCTCC	0.388000														62			7		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46332353	46332353	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46332353G>A	uc002pdn.3	-	13	2105	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SYMPK_uc002pdo.1_Silent_p.F620F|SYMPK_uc002pdp.1_Silent_p.F620F	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	620					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGAGCCAGGCGAAGGCCAGGT	0.642000														75			15		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762528	53762528	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53762528G>A	uc002qbi.2	+	0	984	c.900G>A	c.(898-900)agG>agA	p.R300R		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	300					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.C299F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACATCTGTAGGAACAATCTCT	0.493000														131			20		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273212	162273212	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162273212C>T	uc002ubw.1	+	0	593	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTCACAGTTTCGATGGCTCTG	0.577000														162			14		0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987602	7987602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7987602C>T	uc003mxx.4	+	0	1268	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		CAAGACATCCCTGATGGTCTT	0.468000														19			4		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322195	55322195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55322195C>T	uc010rig.2	+	0	413	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S138F(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATTGTAGACTCCCTCTATGTG	0.488000										HNSCC(20;0.049)				64			14		0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90124822	90124822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:90124822C>T	uc010cje.3	-	9	1374	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	PRDM7_uc002fqo.3_Silent_p.K151K|PRDM7_uc010cjf.3_Silent_p.K240K	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	452						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAGAAGTTTTCTTGCAGATGG	0.478000														76			5		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595143	31595143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31595143C>T	uc002rnv.1	-	16	1886	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	603					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAGACAGCTCATTCTCGTAG	0.647000														161			74		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6061852	6061852	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6061852G>A	uc001iiz.2	-	4	855	c.636C>T	c.(634-636)tcC>tcT	p.S212S	IL2RA_uc009xih.2_Silent_p.S140S|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	212					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGACGAGGCAGGAAGTCTCAC	0.577000														53			12		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48142402	48142402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48142402C>T	uc002efc.1	-	16	2666	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	774						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACGGTTCCTTCCTGGGGGGAT	0.473000														74			6		0	0	1	0	0
ARPC1B	10095	broad.mit.edu	37	7	98984364	98984364	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98984364A>G	uc003upz.3	+	2	241	c.121A>G	c.(121-123)Aaa>Gaa	p.K41E	ARPC1A_uc011kit.2_Non-coding_Transcript	NM_005720	NP_005711	O15143	ARC1B_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA.	41					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCGGTGCCAAATGGACCAA	0.572000														99			17		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52534337	52534337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:52534337G>A	uc001vfw.2	-	6	2225	c.2068C>T	c.(2068-2070)Cca>Tca	p.P690S	ATP7B_uc001vfy.2_Missense_Mutation_p.P579S|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc010tgt.1_Missense_Mutation_p.P690S|ATP7B_uc010tgu.1_Missense_Mutation_p.P690S|ATP7B_uc010tgv.1_Missense_Mutation_p.P690S|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_Intron|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	690			P -> L (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GACAGTCCTGGAATGATGTTG	0.483000									Wilson disease					50			10		0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120636466	120636466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120636466G>A	uc001txp.3	-	5	779	c.542C>T	c.(541-543)tCc>tTc	p.S181F	RPLP0_uc001txr.3_Intron|RPLP0_uc001txq.3_Missense_Mutation_p.S181F|RPLP0_uc021ret.1_5'Flank|LOC100506649_uc021reu.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.	181					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	RNA binding|protein binding|structural constituent of ribosome	p.I180S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGAAGGGGGAGATGTTGAG	0.522000														53			5		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275842	64275842	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64275842C>T	uc002amr.3	-	2	235	c.204G>A	c.(202-204)cgG>cgA	p.R68R	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.R58R	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	68	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CGATCTCCTCCCGGCTCACAC	0.627000														51			18		0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163235	84163235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84163235G>A	uc002fhk.2	-	4	996	c.812C>T	c.(811-813)tCg>tTg	p.S271L	HSDL1_uc010vnv.1_Missense_Mutation_p.S216L	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	271						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GACTTTTGGCGAAGGCACCAA	0.468000														72			7		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085891	44085891	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44085891G>A	uc001cjr.3	+	30	5578	c.5238_splice	c.e30+1	p.R1746_splice	PTPRF_uc001cjs.3_Splice_Site_p.R1737_splice|PTPRF_uc001cju.3_Splice_Site_p.R1135_splice|PTPRF_uc009vwt.3_Splice_Site_p.R1306_splice|PTPRF_uc001cjv.3_Splice_Site_p.R1217_splice|PTPRF_uc001cjw.3_Splice_Site_p.R972_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1746	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGATGGGCAGGGTGAGCCCA	0.612000														135			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754526	140754526	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140754526C>T	uc003ljy.2	+	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F	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_Silent_p.F292F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	293	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)			CACAAATTTTCTGTTTGAATG	0.448000														35			7		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21036145	21036145	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21036145C>T	uc001bdr.4	-	3	775	c.657G>A	c.(655-657)gaG>gaA	p.E219E	KIF17_uc001bds.4_Silent_p.E219E	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	219	Kinesin-motor.				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)		CGGCAGACATCTCGATGCTGA	0.602000														50			5		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294866	5294866	+	Silent	SNP	G	A	A	rs149123899	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5294866G>A	uc010zqw.2	-	0	158	c.150C>T	c.(148-150)ttC>ttT	p.F50F	PROKR2_uc010zqx.2_Silent_p.F50F|PROKR2_uc010zqy.2_Silent_p.F50F|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	50						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCTTGGCTGCGAAGAAGGTCC	0.517000										HNSCC(71;0.22)				90			6		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489190	42489190	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42489190G>A	uc002osh.3	-	7	1027	c.873C>T	c.(871-873)ttC>ttT	p.F291F	ATP1A3_uc010xwf.2_Silent_p.F302F|ATP1A3_uc010xwg.2_Silent_p.F261F|ATP1A3_uc002osg.3_Silent_p.F291F|ATP1A3_uc010xwh.2_Silent_p.F304F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	291					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						AGACACCCAGGAAGACAGCCA	0.587000														16			3		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19501790	19501790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19501790G>A	uc002dgc.4	+	17	3396	c.2647G>A	c.(2647-2649)Gac>Aac	p.D883N	TMC5_uc010vaq.2_Missense_Mutation_p.D831N|TMC5_uc002dgb.4_Intron|TMC5_uc010var.2_Missense_Mutation_p.D883N|TMC5_uc002dgd.1_Missense_Mutation_p.D637N|TMC5_uc002dge.4_Missense_Mutation_p.D637N|TMC5_uc002dgf.4_Missense_Mutation_p.D566N|TMC5_uc002dgg.4_Missense_Mutation_p.D524N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	883						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCTGGATCGACACCCTAAG	0.483000														160			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975918	20975918	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20975918C>T	uc010vbe.2	-	52	9288	c.9288G>A	c.(9286-9288)gaG>gaA	p.E3096E	DNAH3_uc010vbd.2_Silent_p.E531E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3096	AAA 5 (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)		TATTCGCCTTCTCCATGTTCT	0.468000														101			7		0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7891518	7891518	+	Missense_Mutation	SNP	C	T	T	rs137853062		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:7891518C>T	uc003jed.3	+	9	1472	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	MTRR_uc003jee.4_Missense_Mutation_p.S454L|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	481	FAD-binding FR-type.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGACCATATTCGTGTGCAAGG	0.294000														37			8		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933482	94933482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94933482C>T	uc001ydf.3	-	2	1081	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SERPINA9_uc001yde.3_Missense_Mutation_p.R207K|SERPINA9_uc010avc.3_Missense_Mutation_p.R158K|SERPINA9_uc001ydg.3_Missense_Mutation_p.R271K|SERPINA9_uc001ydh.1_Missense_Mutation_p.R307K|SERPINA9_uc001ydi.1_Missense_Mutation_p.R271K	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	289					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537000														47			6		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12628409	12628409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12628409C>T	uc001auc.3	-	5	1336	c.869G>A	c.(868-870)gGa>gAa	p.G290E	DHRS3_uc001aub.3_Missense_Mutation_p.G205E	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	290					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GGTGTAGGTTCCTGAGAATTT	0.537000														147			20		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338712	19338712	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19338712C>T	uc002nlz.3	+	7	2382	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	NCAN_uc010ecc.1_Silent_p.F325F	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	761					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.F761F(2)|p.F775F(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGGGGTCTTCGACACAGCAG	0.582000														74			20		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1645353	1645353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:1645353C>T	uc003wpl.3	+	10	2694	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V	DLGAP2_uc003wpm.3_Missense_Mutation_p.A852V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	945					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGGACCTGGCCGGCTACTGG	0.647000														39			5		0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941231	111941231	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:111941231G>A	uc001pmp.4	-	4	965	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	PIH1D2_uc009yyl.3_Silent_p.L248L|PIH1D2_uc010rws.1_Silent_p.L248L	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	248										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TCAATTTTCAGAGGTTTCTCA	0.368000														67			4		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039483	55039483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:55039483C>T	uc001sgj.3	-	2	168	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	DCD_uc009znt.3_Missense_Mutation_p.E36K|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	36					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GCTGATGCTTCATGGCAAGCT	0.527000														34			5		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602350	48602350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48602350C>T	uc010wmr.2	+	12	2039	c.1877C>T	c.(1876-1878)aCc>aTc	p.T626I	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)			GCCTATCTCACCGAGGAAGAC	0.647000														71			16		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298431	36298431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36298431C>T	uc003oly.3	-	1	215	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	13										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCTTTCTTCTCCGCCAGGGGC	0.567000														67			4		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139724440	139724440	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139724440G>A	uc003vvl.1	-	11	2900	c.2026C>T	c.(2026-2028)Cag>Tag	p.Q676*	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	676	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GTGGTGTACTGGATGACATAC	0.567000														43			16		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742809	51742809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51742809G>A	uc002pwa.2	+	6	1001	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E194K|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	321					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGGCCCCACTGAAACCTCAAG	0.522000														39			6		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306802	2306802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:2306802G>A	uc003gex.2	-	7	1585	c.1265C>T	c.(1264-1266)cCa>cTa	p.P422L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.P352L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P392L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P308L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	422					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCACCCAAATGGGCCAGCTGG	0.692000														59			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179568945	179568945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179568945C>T	uc021vsy.1	-	102	26645	c.26420G>A	c.(26419-26421)cGa>cAa	p.R8807Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5468Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9734	Ig-like 71.						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)			GTCTTCTGCTCGAACATCTGC	0.428000														73			15		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872832	136872832	+	Silent	SNP	G	A	A	rs144569657		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136872832G>A	uc002tuz.3	-	1	761	c.666C>T	c.(664-666)atC>atT	p.I222I	CXCR4_uc002tuy.3_Silent_p.I226I|CXCR4_uc010fnk.3_Silent_p.I207I	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	222					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GCTTGGAGATGATAATGCAAT	0.517000														74			5		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325334	77325334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:77325334C>T	uc002ffc.4	-	20	3650	c.3231G>A	c.(3229-3231)atG>atA	p.M1077I		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1077	TSP type-1 4.				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						CGCTGCACTTCATCTCCCTCT	0.483000														154			11		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718463	142718463	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:142718463G>A	uc022cfm.1	-	0	462	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLITRK4_uc022cfl.1_Silent_p.L154L|SLITRK4_uc004fbx.3_Silent_p.L154L|SLITRK4_uc004fby.3_Silent_p.L154L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	154						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTTTGTGGAGCTTATTGA	0.398000														33			17		0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50901911	50901911	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50901911C>T	uc001jid.1	+	1	249	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CHAT_uc010qgs.1_3'UTR|C10orf53_uc001jib.3_Silent_p.F63F|C10orf53_uc001jic.1_Silent_p.F63F	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.	63										endometrium(1)|lung(6)	7		all_neural(218;0.107)				AAGTCATCTTCCACTGCAACA	0.473000														61			8		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008787	11008787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11008787C>T	uc010oao.2	-	11	1405	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	C1orf127_uc001ars.2_Missense_Mutation_p.E304K|C1orf127_uc001arr.2_Missense_Mutation_p.E312K	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	320										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATCCCTGCTTCCCCTGGGGGA	0.647000														126			5		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74803645	74803645	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74803645G>A	uc002smy.3	-	5	987	c.870C>T	c.(868-870)ttC>ttT	p.F290F	C2orf65_uc010ysa.2_Silent_p.F290F|C2orf65_uc002smz.2_Silent_p.F290F|C2orf65_uc010ffp.3_Silent_p.F8F	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	290					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						AGAGTGTGATGAAGTCTCCTT	0.517000														16			8		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087097	92087097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92087097G>A	uc001pdj.4	+	0	1836	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	607	Cadherin 6.				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)				CGATATCGATGAACTTGAACT	0.388000										TCGA Ovarian(4;0.039)				69			5		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39120346	39120346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39120346C>T	uc003awg.3	+	5	1157	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	335					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACCAGGCTGCCGGAAGATCCC	0.542000														68			5		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61558518	61558518	+	Missense_Mutation	SNP	A	G	G	rs141186617		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61558518A>G	uc002jau.2	+	5	948	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ACE_uc010wpi.2_Missense_Mutation_p.N305S|ACE_uc010ddu.2_Missense_Mutation_p.N122S	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	305	Peptidase M2 1.				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)	GACAAGCCCAACCTCGATGTC	0.577000														91			9		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279355	73279355	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73279355C>T	uc003tzk.2	+	1	141	c.105C>T	c.(103-105)ttC>ttT	p.F35F	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	35						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TCTATAATTTCCTGCTCCTCA	0.567000														356			33		0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10239373	10239373	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:10239373A>G	uc003jeo.2	-	1	141	c.112T>C	c.(112-114)Ttc>Ctc	p.F38L	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.F38L	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	38						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTAAGTAAGAACCCCCAGTTG	0.478000														92			15		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86118489	86118489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:86118489G>A	uc002blv.1	+	5	960	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	AKAP13_uc002blt.1_Missense_Mutation_p.E264K|AKAP13_uc002blu.1_Missense_Mutation_p.E264K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	264					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|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCACATCATGAACACCCATT	0.388000														77			11		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154995717	154995717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154995717C>T	uc001fgm.3	-	13	2061	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	661						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGGCCCTCCTCATCGCTG	0.592000														35			5		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346335	37346335	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37346335C>T	uc001caz.2	-	2	585	c.450G>A	c.(448-450)gtG>gtA	p.V150V	GRIK3_uc001cba.1_Silent_p.V150V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	150					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGTAGAGGTTCACGTAGAAGG	0.602000														90			24		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698361	48698361	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48698361G>A	uc003cuf.1	-	2	1917	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A	CELSR3_uc003cul.3_Silent_p.A569A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	569	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGGTCAGTGGCCGTGACGC	0.602000														21			4		0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142399932	142399932	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:142399932G>A	uc003qiu.3	-	1	672	c.531C>T	c.(529-531)ccC>ccT	p.P177P		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ACACCGCTTCGGGAACTGCCA	0.517000														13			5		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509081	71509081	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71509081G>T	uc011caw.1	+	8	2219	c.1938G>T	c.(1936-1938)aaG>aaT	p.K646N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	646					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGACCAGAAGGAGATAGTCC	0.443000														54			4		0.014758	0.0148672	1	1	0
CGNL1	84952	broad.mit.edu	37	15	57839673	57839673	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57839673C>T	uc010bfw.3	+	19	4087	c.3894C>T	c.(3892-3894)gtC>gtT	p.V1298V	CGNL1_uc002aeg.3_Silent_p.V1298V|CGNL1_uc021smw.1_5'Flank	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1298	Tail.					myosin complex|tight junction	motor activity	p.V1298I(1)		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)		ACAGCACCGTCGCCAGCCAGA	0.592000														105			5		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940554	21940554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21940554G>A	uc001bev.3	-	4	338	c.320C>T	c.(319-321)gCt>gTt	p.A107V	RAP1GAP_uc001bew.3_Missense_Mutation_p.A171V|RAP1GAP_uc001bey.3_Missense_Mutation_p.A107V|RAP1GAP_uc001bex.3_Missense_Mutation_p.A107V	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	107			A -> T (in dbSNP:rs2275363).		regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCCGAGGGCAGCGTCCAGTGA	0.597000														17			6		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91843226	91843226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:91843226G>A	uc003ulr.1	-	15	2690	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C	KRIT1_uc010lev.1_Missense_Mutation_p.R357C|KRIT1_uc003ulq.1_Missense_Mutation_p.R600C|KRIT1_uc003uls.1_Missense_Mutation_p.R600C|KRIT1_uc003ult.1_Missense_Mutation_p.R552C|KRIT1_uc003ulu.1_Missense_Mutation_p.R600C|KRIT1_uc003ulv.1_Missense_Mutation_p.R600C	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	600	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	p.N599S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAGTATGCGATTTGTCCAG	0.323000														56			4		0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6331771	6331771	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6331771T>G	uc002gcp.3	-	2	427	c.332A>C	c.(331-333)aAg>aCg	p.K111T	AIPL1_uc021toq.1_Missense_Mutation_p.K72T|AIPL1_uc002gcq.3_Missense_Mutation_p.K51T|AIPL1_uc002gcr.3_Intron|AIPL1_uc010clk.3_Missense_Mutation_p.K89T|AIPL1_uc010cll.3_Missense_Mutation_p.K111T|AIPL1_uc021tor.1_Missense_Mutation_p.K111T|AIPL1_uc002gcs.3_Missense_Mutation_p.K111T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	111	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TGTGGGGTCCTTGCCCTGGGC	0.637000														78			5		0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16918164	16918164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:16918164C>T	uc003sts.3	-	1	152	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	27						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GGCCTCTTTTCCTTTTTTATT	0.403000														48			10		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408108	30408109	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30408108_30408109GG>AA	uc002wwq.2	+	2	334_335	c.232_233GG>AA	c.(232-234)gga>AAa	p.G78K		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	78					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCCCCAAAGGAGAGGGTGAC	0.668000														41			4		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234905099	234905099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234905099G>A	uc002vvh.3	+	21	3109	c.3069G>A	c.(3067-3069)atG>atA	p.M1023I	TRPM8_uc010fyj.3_Missense_Mutation_p.M601I|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	1023						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACTTCTACATGGTGGTGAAGA	0.493000														83			14		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922126	159922126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159922126G>A	uc001fus.3	-	2	707	c.590C>T	c.(589-591)tCc>tTc	p.S197F	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	197	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGTGTAGGAGAGGGCACT	0.587000														73			13		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18193024	18193024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18193024G>A	uc002nhx.1	-	3	346	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	IL12RB1_uc002nhw.1_Missense_Mutation_p.R59C|IL12RB1_uc010xqb.1_Missense_Mutation_p.R59C|IL12RB1_uc002nhy.3_Missense_Mutation_p.R59C	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	59	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACTCGTAACGATCACTGGAT	0.592000														22			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777484	237777484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237777484C>T	uc001hyl.1	+	36	5176	c.5056C>T	c.(5056-5058)Ctc>Ttc	p.L1686F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1686	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)			ACCTCAGCTCCTCTATGCCAT	0.552000														23			5		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98608764	98608764	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98608764C>T	uc003upp.3	+	69	11195	c.10986C>T	c.(10984-10986)gcC>gcT	p.A3662A	TRRAP_uc011kis.2_Silent_p.A3633A|TRRAP_uc003upr.3_Silent_p.A3368A|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3662	PI3K/PI4K.				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)			TCCCCAATGCCACGGACTACT	0.552000														54			12		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46996740	46996740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46996740C>T	uc003oyt.3	-	1	257	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.G20S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	20					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCAGGAAGCCACCGTGGCCG	0.512000														27			5		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39775688	39775688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39775688G>A	uc003xnm.3	+	2	379	c.265G>A	c.(265-267)Gca>Aca	p.A89T		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	89					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CATCACCATGGCATATGTGTG	0.413000														90			6		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27669002	27669002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27669002G>A	uc003szf.3	-	3	685	c.472C>T	c.(472-474)Cct>Tct	p.P158S	HIBADH_uc003szg.3_Missense_Mutation_p.P109S|HIBADH_uc003szi.3_Missense_Mutation_p.P109S	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	158					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CCAGAAACAGGGGCATCCATG	0.363000														85			6		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178531	223178531	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223178531C>T	uc001hnu.2	+	9	4118	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1264					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGTGTCACTTCTTCTCTCTGA	0.512000														431			58		0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41352930	41352930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41352930C>T	uc002opl.4	-	4	702	c.681G>A	c.(679-681)atG>atA	p.M227I	CYP2A6_uc010ehe.1_Missense_Mutation_p.M23I|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	227					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GCAGGTGTTTCATCACCGAAG	0.557000														88			12		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748623	73748623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73748623C>T	uc002jpg.3	+	31	4260	c.4073C>T	c.(4072-4074)tCg>tTg	p.S1358L	ITGB4_uc002jph.3_Missense_Mutation_p.S1358L|ITGB4_uc002jpi.4_Missense_Mutation_p.S1358L|ITGB4_uc002jpj.3_Missense_Mutation_p.S1358L	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1358					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCTCTCCATCGGGCAGCCAG	0.602000														129			16		0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080278	30080278	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30080278A>T	uc003npg.1	-	1	415	c.305T>A	c.(304-306)tTc>tAc	p.F102Y	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	102						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GAAATAGTGGAACATCTCCTG	0.498000														101			8		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60945082	60945082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:60945082G>A	uc001xez.4	-	4	369	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	87										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCATGTTTACGAAAAACATCA	0.269000														18			6		0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99340684	99340684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99340684G>A	uc001knw.3	+	4	819	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	ANKRD2_uc009xvu.3_Missense_Mutation_p.G204R	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	204					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCTAGATAATGGGGCCACTGT	0.592000														17			3		0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63632593	63632593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63632593C>T	uc002amc.3	-	6	797	c.641G>A	c.(640-642)aGg>aAg	p.R214K	CA12_uc002amd.3_Missense_Mutation_p.R214K|CA12_uc002ame.3_Missense_Mutation_p.R154K	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	214					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TTCAGCGGTCCTCTCCGGAAG	0.567000														36			14		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260362	44260362	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:44260362G>A	uc010xcy.1	-	7	1450	c.882C>T	c.(880-882)tcC>tcT	p.S294S	ST8SIA5_uc002lci.1_Silent_p.S105S|ST8SIA5_uc002lcj.1_Silent_p.S258S|ST8SIA5_uc010xcz.1_Silent_p.S227S	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	258					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGACGCGGATGGACACGTCGG	0.607000														29			3		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746045	90746045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90746045G>A	uc011lti.2	-	3	1936	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	636																	CTCAAGGAAGGAAAGCACCTG	0.557000														174			16		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109980	98109980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:98109980G>A	uc011bgw.2	+	0	471	c.471G>A	c.(469-471)atG>atA	p.M157I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P156S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCATCCCATGATTGAAGTAG	0.423000														24			4		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49238556	49238556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49238556C>T	uc002pki.3	-	3	1273	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	359					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		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;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTCTGCAGTTCCGATTTGGGC	0.672000														35			6		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165957	118165957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118165957C>T	uc021osq.1	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F	FAM46C_uc001ehe.3_Missense_Mutation_p.S156F	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	156										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGCCTGATCTCCCTCTCCAAC	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				75			5		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614387	47614387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47614387G>A	uc001cqv.1	+	11	1529	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q		NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	493						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCATGGCACGACTTGTGTTG	0.562000														68			20		0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10523120	10523120	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10523120A>T	uc001arj.3	-	4	876	c.778T>A	c.(778-780)Ttg>Atg	p.L260M	DFFA_uc001ark.3_Missense_Mutation_p.L260M	NM_004401	NP_004392	O00273	DFFA_HUMAN	Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide (DFFA), transcript variant 1, mRNA.	260					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCCACCTCCAAATCCTGACTA	0.557000														77			8		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423026	26423026	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26423026G>A	uc003abz.1	+	42	7336	c.7086G>A	c.(7084-7086)ggG>ggA	p.G2362G	MYO18B_uc003aca.1_Silent_p.G2243G|MYO18B_uc010guy.1_Silent_p.G2244G|MYO18B_uc010guz.1_Silent_p.G2242G|MYO18B_uc011aka.1_Silent_p.G1516G|MYO18B_uc011akb.1_Silent_p.G1875G|MYO18B_uc010gva.1_Silent_p.G345G|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2362						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGCATGGGGAGAAAACTGA	0.582000														96			13		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16608950	16608950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:16608950G>A	uc004cxk.3	-	17	2471	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	CTPS2_uc004cxl.3_Missense_Mutation_p.S576L|CTPS2_uc004cxm.3_Missense_Mutation_p.S576L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	576					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CCTTGGCTCTGAAAAGCTGTC	0.378000														54			5		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629839	129629839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129629839G>A	uc010nrh.3	+	0	925	c.707G>A	c.(706-708)gGa>gAa	p.G236E	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	236										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TACGTCGCTGGATTTGTAGAC	0.532000														46			8		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965597	26965597	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26965597G>A	uc002hbu.3	-	11	1396	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	431						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAAGTTGAATGGAAATGTTGA	0.433000														93			5		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724598	45724598	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45724598G>A	uc003tne.4	+	11	2022	c.2004G>A	c.(2002-2004)acG>acA	p.T668T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	668					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)	GGTGCCTGACGATTCAGATTC	0.433000														225			7		0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56699001	56699001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:56699001C>T	uc003xsj.4	+	3	931	c.544C>T	c.(544-546)Cct>Tct	p.P182S	TGS1_uc010lyh.3_Missense_Mutation_p.P86S	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	182					RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GACAGAAAATCCTCCAGTTGA	0.368000														16			3		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667911	49667911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:49667911C>T	uc001jgu.3	-	4	820	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.E69K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E159K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.E116K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E165K|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	159	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGACTGTTTCCTCTAGGCGC	0.642000														37			8		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515279	44515279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44515279C>T	uc002oyb.1	+	4	1339	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAAACCATACAGATGT	0.438000														36			8		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475768	27475769	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:27475768_27475769AG>GA	uc002dov.2	-	33	5784_5785	c.5744_5745CT>TC	c.(5743-5745)gct>gTC	p.A1915V	GTF3C1_uc002dou.3_Missense_Mutation_p.A1915V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1915						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTCTTCAAGAGCTGGGGGTGG	0.653000														125			14		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027073	38027073	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38027073G>A	uc002hte.3	+	3	397	c.244_splice	c.e3+1	p.G82_splice	ZPBP2_uc002htf.3_Splice_Site_p.G60_splice	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	82					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACGTTAACAGGTAAATTTGAT	0.279000														28			5		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475117	50475117	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50475117G>A	uc010ybk.1	+	2	148	c.42G>A	c.(40-42)agG>agA	p.R14R	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						AAAACCTGAGGAACGGCACAT	0.662000														15			4		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651448	8651448	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8651448G>A	uc002mkj.1	-	19	2671	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	ADAMTS10_uc002mki.1_Silent_p.I286I|ADAMTS10_uc002mkk.1_Silent_p.I431I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	799	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						TTACCATGACGATGAGAGATG	0.597000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			15		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47832323	47832323	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47832323G>A	uc003tny.2	-	55	8462	c.8428C>T	c.(8428-8430)Cta>Tta	p.L2810L	C7orf69_uc003tnz.4_5'Flank|C7orf69_uc003toa.1_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2810					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						GGGAGTTGTAGGCTGTCGGAC	0.413000														62			4		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500766	102500766	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102500766C>T	uc001yks.2	+	55	10895	c.10731C>T	c.(10729-10731)gcC>gcT	p.A3577A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3577	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGAAAATGCCATCATGCTGA	0.483000														74			8		0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138787	64138787	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64138787C>T	uc001oae.3	+	16	2237	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	RPS6KA4_uc001oad.3_Silent_p.F712F|RPS6KA4_uc010rnl.2_Silent_p.F655F|RPS6KA4_uc001oaf.3_Silent_p.F711F|RPS6KA4_uc009ypp.3_Silent_p.F470F	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	718					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGGGCTTCTTCCTGAAGAGCG	0.672000														156			10		0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390679	49390679	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49390679G>T	uc001rsv.1	-	1	1998	c.1980C>A	c.(1978-1980)ccC>ccA	p.P660P		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	660	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TTCCAACCTCGGGCAGGGTCC	0.602000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			3		0.115264	0.115915	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38406258	38406258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38406258G>A	uc003jlc.2	+	6	1089	c.743G>A	c.(742-744)gGa>gAa	p.G248E	EGFLAM_uc003jlb.2_Missense_Mutation_p.G248E|EGFLAM_uc003jle.2_Missense_Mutation_p.G14E|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	248						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)					GGCCGCTATGGACCCCGTTAT	0.478000														33			5		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789835	96789835	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96789835G>A	uc010yui.2	-	8	1050	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	350					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCTTTTTCAGGGCAGGGGACT	0.672000														123			15		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650688	75650688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:75650688C>T	uc004ecm.2	+	0	2643	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	789	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.R789C(3)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCTGAATCGTGCTGCCCG	0.473000														34			12		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584106	88584106	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:88584106C>T	uc003hqv.3	+	5	1280	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	DMP1_uc003hqw.3_Silent_p.L376L	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	392					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CGCACACACTCTCCCACTCAA	0.542000														77			10		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975557	44975557	+	Missense_Mutation	SNP	T	A	A	rs140155770		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:44975557T>A	uc001wvn.3	-	0	943	c.634A>T	c.(634-636)Aat>Tat	p.N212Y		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	212						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCTGATATTTTTCTGCCCA	0.403000														71			5		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773203	60773203	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:60773203G>A	uc002sae.1	-	1	516	c.288C>T	c.(286-288)tcC>tcT	p.S96S	BCL11A_uc002sab.3_Silent_p.S96S|BCL11A_uc002sac.3_Silent_p.S96S|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Silent_p.S96S|BCL11A_uc002saf.1_Silent_p.S96S|BCL11A_uc010fcg.3_Silent_p.S96S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	96	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACGGGATTGGATGCTTTTT	0.473000			T	IGH@	B-CLL									417			214		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58541874	58541874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:58541874G>A	uc002enm.3	+	11	1197	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	NDRG4_uc002enk.3_Missense_Mutation_p.G266R|NDRG4_uc010vif.2_Missense_Mutation_p.G266R|NDRG4_uc002eno.3_Missense_Mutation_p.G234R|NDRG4_uc010cdk.3_Missense_Mutation_p.G252R|NDRG4_uc010vig.2_Missense_Mutation_p.G264R|NDRG4_uc010vih.2_Missense_Mutation_p.G179R|NDRG4_uc010vii.2_Missense_Mutation_p.G252R|NDRG4_uc002enp.3_Missense_Mutation_p.G234R|NDRG4_uc002enq.1_Intron	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	234					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCTGGTGGTTGGGGATAATGC	0.667000														79			5		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42474955	42474955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42474955G>A	uc002igw.2	-	7	4709	c.4490C>T	c.(4489-4491)cCc>cTc	p.P1497L	GPATCH8_uc002igv.2_Missense_Mutation_p.P1419L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P1419L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1497						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGGCTGGGGGGATGTTGCAG	0.587000														34			8		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566731	103566731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:103566731C>T	uc001ymk.3	+	0	251	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	59										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCCTTCTCCCGGGCCAGCCA	0.657000														13			3		0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329814	8329814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8329814G>A	uc001qud.1	+	4	610	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		ATGTGAAAAGGCCTATACTAA	0.388000														110			8		0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41414861	41414861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:41414861C>T	uc004dfk.4	-	14	1405	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R	CASK_uc004dfj.4_Missense_Mutation_p.G152R|CASK_uc004dfl.4_Missense_Mutation_p.G612R|CASK_uc004dfm.4_Missense_Mutation_p.G589R|CASK_uc004dfn.4_Missense_Mutation_p.G583R	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	612	L27 2.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACCTGTCGTCCTTTTGGTTGG	0.358000														4			4		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595678	140595678	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595678C>T	uc003lja.1	+	0	2170	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	661	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCACGTGCTCCTGGTGGACG	0.711000														82			8		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48378081	48378081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:48378081C>T	uc002phr.2	-	4	718	c.578G>A	c.(577-579)aGa>aAa	p.R193K		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	193					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)		CTCTATGGTTCTTCCTGTGTC	0.443000														29			10		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219714	79219714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79219714G>A	uc002jzz.1	-	15	3377	c.3002C>T	c.(3001-3003)cCg>cTg	p.P1001L	SLC38A10_uc002jzy.1_Missense_Mutation_p.P919L|SLC38A10_uc021uey.1_Missense_Mutation_p.P76L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	1001					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCCGCCTCTCGGCTGCTCGTG	0.697000														58			8		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103372	52103372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:52103372G>A	uc001jje.3	-	6	1457	c.503C>T	c.(502-504)cCa>cTa	p.P168L	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.P168L|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.P168L|SGMS1_uc021pqo.1_Missense_Mutation_p.P168L|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	174				P -> L (in Ref. 3; AAQ82051).	apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTCCGGTAGTGGAGGCTGCAC	0.458000														23			4		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41572498	41572498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41572498C>T	uc003xok.3	-	14	1781	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.G566E|ANK1_uc003xoj.3_Missense_Mutation_p.G566E|ANK1_uc003xol.3_Missense_Mutation_p.G566E|ANK1_uc003xom.3_Missense_Mutation_p.G599E	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	566	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACTTTTCCGGCAGCATT	0.587000														48			7		0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57322016	57322016	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57322016G>A	uc001nkn.2	-	2	300	c.204C>T	c.(202-204)atC>atT	p.I68I	UBE2L6_uc001nko.2_Silent_p.I2I	NM_004223	NP_937826	O14933	UB2L6_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2L 6 (UBE2L6), transcript variant 1, mRNA.	68					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						TTGTGAATTTGATCATGGGAG	0.537000														160			14		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113436179	113436179	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113436179G>A	uc001tuj.3	+	4	1112	c.972G>A	c.(970-972)ctG>ctA	p.L324L	OAS2_uc001tui.1_Silent_p.L324L	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	324	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCCCAACCTGGATAATGAGT	0.453000														68			4		0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72519788	72519788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72519788C>T	uc002jkx.2	-	2	497	c.484G>A	c.(484-486)Gga>Aga	p.G162R	CD300LB_uc010wqz.1_Missense_Mutation_p.G162R	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	125						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GAAGCCGCTCCCTCTAGACAC	0.552000														56			7		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579977	140579977	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140579977C>T	uc003liy.3	+	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	210	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTCAGTTTCATCCTCTCTG	0.493000														34			8		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102477	44102477	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44102477C>T	uc003owr.3	+	1	220	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TMEM63B_uc003owq.1_Silent_p.F52F|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	52						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCATGTGCTTCCTTGTAAGTG	0.612000														88			11		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225033	158225033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158225033G>A	uc001frt.3	+	1	751	c.218G>A	c.(217-219)gGa>gAa	p.G73E	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	73					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGTCCAGGGGAAACTTCAGC	0.483000														60			18		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475386	52475386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52475386G>A	uc003dea.1	-	6	707	c.707C>T	c.(706-708)tCt>tTt	p.S236F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	236	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTCCTGGTCAGAGTTCTCAGG	0.627000														41			5		0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847573	131847573	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:131847573T>A	uc004bxc.3	+	3	378	c.350T>A	c.(349-351)tTc>tAc	p.F117Y	DOLPP1_uc004bxd.3_Missense_Mutation_p.F117Y|DOLPP1_uc004bxe.3_Non-coding_Transcript	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	117					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TCCTTCCTTTTCCTGTATTTA	0.562000														99			7		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129714239	129714239	+	Missense_Mutation	SNP	C	T	T	rs145126760		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:129714239C>T	uc021zfb.1	+	36	5389	c.5284C>T	c.(5284-5286)Cgg>Tgg	p.R1762W	LAMA2_uc003qbn.3_Missense_Mutation_p.R1762W|LAMA2_uc003qbo.3_Missense_Mutation_p.R1762W	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1762	Domain II and I.				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)		TGGAGAGTCCCGGGGGGAAAA	0.468000														9			4		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61749456	61749456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:61749456C>T	uc003xue.3	+	16	4562	c.4070C>T	c.(4069-4071)tCt>tTt	p.S1357F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1357	Helicase C-terminal.				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)			AAACCTGATTCTGATAGGTTT	0.478000														74			8		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138671281	138671281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138671281G>A	uc011mdq.2	+	23	2880	c.2806G>A	c.(2806-2808)Gac>Aac	p.D936N	KCNT1_uc011mdr.2_Missense_Mutation_p.D763N|KCNT1_uc010nbf.3_Missense_Mutation_p.D891N|KCNT1_uc004cgo.1_Missense_Mutation_p.D685N	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	936						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGCGCCAAGGACAGCTACTC	0.617000														87			11		0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363980	79363980	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:79363980G>A	uc002soa.1	-	3		c.334C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		TTTAATCAGCGAAGCCACAAA	0.512000														26			5		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48563046	48563046	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48563046G>A	uc003ctv.3	-	9	1061	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	PFKFB4_uc003ctx.3_Silent_p.F305F|PFKFB4_uc010hkb.3_Silent_p.F341F|PFKFB4_uc003ctw.3_Silent_p.F157F|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Silent_p.F337F|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	348	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCGCAGGGCGAACTCCAGTG	0.562000														38			4		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43896246	43896246	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43896246C>T	uc001zsf.3	-	21	4401	c.4323G>A	c.(4321-4323)aaG>aaA	p.K1441K	STRC_uc010bdl.3_Silent_p.K668K|STRC_uc001zse.3_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1441					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGGCTGCTTTCTTGGCAGCAA	0.557000														22			5		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596789	142596789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:142596789C>T	uc004fbw.3	-	1	369	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	94										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGAAGATCCTTCAGATAA	0.433000														16			6		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690336	96690336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96690336C>T	uc002svf.3	-	14	1731	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N	GPAT2_uc002sve.3_Missense_Mutation_p.S305N|GPAT2_uc002svd.3_Missense_Mutation_p.S322N|GPAT2_uc002svg.3_Missense_Mutation_p.S382N|GPAT2_uc010yuh.2_Missense_Mutation_p.S432N|GPAT2_uc002svh.3_Missense_Mutation_p.S503N	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	503					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGCAGCAGGCTCCGCAGCTG	0.657000														48			20		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395127	3395127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3395127C>T	uc001akg.4	+	11	2013	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ARHGEF16_uc001aki.3_Missense_Mutation_p.R301C|ARHGEF16_uc001akj.3_Missense_Mutation_p.R301C|ARHGEF16_uc010nzh.2_Missense_Mutation_p.R293C	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	589	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GACCCTGCTTCGCAACAGCGA	0.672000														39			9		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630352	74630352	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74630352G>A	uc002axt.2	-	8	1682	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	CYP11A1_uc002axs.2_Silent_p.F351F|CYP11A1_uc010bjm.1_Silent_p.F351F|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	509					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCCAGAAGGTGAAGGAGATGG	0.547000														62			22		0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79946063	79946063	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:79946063G>A	uc001vkz.2	-	3	344	c.330C>T	c.(328-330)atC>atT	p.I110I	RBM26_uc001vky.2_Silent_p.I110I|RBM26_uc001vla.2_Silent_p.I110I|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_5'Flank	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	110					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCTCCTTAGTGATCTGATTAA	0.398000														19			4		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803199	144803199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144803199G>A	uc003yzj.3	+	9	988	c.947G>A	c.(946-948)cGa>cAa	p.R316Q		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	316					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGTGGGCACGAGAGGCAGAT	0.697000														18			4		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155194	151155194	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:151155194A>C	uc011bod.2	-	5	7155	c.7155T>G	c.(7153-7155)agT>agG	p.S2385R	IGSF10_uc011bob.2_Missense_Mutation_p.S412R|IGSF10_uc011boc.2_Missense_Mutation_p.S364R	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2385	Ig-like C2-type 10.				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)			GATACTGATAACTTTGTGGTC	0.403000														52			6		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692060	6692060	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6692060T>A	uc001qpo.3	-	27	4354	c.4190A>T	c.(4189-4191)gAt>gTt	p.D1397V	CHD4_uc001qpn.3_Missense_Mutation_p.D1390V|CHD4_uc001qpp.3_Missense_Mutation_p.D1422V|AK096395_uc001qpq.1_Missense_Mutation_p.I88N|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1397					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAATGGCTTATCTTTATCATT	0.458000														109			14		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956537	143956537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:143956537G>A	uc010mey.3	-	9	1454	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	CYP11B1_uc010mex.3_Missense_Mutation_p.R111C|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.R412C|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	412					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCGGGGTTGCGACCCAGAGAG	0.627000									Familial Hyperaldosteronism type I					86			7		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44679805	44679805	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44679805C>T	uc002oys.3	+	5	570	c.390C>T	c.(388-390)ttC>ttT	p.F130F	ZNF226_uc002oyp.3_Silent_p.F130F|ZNF226_uc002oyq.3_Silent_p.F13F|ZNF226_uc002oyr.3_Silent_p.F13F|ZNF226_uc002oyt.3_Silent_p.F130F	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AAGGTGATTTCCCTTACCAGG	0.383000														32			4		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49394988	49394988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49394988G>A	uc021wxw.1	-	1	525	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F	GPX1_uc021wxx.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	149					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CAGGTGATGAGCTTGGGGTCG	0.662000														52			4		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666741	57666742	+	Splice_Site	DNP	CT	AC	AC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:57666741_57666742CT>AC	uc002qoa.1	-	5	484	c.439_splice	c.e5-1	p.I147_splice		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		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)		GGAACCAAATCTAAGTGGTAAG	0.376000														32			6		0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81733756	81733756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:81733756G>A	uc003yby.2	-	1	306	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	25						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CATGGCCAAGGAAAACACGTG	0.453000														111			22		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094044	79094044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79094044G>A	uc010dia.3	-	10	3772	c.3692C>T	c.(3691-3693)gCc>gTc	p.A1231V	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Missense_Mutation_p.A1128V	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1231						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAGGACACGGCCTTCTTCTT	0.677000														35			4		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936933	119936933	+	Missense_Mutation	SNP	G	A	A	rs145316984		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:119936933G>A	uc003yon.4	-	4	1209	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	296	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463000														31			6		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115389428	115389428	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115389428C>T	uc001lal.3	-	18	2123	c.1959G>A	c.(1957-1959)agG>agA	p.R653R	NRAP_uc009xyb.3_5'Flank|NRAP_uc001laj.3_Silent_p.R653R|NRAP_uc001lak.3_Silent_p.R618R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	653						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)		GCAGTTTCTTCCTGTAGTCCA	0.507000														51			4		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5964857	5964857	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:5964857G>A	uc001alq.2	-	15	2231	c.1963C>T	c.(1963-1965)Cag>Tag	p.Q655*	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	655					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGTCCTGGGCCACTCTG	0.547000														60			15		0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324817	3324817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3324817C>T	uc010vrd.2	+	0	956	c.956C>T	c.(955-957)tCa>tTa	p.S319L		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GGGAAGCGATCACTGACCTGA	0.453000														52			14		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798270	24798270	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24798270G>A	uc001wow.3	-	9	1940	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	ADCY4_uc010toh.2_Silent_p.L193L|ADCY4_uc001wox.3_Silent_p.L507L|ADCY4_uc001woy.3_Silent_p.L507L	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	507					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	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CACATACCGGGAGAGGGGTGG	0.622000														86			6		0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14690314	14690314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:14690314C>T	uc003jfk.3	+	5	913	c.761C>T	c.(760-762)cCa>cTa	p.P254L		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	Homo sapiens family with sequence similarity 105, member B (FAM105B), mRNA.	254										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAGGAAGTACCATTTTTCTCT	0.428000														37			6		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756882	139756882	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139756882G>A	uc003vvl.1	-	2	1408	c.534C>T	c.(532-534)ctC>ctT	p.L178L	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	178						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCAGATATGGAGCTTGATGC	0.433000														98			7		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166187934	166187934	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166187934G>A	uc002udc.3	+	13	2534	c.2244G>A	c.(2242-2244)gtG>gtA	p.V748V	SCN2A_uc002udd.3_Silent_p.V748V|SCN2A_uc002ude.3_Silent_p.V748V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	748					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGTTAAAGGTGAAACACCTTG	0.413000														39			7		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542656	187542656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187542656G>A	uc003izf.3	-	9	5272	c.5084C>T	c.(5083-5085)tCa>tTa	p.S1695L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1695	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACCACTGATGATTGACTATG	0.388000										HNSCC(5;0.00058)				56			9		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10710777	10710777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10710777G>A	uc001aro.3	-	12	3172	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	CASZ1_uc001arp.1_Missense_Mutation_p.S951L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TAAAAGAGATGAATTTGCCGG	0.562000														153			13		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779589	36779589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779589C>T	uc003cgi.2	-	1	1053	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	188						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATTTGCCTCGGGAGACCTC	0.582000														72			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38985036	38985036	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38985036C>T	uc002oit.3	+	38	6449	c.6319C>T	c.(6319-6321)Caa>Taa	p.Q2107*	RYR1_uc002oiu.3_Nonsense_Mutation_p.Q2107*|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2107	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)	GCGCTGGGCCCAAGAGGACTT	0.672000														29			9		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43520130	43520131	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:43520130_43520131GG>AA	uc002rsw.4	-	31	5012_5013	c.4660_4661CC>TT	c.(4660-4662)cct>TTt	p.P1554F	THADA_uc010far.3_Missense_Mutation_p.P749F|THADA_uc002rsx.4_Missense_Mutation_p.P1554F|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1554							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCGCACTTCAGGGAAGGCAGAT	0.559000														429			24		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217842	45217842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45217842G>A	uc002xsf.2	-	6	1013	c.973C>T	c.(973-975)Cga>Tga	p.R325*	SLC13A3_uc010ghn.2_Nonsense_Mutation_p.R294*|SLC13A3_uc010zxx.2_Nonsense_Mutation_p.R227*|SLC13A3_uc010zxw.2_Nonsense_Mutation_p.R275*|SLC13A3_uc002xsg.2_Nonsense_Mutation_p.R278*|SLC13A3_uc010gho.2_Nonsense_Mutation_p.R278*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	325						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATTACAGCTCGAGCCCTATCT	0.483000														106			6		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651442	8651442	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8651442C>T	uc002mkj.1	-	20	2677	c.2403_splice	c.e20+1	p.M801_splice	ADAMTS10_uc002mki.1_Splice_Site_p.M288_splice|ADAMTS10_uc002mkk.1_Splice_Site_p.M433_splice	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	801	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						TCCCTGTTACCATGACGATGA	0.597000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			8		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171515	34171515	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34171515C>T	uc002hkd.3	+	14	1298	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	TAF15_uc002hkc.3_Silent_p.G401G	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	404	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAGAGAGGGGCTACAGAGGTC	0.572000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									100			9		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503339	39503339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39503339C>T	uc002hwk.1	-	3	761	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	242	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGCTCCACTTCCCTGCGGTTG	0.627000														47			7		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135340950	135340950	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135340950C>T	uc001lnj.1	+	0	84	c.51C>T	c.(49-51)ctC>ctT	p.L17L	CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	17					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CGGCCTTCCTCCTGCTGGTGT	0.642000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					83			9		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526224	189526224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:189526224C>T	uc003fry.2	+	3	577	c.488C>T	c.(487-489)cCc>cTc	p.P163L	TP63_uc003frx.2_Missense_Mutation_p.P163L|TP63_uc003frz.2_Missense_Mutation_p.P163L|TP63_uc010hzc.1_Missense_Mutation_p.P163L|TP63_uc003fsa.2_Missense_Mutation_p.P69L|TP63_uc003fsb.2_Missense_Mutation_p.P69L|TP63_uc003fsc.2_Missense_Mutation_p.P69L|TP63_uc003fsd.2_Missense_Mutation_p.P69L|TP63_uc021xir.1_Missense_Mutation_p.P69L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P44L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	163					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCCATCACCCGCCATCCCC	0.632000										HNSCC(45;0.13)				30			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90124979	90124979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:90124979G>A	uc003kju.3	+	76	16683	c.16587G>A	c.(16585-16587)atG>atA	p.M5529I	GPR98_uc003kjt.3_Missense_Mutation_p.M3235I|GPR98_uc003kjw.3_Missense_Mutation_p.M1190I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5529					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)		CAGGACTAATGATGTCTGTTA	0.423000														52			12		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227750	75227750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:75227750G>A	uc003yae.3	-	1	525	c.485C>T	c.(484-486)tCg>tTg	p.S162L	JPH1_uc003yaf.3_Missense_Mutation_p.S162L|JPH1_uc003yag.1_Missense_Mutation_p.S26L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	162					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)			CGAGGCCAGCGAGGTACGCAG	0.731000														31			5		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375767	375767	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:375767C>A	uc002lol.3	-	0	247	c.204G>T	c.(202-204)gaG>gaT	p.E68D	THEG_uc002lom.3_Missense_Mutation_p.E68D	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	68					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGCCACCTCCTCGGGGG	0.602000														97			22		6.44725e-10	6.53762e-10	1	1	0
RHCE	6006	broad.mit.edu	37	1	25747182	25747182	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25747182G>A	uc001bkf.3	-	0	182	c.96C>T	c.(94-96)acC>acT	p.T32T	RHCE_uc001bkg.3_Silent_p.T32T|RHCE_uc001bkh.3_Silent_p.T32T|RHCE_uc001bki.3_Silent_p.T32T|RHCE_uc001bkj.3_Intron	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	32						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCATAGTGGGTAAAAAAAT	0.532000														192			14		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370475	56370475	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56370475C>T	uc002qmd.4	+	2	2138	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	NLRP4_uc002qmf.3_Silent_p.L497L|NLRP4_uc010etf.3_Silent_p.L403L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	572							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)		CAGTGAACCTCCTCCAAGAAG	0.468000														49			4		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968016	4968016	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4968016G>A	uc010qys.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCATGAATGAAGAATTCCT	0.443000														76			5		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245804	33245804	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33245804G>A	uc001bvy.1	-	10	2004	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	YARS_uc001bvw.1_Silent_p.L66L|YARS_uc001bvx.1_Silent_p.L57L	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	406	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AACTGTACCAGGCCGCTCACC	0.577000														196			11		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129238473	129238473	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129238473C>T	uc003eml.3	+	29	3893	c.3687C>T	c.(3685-3687)cgC>cgT	p.R1229R	IFT122_uc003emm.3_Silent_p.R1178R|IFT122_uc003emn.3_Silent_p.R1119R|IFT122_uc003emo.3_Silent_p.R1068R|IFT122_uc003emp.3_Silent_p.R1028R|IFT122_uc010htc.3_Silent_p.R1171R|IFT122_uc011bky.2_Silent_p.R969R|IFT122_uc011bla.2_Silent_p.R952R|IFT122_uc003emr.3_Silent_p.R931R|IFT122_uc010hte.3_Silent_p.R504R|IFT122_uc003ems.3_Silent_p.R560R	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1178					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGCCGCCGGGATGTCC	0.642000														47			8		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5396314	5396314	+	Silent	SNP	C	T	T	rs148045283	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:5396314C>T	uc002kmt.1	-	18	2945	c.2859G>A	c.(2857-2859)acG>acA	p.T953T	EPB41L3_uc010wzh.1_Silent_p.T784T|EPB41L3_uc002kmu.1_Silent_p.T731T|EPB41L3_uc010dkq.1_Silent_p.T622T|EPB41L3_uc002kms.1_Silent_p.T188T|EPB41L3_uc010wze.1_Silent_p.T258T|EPB41L3_uc010wzf.1_Silent_p.T250T|EPB41L3_uc010wzg.1_Silent_p.T225T|EPB41L3_uc010dkr.2_Silent_p.T345T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	953	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.K952M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGATGGTTTCCGTCTTCACCG	0.453000														60			10		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763433	102763433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102763433C>T	uc001ksj.3	+	2	748	c.578C>T	c.(577-579)tCc>tTc	p.S193F	LZTS2_uc010qpw.2_Missense_Mutation_p.S193F|LZTS2_uc001ksk.3_Missense_Mutation_p.S193F|LZTS2_uc001ksl.3_Missense_Mutation_p.S193F|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	193	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		tcctcctcttcctcctcctct	0.642000														157			33		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150839663	150839663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150839663C>T	uc004fev.4	+	11	1557	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	409						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGATCACCTTCAGGTCAG	0.463000														29			13		0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45567819	45567819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45567819C>T	uc002pak.3	+	12	1438	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.S385F|CLASRP_uc002pam.3_Missense_Mutation_p.S447F	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	447	Arg-rich.|Ser-rich.				RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGTGGGGGCTCCCGAGACGGA	0.761000														19			5		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228591	174228591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:174228591C>T	uc002uic.1	+	4	798	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	CDCA7_uc002uid.1_Missense_Mutation_p.R144C|CDCA7_uc010zej.1_Missense_Mutation_p.R179C|CDCA7_uc010zek.1_Missense_Mutation_p.R102C	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	144					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGGCTCGTTCCGTGGAAGACA	0.418000														173			8		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19130257	19130258	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19130257_19130258GG>AA	uc002zou.3	-	1	322_323	c.285_286CC>TT	c.(283-288)tcccgg>tcTTgg	p.R96W		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	96					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGGGGCTCCCGGGACATCTTGC	0.584000														133			10		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134121243	134121243	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:134121243C>T	uc003kzw.3	+	10	1599	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	477	Helicase ATP-binding.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTAGAGTGGTCTGTGTTTACG	0.368000														57			4		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328081	80328081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:80328081G>A	uc001xun.3	+	16	3451	c.2960G>A	c.(2959-2961)gGg>gAg	p.G987E	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.G563E|NRXN3_uc010asw.3_Missense_Mutation_p.G385E|NRXN3_uc001xur.4_Missense_Mutation_p.G358E	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	563					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGCACAACAGGGATGGTCGTC	0.602000														25			6		0	0	1	0	0
OPN1MW	2652	broad.mit.edu	37	X	153490621	153490621	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153490621C>T	uc004fkd.3	+	1	439	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	119					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGCTACTTCGTGCTGGGCC	0.607000														71			8		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525236	248525236	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248525236C>T	uc001ieh.1	+	0	354	c.354C>T	c.(352-354)gtC>gtT	p.V118V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q117K(2)		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)			TGGACCAGGTCATGGGTGTGA	0.498000														61			6		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26862034	26862034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26862034G>A	uc010crm.3	+	7	1643	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	FOXN1_uc002hbj.3_Missense_Mutation_p.R482Q	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	482					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTTGAGCTGCGGGCCCAGCCA	0.677000														48			11		0	0	1	0	0
C3orf24	115795	broad.mit.edu	37	3	10146351	10146351	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10146351G>T	uc003buz.3	-	1	333	c.108C>A	c.(106-108)tcC>tcA	p.S36S	C3orf24_uc003bva.2_Silent_p.S36S|C3orf24_uc021wsy.1_Silent_p.S36S	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	36										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GGAAGCAGGGGGAGGCCTTGA	0.562000														77			5		4.096e-09	4.15159e-09	1	1	0
MAST1	22983	broad.mit.edu	37	19	12980016	12980016	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12980016C>T	uc002mvm.3	+	21	3038	c.2910C>T	c.(2908-2910)atC>atT	p.I970I		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	970	PDZ.				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						CCATCACCATCCAGCGCTCGG	0.582000														56			7		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150921921	150921921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150921921C>T	uc003lue.4	-	8	8780	c.8767G>A	c.(8767-8769)Gaa>Aaa	p.E2923K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2923	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCACCAGTTCGCCAGGCTCA	0.512000														85			16		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24433449	24433449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:24433449C>T	uc003ned.1	-	23	2513	c.2402G>A	c.(2401-2403)gGg>gAg	p.G801E		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	801						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GAGGGAGCTCCCAAACCTTGA	0.448000														85			8		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43501608	43501608	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43501608C>T	uc001zrb.4	-	5	1086	c.786G>A	c.(784-786)caG>caA	p.Q262Q	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Silent_p.Q232Q|EPB42_uc010udm.2_Silent_p.Q154Q	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	232					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCCTGGGTCTGCGGGGTGG	0.632000														64			4		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777262	60777262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60777262G>A	uc001nqq.3	+	4	1225	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Missense_Mutation_p.E334K|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.E334K|CD6_uc001nqt.3_Missense_Mutation_p.E334K	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	334	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAATGGGGAGGAGCTCACCCT	0.617000														39			8		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65491243	65491243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65491243C>T	uc002aon.2	-	8	1562	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	461					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCCTTTCCTCTGTCTTGGAG	0.592000														38			12		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069751	4069751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:4069751C>T	uc003mvx.3	-	6	1112	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.E173K	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	236																	GTGAAAGGTTCCTCAACATTT	0.378000														67			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065029	9065029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9065029G>A	uc002mkp.3	-	2	22621	c.22417C>T	c.(22417-22419)Cct>Tct	p.P7473S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7475	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						TTTGAGAAAGGATGAATTTTC	0.473000														39			4		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418876	44418876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44418876G>A	uc002oxu.2	-	3	811	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	ZNF45_uc002oxw.2_Missense_Mutation_p.H238Y	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	238					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACTCTCTGATGATGGGGAAGA	0.428000														76			10		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26906832	26906832	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26906832A>G	uc002hbq.3	-	16	2913	c.2821T>C	c.(2821-2823)Ttg>Ctg	p.L941L	ALDOC_uc002hbp.3_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	941					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTTCCAAGCAAGGGCACAGGA	0.527000														108			23		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151823	87151823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:87151823C>T	uc003ydp.1	+	2	509	c.440C>T	c.(439-441)cCt>cTt	p.P147L		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	147					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GCAGAGACACCTTCAGATCTC	0.413000														23			9		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713690	138713690	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138713690G>A	uc004cgr.4	-	10	2817	c.2817C>T	c.(2815-2817)taC>taT	p.Y939Y	CAMSAP1_uc004cgq.4_Silent_p.Y829Y|CAMSAP1_uc010nbg.3_Silent_p.Y661Y	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	939						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTGCTGAGAGTACTCCTTTG	0.597000														154			14		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7586077C>T	uc003mxp.1	+	23	8861	c.8582C>T	c.(8581-8583)tCc>tTc	p.S2861F	DSP_uc003mxq.1_Missense_Mutation_p.S2262F|DSP_uc021yle.1_Missense_Mutation_p.S2418F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2861	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.483000														117			29		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991122	47991122	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47991122C>T	uc002xur.1	-	1	1141	c.975G>A	c.(973-975)cgG>cgA	p.R325R	KCNB1_uc002xus.1_Silent_p.R325R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	325					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTAGCTCCTCCGCAAAGTGA	0.542000														28			4		0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21048471	21048471	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21048471G>A	uc009vpy.1	-	9	1588	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	SH2D5_uc001bdt.1_Silent_p.F278F|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	278										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGGCTGGGGAACTCTGCCG	0.662000														26			6		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6973921	6973921	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6973921C>T	uc001qri.4	+	17	2339	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	USP5_uc001qrh.4_Silent_p.F737F|TPI1_uc001qrk.3_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	760	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACTGGATCTTCAGTCACATTG	0.527000														59			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071744	9071744	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9071744G>A	uc002mkp.3	-	2	15906	c.15702C>T	c.(15700-15702)tcC>tcT	p.S5234S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5236	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						GGTCTGGGGTGGAAATTTTGC	0.478000														42			10		0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342118	42342118	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42342118C>T	uc002orp.1	-	3	1413	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LYPD4_uc002orq.1_Silent_p.P108P	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	143	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCACACAGGTCGGGCAGCTAC	0.493000														58			5		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767827	31767827	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:31767827G>A	uc002nsy.4	-	1	2937	c.2872C>T	c.(2872-2874)Cga>Tga	p.R958*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	958					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)					CCTGTCCTTCGAAGCTGGTAT	0.542000														35			6		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579077	55579077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55579077G>A	uc001nhw.1	+	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M45I(4)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACCTGGGCATGATTGCACTGA	0.488000														102			9		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115291	57115291	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:57115291G>A	uc002lib.3	-	6	769	c.699C>T	c.(697-699)atC>atT	p.I233I	CCBE1_uc010dpq.3_Missense_Mutation_p.S9L|CCBE1_uc002lia.3_Silent_p.I86I	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	233					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGTCACCAGTGATATACTTGC	0.597000														56			6		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319706	3319706	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3319706C>T	uc003ggw.3	+	1	2713	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	RGS12_uc003ggu.2_Silent_p.S603S|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.S603S|RGS12_uc003ggx.1_Silent_p.S603S	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	603						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)		GGGAGTGGTCCAGGAAGGCCT	0.577000														149			8		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595591	61595591	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61595591C>T	uc002yea.4	+	7	1018	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SLC17A9_uc002ydz.4_Silent_p.F272F|SLC17A9_uc011aap.1_Silent_p.F298F	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	278					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCTGGATCTTCAACGTGGTTC	0.622000														298			28		0	0	1	0	0
UQCR10	29796	broad.mit.edu	37	22	30163512	30163512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30163512C>T	uc003agq.1	+	0	155	c.125C>T	c.(124-126)gCt>gTt	p.A42V	ZMAT5_uc003agm.3_5'Flank|ZMAT5_uc003agn.3_5'Flank|ZMAT5_uc003ago.1_5'Flank|UQCR10_uc003agp.1_Missense_Mutation_p.A42V|UQCR10_uc021wns.1_Missense_Mutation_p.A42V	NM_013387	NP_037519	Q9UDW1	QCR9_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit X (UQCR10), transcript variant 1, mRNA.	42					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GGCGCGGACGCTATCTACGAC	0.607000														39			8		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651029	84651029	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:84651029C>T	uc002bjz.4	+	20	2873	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	ADAMTSL3_uc010bmt.1_Silent_p.I883I	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	883						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAGAAATCAAATCAGAGA	0.373000														25			8		0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229613413	229613413	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:229613413G>A	uc001htn.3	-	12	1779	c.1687C>T	c.(1687-1689)Caa>Taa	p.Q563*		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	563					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACACTGATTTGGGTAACTGCC	0.453000														30			7		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756822	139756822	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139756822G>A	uc003vvl.1	-	2	1468	c.594C>T	c.(592-594)tcC>tcT	p.S198S	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	198						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGAAATCATGGGATCTCTTAC	0.448000														87			15		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349192	55349192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55349192G>A	uc002qhm.1	+	2	278	c.232G>A	c.(232-234)Gat>Aat	p.D78N	KIR3DL2_uc010yfj.2_Missense_Mutation_p.D71N|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.D78N|KIR3DL2_uc002qhn.1_Missense_Mutation_p.D25N	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	173	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGAGCACCATGATGGGGTTTC	0.498000														159			13		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92361396	92361396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92361396C>T	uc010aue.3	-	5	996	c.523G>A	c.(523-525)Gat>Aat	p.D175N	FBLN5_uc010aud.3_Missense_Mutation_p.D139N|FBLN5_uc001xzx.4_Missense_Mutation_p.D134N	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	134	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGGTGGGAATCTGTTGCACAC	0.537000														54			9		0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3526983	3526983	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3526983C>T	uc010dtk.2	+	4	427	c.393C>T	c.(391-393)tcC>tcT	p.S131S	FZR1_uc002lxt.2_Silent_p.S131S|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	131					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGTATTCCCTTAGCACCA	0.657000														61			7		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11222211	11222211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11222211C>T	uc002mqk.4	+	7	1269	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	LDLR_uc010xlk.2_Missense_Mutation_p.P361L|LDLR_uc010xll.2_Missense_Mutation_p.P320L|LDLR_uc021upc.1_Missense_Mutation_p.P240L|LDLR_uc010xln.2_Missense_Mutation_p.P234L|LDLR_uc010xlo.2_Missense_Mutation_p.P193L|LDLR_uc010xlm.2_Missense_Mutation_p.P214L|LDLR_uc021upd.1_Missense_Mutation_p.P98L	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	361	EGF-like 2; calcium-binding (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGTCAGGATCCCGACACCTGC	0.597000														246			60		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28739452	28739453	+	Missense_Mutation	DNP	AG	CT	CT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:28739452_28739453AG>CT	uc002kwn.3	-	1	365_366	c.103_104CT>AG	c.(103-105)ctt>AGt	p.L35S	DSC1_uc002kwm.3_Missense_Mutation_p.L35S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	35					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGGAACTCGAAGATAAACTTTC	0.332000														30			4		0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751877	53751877	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:53751877C>T	uc003jph.2	+	0	447	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	86					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				AAGACATCATCATTCAGACCT	0.527000														40			8		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1246001	1246001	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1246001C>T	uc002cks.3	+	4	869	c.621C>T	c.(619-621)ctC>ctT	p.L207L	CACNA1H_uc002ckt.3_Silent_p.L207L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	207					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCGGCCCCTCCGCGCCATCA	0.662000														61			6		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156873738	156873738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156873738C>T	uc001fqj.1	+	1	136	c.20C>T	c.(19-21)cCc>cTc	p.P7L	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	7						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCTGTGTCCCCTCCTTCTC	0.642000														137			21		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564584	117564584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117564584G>A	uc010oxb.1	+	6	2465	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	CD101_uc009whd.3_Missense_Mutation_p.E803K|CD101_uc010oxc.1_Missense_Mutation_p.E803K|CD101_uc010oxd.1_Missense_Mutation_p.E741K	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	803					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.E803*(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGACTAACAGAATTGAAACT	0.483000														28			8		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40069012	40069012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40069012G>A	uc003ayc.3	+	27	4708	c.4708G>A	c.(4708-4710)Gag>Aag	p.E1570K	CACNA1I_uc003ayd.3_Missense_Mutation_p.E1535K|CACNA1I_uc003aye.3_Missense_Mutation_p.E1485K|CACNA1I_uc003ayf.3_Missense_Mutation_p.E1450K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1570					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACCCTGGAGGAGATCGAGAT	0.612000														77			15		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30202864	30202864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30202864G>A	uc003agr.3	-	9	1082	c.938C>T	c.(937-939)tCc>tTc	p.S313F	ASCC2_uc011akr.2_Missense_Mutation_p.S237F|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CCTGGAATGGGAGAGCCTCTG	0.512000														39			5		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36767781	36767781	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36767781A>C	uc003omr.1	-	3	317	c.250T>G	c.(250-252)Tac>Gac	p.Y84D	CPNE5_uc003oms.1_Missense_Mutation_p.Y46D	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	84	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCGAAAAAGTAATCCACAATG	0.522000														36			6		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62536422	62536422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:62536422C>T	uc001xfu.1	+	1	822	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	SYT16_uc010tsd.1_Missense_Mutation_p.R209C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	209								p.R209S(3)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCAGAGTTTCCGTTCAGTGAC	0.483000														25			7		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265376	75265376	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:75265376C>T	uc001xqj.4	+	4	3500	c.3376C>T	c.(3376-3378)Cga>Tga	p.R1126*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	931	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGGACCTCTTCGAAGGGCTGG	0.637000														25			4		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25715851	25715851	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:25715851G>A	uc003xes.2	-	13	1777	c.1512C>T	c.(1510-1512)acC>acT	p.T504T	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	504	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAGGAGAGCCGGTGGGTGAGC	0.473000														44			11		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814468	128814468	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:128814468C>T	uc003ifo.3	+	10	2491	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	PLK4_uc011cgs.2_Silent_p.F707F|PLK4_uc011cgt.2_Silent_p.F698F	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	739					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CAGAAGATTTCATTCAGGTGA	0.274000														28			4		0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42694972	42694973	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42694972_42694973GG>AA	uc002yzb.1	+	1	288_289	c.142_143GG>AA	c.(142-144)ggg>AAg	p.G48K	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Intron|FAM3B_uc011aeq.2_Missense_Mutation_p.G62K	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	48					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCGCAGCATCGGGGAGAGGCCT	0.609000														52			8		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443745	5443745	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5443745C>T	uc010qzd.2	+	0	405	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTTTTCTTCCTTCATGGAT	0.512000														87			11		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636697	83636697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:83636697C>T	uc003uhz.3	-	9	1427	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	371	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGGGACTCTTCCTTGATAAGG	0.438000														72			6		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910505	35910505	+	Missense_Mutation	SNP	C	T	T	rs145854210		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35910505C>T	uc003jjt.1	-	2	373	c.278G>A	c.(277-279)gGa>gAa	p.G93E	CAPSL_uc003jju.1_Missense_Mutation_p.G93E	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	93	EF-hand 2.					cytoplasm	calcium ion binding	p.G93E(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GTCTATTGTTCCATTTCCATC	0.373000														33			7		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73751256	73751256	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:73751256C>T	uc004ebt.2	+	5	1876	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	SLC16A2_uc010nlr.1_3'UTR	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	496						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCCTCTTCTTCGTCCCTCTGA	0.532000														20			5		0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267065	66267065	+	Silent	SNP	G	A	A	rs144195353		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66267065G>A	uc002jha.2	-	5	1549	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Silent_p.V412V	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	412						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CAATGCCCACGACATCATCCT	0.468000														48			8		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12434237	12434237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12434237G>A	uc003bwx.3	+	3	696	c.605G>A	c.(604-606)gGg>gAg	p.G202E	PPARG_uc003bwr.3_Missense_Mutation_p.G174E|PPARG_uc003bws.3_Missense_Mutation_p.G174E|PPARG_uc003bwu.3_Missense_Mutation_p.G174E|PPARG_uc003bwv.3_Missense_Mutation_p.G174E|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.G174E|PPARG_uc003bww.1_Missense_Mutation_p.G202E	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	202					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)	CTTGCAGTGGGGATGTCTCAT	0.378000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							56			6		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40319018	40319018	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40319018G>T	uc002omj.3	-	5	1006	c.726C>A	c.(724-726)ccC>ccA	p.P242P	DYRK1B_uc002omi.3_Silent_p.P242P|DYRK1B_uc002omk.3_Silent_p.P242P	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	242	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGATGTTTTCGGGCTTGAGGT	0.627000														31			3		0.115264	0.115915	1	1	0
ABL2	27	broad.mit.edu	37	1	179095588	179095589	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179095588_179095589GG>AA	uc001gmj.4	-	3	897_898	c.610_611CC>TT	c.(610-612)cct>TTt	p.P204F	ABL2_uc010pnf.2_Missense_Mutation_p.P204F|ABL2_uc010png.2_Missense_Mutation_p.P183F|ABL2_uc010pnh.2_Missense_Mutation_p.P183F|ABL2_uc009wxe.3_Missense_Mutation_p.P183F|ABL2_uc001gmg.4_Missense_Mutation_p.P189F|ABL2_uc001gmi.4_Missense_Mutation_p.P189F|ABL2_uc010pne.2_Missense_Mutation_p.P168F|ABL2_uc001gmk.3_Missense_Mutation_p.P168F|ABL2_uc009wxf.2_Missense_Mutation_p.P189F	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	204	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CAGCTGCCCAGGGCTACTCTCA	0.540000			T	ETV6	AML									56			10		0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12062089	12062089	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12062089C>T	uc001atn.4	+	10	1542	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	MFN2_uc009vni.3_Silent_p.V363V	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCACACGGTCCGGGCCAAGC	0.602000														149			19		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193603	68193603	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68193603C>T	uc001ont.3	+	15	3660	c.3585C>T	c.(3583-3585)gtC>gtT	p.V1195V	LRP5_uc009ysg.3_Silent_p.V605V	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1195	Beta-propeller 4.				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						AGGGCCGTGTCGCCCACCTCA	0.627000														75			5		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592942	158592942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158592942C>T	uc001fst.1	-	42	6150	c.5951G>A	c.(5950-5952)aGa>aAa	p.R1984K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1984					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)					CTCGGGAAGTCTCTCTTGCTG	0.498000														237			30		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070916	53070916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53070916G>A	uc001sau.1	-	5	1240	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	KRT1_uc001sav.1_Missense_Mutation_p.S394L	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	394	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TTCTATCTTTGAATTTCTCAC	0.418000														64			11		0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406279	3406279	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3406279C>T	uc002cuw.1	+	0	391	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGAGTGCATCCTGCTGGTGG	0.582000														36			4		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133474262	133474262	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133474262C>T	uc003epu.2	+	9	2286	c.558C>T	c.(556-558)ttC>ttT	p.F186F	TF_uc011bls.1_Silent_p.F186F|TF_uc011blt.2_Silent_p.F59F|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.F186F	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	186	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGACGGACTTCCCCCAGCTGT	0.572000														53			8		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802694	137802694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137802694C>T	uc003ldb.1	+	1	826	c.556C>T	c.(556-558)Cag>Tag	p.Q186*		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	186					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTCCGCCTCCCAGAGCCCACC	0.637000														134			7		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573396	27573396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:27573396G>A	uc001rht.2	+	16	2061	c.1842G>A	c.(1840-1842)atG>atA	p.M614I	ARNTL2_uc001rhu.2_Missense_Mutation_p.M600I|ARNTL2_uc001rhv.2_Missense_Mutation_p.M566I|ARNTL2_uc001rhw.3_Missense_Mutation_p.M577I|ARNTL2_uc010sjp.2_Silent_p.*541*|ARNTL2_uc009zji.2_Missense_Mutation_p.M580I|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	614					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTGCATTTATGAATTACTTAG	0.448000														72			5		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599417	50599417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50599417G>A	uc003bjj.3	+	25	3570	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	MOV10L1_uc003bjk.4_Missense_Mutation_p.E1117K|MOV10L1_uc011arp.2_Intron|MOV10L1_uc003bjl.3_Missense_Mutation_p.E290K	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1163					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)		TGCTTTGCTGGAATACAGTAT	0.502000														196			9		0	0	1	0	0
HSPA7	3311	broad.mit.edu	37	1	161576375	161576375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161576375G>A	uc010pkp.1	+	0	527	c.295G>A	c.(295-297)Gag>Aag	p.E99K						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		GGTGGTGAGCGAGGGCGGCAA	0.622000														76			20		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926469	6926469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6926469G>A	uc002mfw.3	+	15	2117	c.2079G>A	c.(2077-2079)atG>atA	p.M693I	EMR1_uc010dvc.3_Missense_Mutation_p.M628I|EMR1_uc010dvb.3_Missense_Mutation_p.M641I|EMR1_uc010xji.2_Missense_Mutation_p.M552I|EMR1_uc010xjj.2_Missense_Mutation_p.M516I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	693					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)					TGTTCTTGATGGTCAGAAACC	0.537000														97			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725839	140725839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140725839C>T	uc003ljm.2	+	0	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R747W	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	757					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)			GGACGGGGTTCGGGCTTTCCT	0.657000														94			10		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114899620	114899621	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:114899620_114899621GG>AA	uc003ibq.1	-	0	1258_1259	c.370_371CC>TT	c.(370-372)cca>TTa	p.P124L	ARSJ_uc010imu.1_Missense_Mutation_p.P124L|ARSJ_uc010imv.1_5'UTR	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	124						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ACTCCTGGATGGTGTGCAAATA	0.401000														49			9		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030123	95030123	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95030123C>G	uc010avd.3	+	1	689	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V	SERPINA4_uc001ydk.3_Missense_Mutation_p.L102V|SERPINA4_uc001ydl.3_Missense_Mutation_p.L102V	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	102					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R138G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAGCCAGATCCTTGAGGGCCT	0.632000														30			7		0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65649946	65649946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65649946G>A	uc001ogc.1	+	4	529	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_001335	NP_001326	P56202	CATW_HUMAN	Homo sapiens cathepsin W (CTSW), mRNA.	163					immune response|proteolysis		cysteine-type endopeptidase activity	p.E163D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AGGCAACATAGAGACCCTGTG	0.642000														78			5		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023569	130023569	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:130023569C>T	uc003vpx.3	+	5	702	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CPA1_uc011kpf.1_Silent_p.L122L|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	210					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.L210L(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCGCCATTCTCGACACCTTGG	0.607000														138			11		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739884	41739884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:41739884C>T	uc003thq.3	-	0	324	c.89G>A	c.(88-90)aGc>aAc	p.S30N	INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.S30N|INHBA-AS1_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	30					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.S30R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGGCCGCGCTGTGCCCCTC	0.587000										TSP Lung(11;0.080)				317			25		0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104486483	104486483	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:104486483C>T	uc001kwb.2	+	1	256	c.90C>T	c.(88-90)atC>atT	p.I30I	SFXN2_uc001kwc.2_Non-coding_Transcript	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	Homo sapiens sideroflexin 2 (SFXN2), mRNA.	30					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCCTAAACATCACGGACCCCC	0.592000														70			10		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66409920	66409920	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:66409920T>C	uc021xzk.1	+	11	1772	c.1464T>C	c.(1462-1464)ttT>ttC	p.F488F	MAST4_uc003jus.3_Silent_p.F299F|MAST4_uc003jut.2_Silent_p.F299F|MAST4_uc003juu.1_Silent_p.F309F|MAST4_uc011cra.1_Silent_p.F282F|MAST4_uc003juv.2_Silent_p.F294F|MAST4_uc003juw.3_Silent_p.F294F	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	491						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCTAGGAATTTGATCCGGAAG	0.403000														42			7		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564927	46564927	+	Missense_Mutation	SNP	G	A	A	rs139294318	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46564927G>A	uc001ncv.2	-	6	954	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P214S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P214S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P214S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	214					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCATCTATGGGGATCTCTGGT	0.527000														64			7		0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75457446	75457446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75457446G>A	uc009xri.3	-	0	109	c.68C>T	c.(67-69)tCg>tTg	p.S23L	AGAP5_uc001juu.4_5'UTR	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GGGACACACCGACCCCTGTTG	0.607000														111			9		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286926	152286926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152286926C>T	uc001ezu.1	-	2	472	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	146					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)			CCCCCTGTTTCTCTTGGGCTC	0.348000									Ichthyosis					83			14		0	0	1	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858321	27858321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27858321G>A	uc003nka.3	-	0	250	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.	84					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTCTGGAAACGAAGGTCGGTT	0.562000														64			4		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239036292	239036292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239036292C>T	uc002vxq.4	+	6	1242	c.1132C>T	c.(1132-1134)Cat>Tat	p.H378Y	ESPNL_uc010fyw.3_Missense_Mutation_p.H74Y	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	378	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGCCTGGCCATCCTGACCA	0.657000														24			7		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038969	185038969	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:185038969C>T	uc003iwc.3	-	3	760	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	206					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGGCATCTTTCCTCTGCGGAG	0.582000														98			12		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724849	32724849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:32724849C>T	uc010ezu.3	+	45	8838	c.8704C>T	c.(8704-8706)Cgt>Tgt	p.R2902C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2902					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATCTTATTCGTCCGGGTGA	0.433000														126			45		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483346	59483346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59483346C>T	uc002lih.1	-	1	763	c.351G>A	c.(349-351)atG>atA	p.M117I	RNF152_uc021ula.1_Missense_Mutation_p.M117I	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	117					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGCGGCAGCCCATGTCTCCGG	0.652000														44			8		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37538546	37538546	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37538546C>T	uc003aqv.1	-	3	341	c.210G>A	c.(208-210)tgG>tgA	p.W70*		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	70					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGTTTGGTTCCACCGCCTTT	0.582000														78			9		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447256	22447256	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22447256C>T	uc010tmm.2	+	1	429	c.237C>T	c.(235-237)atC>atT	p.I79I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		TTAAAGGCATCAACGGTTTTG	0.458000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			4		0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967895	54967895	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:54967895C>T	uc010igp.1	+	1	985	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	241						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TTACCTGAACCTGTCGGAGAA	0.547000														136			7		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55119069	55119069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55119069C>T	uc010ooe.1	+	2	794	c.470C>T	c.(469-471)tCa>tTa	p.S157L	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.S157L|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.S157L|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	157						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGTGCCTCTCAAGTAAGATT	0.493000														72			6		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10108068	10108068	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10108068G>A	uc002mmq.1	-	10	1328	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			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)			GGTCGCCAGGGAATCCTGGGG	0.592000														42			4		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393463	164393463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164393463C>T	uc003iqp.4	-	0	1585	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	475						cytoplasm	metal ion binding|transketolase activity	p.R475Q(2)		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)				TTGGCTGGTTCGAATGAAGCA	0.453000														95			5		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137636	33137636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:33137636G>A	uc003ocx.1	-	49	3890	c.3662C>T	c.(3661-3663)cCa>cTa	p.P1221L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1135L|COL11A2_uc003ocz.1_Missense_Mutation_p.P1114L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1221	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGGATCCCTGGAGATCCTGA	0.547000														76			10		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118360595	118360595	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118360595C>T	uc001lco.1	+	9	963	c.945C>T	c.(943-945)ttC>ttT	p.F315F	PNLIPRP1_uc001lcp.2_Silent_p.F315F	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	315					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACAAGTGCTTCCCGTGTCCAG	0.443000														60			7		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158813902C>T	uc001fsz.1	+	3	760	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	187					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCAACACTTCGTTTACTCCG	0.493000														84			10		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11441515	11441515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11441515C>T	uc021zzo.1	-	22	4570	c.4318G>A	c.(4318-4320)Gga>Aga	p.G1440R	THSD7A_uc021zzn.1_Missense_Mutation_p.G1438R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1440	TSP type-1 15.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACCTGTATTCCACCAAAGCCT	0.438000										HNSCC(18;0.044)				43			5		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409006	17409006	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17409006G>A	uc001mna.3	-	0	1201	c.633C>T	c.(631-633)atC>atT	p.I211I	KCNJ11_uc001mnb.4_Silent_p.I124I	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	124						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGGTGGCGCTGATGATCATGC	0.637000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		441			45		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006118	74006118	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74006118C>T	uc010wss.1	-	21	3462	c.3234G>A	c.(3232-3234)ctG>ctA	p.L1078L	EVPL_uc002jqi.2_Silent_p.L1056L|EVPL_uc010wst.1_Silent_p.L526L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1056	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTCCTTCTTCAGCCCTTCCA	0.612000														139			28		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115298574	115298574	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:115298574G>A	uc003kro.3	+	0	424	c.260G>A	c.(259-261)tGg>tAg	p.W87*	AQPEP_uc003krp.3_Non-coding_Transcript|AX747550_uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	87					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCGAGCAACTGGCGACCCCCG	0.692000														41			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183694641	183694641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183694641C>T	uc003ivd.1	+	21	4984	c.4909C>T	c.(4909-4911)Cgt>Tgt	p.R1637C		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1637					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)		CAGTGAAGGTCGTCTGACAAA	0.403000														70			17		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148640	34148640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:34148640C>T	uc004ddg.3	-	0	1808	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	586										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						GGTGTATCTTCCTGAAGCAGT	0.493000														31			4		0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509700	125509700	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125509700C>T	uc001uha.1	+	2	623	c.480C>T	c.(478-480)atC>atT	p.I160I	DL490908_uc021rgk.1_5'Flank	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	160						integral to membrane|mitochondrial outer membrane		p.W159S(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCTTCTGGATCGTGCGGGTCG	0.627000														97			7		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249002	124249002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124249002G>A	uc001lgj.2	+	2	765	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	213	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GTCGGAAGATGGACTGATCGT	0.498000														100			5		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028151	38028151	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38028151C>T	uc010efm.3	+	7	1033	c.591C>T	c.(589-591)ttC>ttT	p.F197F	ZNF793_uc010xts.2_Silent_p.F197F	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAAGCTTTCACCCAGAACC	0.458000														25			4		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595296	36595296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36595296G>A	uc021qgb.1	+	0	442	c.442G>A	c.(442-444)Gct>Act	p.A148T	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.A148T	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	148	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAAAGAGAGCTACTTCCTG	0.493000									Familial Hemophagocytic Lymphohistiocytosis					21			3		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220156215	220156215	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220156215G>A	uc002vkz.3	-	19	2947	c.2706C>T	c.(2704-2706)tcC>tcT	p.S902S	PTPRN_uc010zlc.2_Silent_p.S812S|PTPRN_uc002vla.3_Silent_p.S873S	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	902	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGATGGGGCAGGAGCGGCCCC	0.587000														56			4		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44917141	44917141	+	Missense_Mutation	SNP	C	T	T	rs144132963		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:44917141C>T	uc010skz.1	-	17	2206	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E	NELL2_uc001rof.3_Missense_Mutation_p.G643E|NELL2_uc001rog.2_Missense_Mutation_p.G644E|NELL2_uc001roh.2_Missense_Mutation_p.G644E|NELL2_uc009zkd.2_Missense_Mutation_p.G596E|NELL2_uc010sla.1_Missense_Mutation_p.G667E|NELL2_uc001roi.1_Missense_Mutation_p.G644E	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	644					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G644E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTTAACTTTTCCATCATGGAT	0.403000														92			10		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028607	13028607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:13028607C>T	uc010sho.2	+	0	197	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGCTTTCCTCCGCAAGCGGAT	0.572000														15			3		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349775	233349775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233349775C>T	uc002vsv.2	-	3	1087	c.882G>A	c.(880-882)atG>atA	p.M294I	ECEL1_uc010fya.1_Missense_Mutation_p.M294I|ECEL1_uc010fyb.1_Missense_Mutation_p.M1I	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	294					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCACTCGCTCCATGAACACCC	0.647000														34			7		0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24253872	24253872	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:24253872G>T	uc002rep.2	-	3	2228	c.2097C>A	c.(2095-2097)gtC>gtA	p.V699V	C2orf44_uc010eya.2_3'UTR	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	699							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGTAAAGACTTTAAGAG	0.468000			T	ALK	NSCLC									40			11		4.68919e-08	4.74937e-08	1	1	0
AOC4	90586	broad.mit.edu	37	17	41019511	41019511	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41019511C>T	uc002ibw.1	+	0	350	c.216C>T	c.(214-216)cgC>cgT	p.R72R	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		CTGTGATGCGCTTTCTGACCC	0.637000														154			8		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16748449	16748449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16748449G>A	uc001ayn.3	-	3	535	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Intron	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	18							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCAGGAAGGGGTTGACTGTC	0.587000														170			22		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758607	62758607	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:62758607C>A	uc010ihh.3	+	6	1683	c.1510C>A	c.(1510-1512)Cga>Aga	p.R504R	LPHN3_uc003hcq.4_Silent_p.R504R|LPHN3_uc003hcs.1_Silent_p.R333R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	504					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R504Q(1)		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						TGTGGAAGCCCGAGAAATCAT	0.488000														12			4		1	1	1	1	0
VWF	7450	broad.mit.edu	37	12	6103305	6103305	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6103305C>T	uc001qnn.1	-	36	6571	c.6321G>A	c.(6319-6321)tgG>tgA	p.W2107*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2107	VWFD 4.				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)	CAAGTGTTTTCCAGTCTGTGG	0.522000														50			5		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775158	72775158	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72775158C>T	uc002llw.2	+	7	5534	c.5481C>T	c.(5479-5481)ttC>ttT	p.F1827F		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1827					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)		GAGCCACCTTCGTGGAGACAG	0.607000														123			19		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670559	25670559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:25670559G>A	uc001upy.3	+	0	284	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	75	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CATGAATTTTGATGTTATAAA	0.478000														32			5		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139809070	139809070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139809070C>T	uc003yvd.3	-	11	2035	c.1588G>A	c.(1588-1590)Ggt>Agt	p.G530S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	530	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTTTTCACCCTTTTCCCCT	0.463000										HNSCC(7;0.00092)				204			9		0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19186759	19186759	+	Silent	SNP	C	T	T	rs147412182		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:19186759C>T	uc002gvd.4	+	2	775	c.327C>T	c.(325-327)ttC>ttT	p.F109F	EPN2_uc002gvc.2_Silent_p.F109F|EPN2_uc010vyn.1_Silent_p.F109F|EPN2_uc010cql.1_Intron|EPN2_uc002gve.4_Silent_p.F109F|EPN2_uc002gvf.4_Intron|EPN2_uc010vyo.2_Intron|EPN2_uc002gvh.1_Silent_p.F109F|EPN2_uc010vyp.2_Silent_p.F109F|EPN2_uc010vyq.2_Silent_p.F109F	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	109	ENTH.				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)					TGAAGGACTTCCAGTACATTG	0.572000														29			4		0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89002984	89002984	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89002984A>T	uc002bmj.2	-	3	725	c.700T>A	c.(700-702)Ttc>Atc	p.F234I	MRPL46_uc002bmi.1_3'UTR	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	234						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGTGCTTTGAAGAAGAACACC	0.498000														44			5		0	0	1	0	0
PRTN3	5657	broad.mit.edu	37	19	843546	843546	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:843546G>A	uc002lqa.1	+	1	171	c.147G>A	c.(145-147)ggG>ggA	p.G49G	PRTN3_uc021umb.1_Silent_p.G8G	NM_002777	NP_002768	P24158	PRTN3_HUMAN	Homo sapiens proteinase 3 (PRTN3), mRNA.	49	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGCGGGGGAACCCGGGCA	0.711000														11			4		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839542	19839542	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19839542G>A	uc002zqg.3	-	1	842	c.243C>T	c.(241-243)ccC>ccT	p.P81P	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Silent_p.P81P|C22orf29_uc002zqi.3_Silent_p.P81P|C22orf29_uc021wli.1_Silent_p.P81P	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	81										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GCCCAGCTAGGGGACCCCTTT	0.632000														64			5		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15842143	15842143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15842143C>T	uc003gol.1	+	6	928	c.821C>T	c.(820-822)tCc>tTc	p.S274F	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	274					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ATTCAATTTTCCTGCAAGAAT	0.348000														36			6		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337387	22337387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22337387G>A	uc021rpg.1	+	1	241	c.178G>A	c.(178-180)Gga>Aga	p.G60R	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.																		GCAAGAACTTGGAAAAGGACC	0.428000														105			6		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228464220	228464220	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228464220A>G	uc009xez.1	+	21	6334	c.6290A>G	c.(6289-6291)gAg>gGg	p.E2097G	OBSCN_uc001hsn.3_Missense_Mutation_p.E2097G|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2097	Ig-like 21.				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)				GCTACCATGGAGGTGCAGCTG	0.701000														63			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152484282	152484282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152484282C>T	uc021vrb.1	-	63	9198	c.9169G>A	c.(9169-9171)Gac>Aac	p.D3057N	NEB_uc002txu.3_Missense_Mutation_p.D3300N|NEB_uc021vrc.1_Missense_Mutation_p.D3300N|NEB_uc010fnx.3_Missense_Mutation_p.D3045N|NEB_uc021vrd.1_Missense_Mutation_p.D3057N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3057					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTGGGGTCATCTTCAATG	0.453000														114			25		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677037	7677037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7677037C>T	uc002mgu.4	+	12	1840	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	CAMSAP3_uc002mgv.4_Missense_Mutation_p.S553L|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	553					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCGGTGGCTTCGTCCCCAGCA	0.647000														13			4		0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463975	150463976	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150463975_150463976CC>TT	uc001euq.3	+	4	625_626	c.618_619CC>TT	c.(616-621)cgccag>cgTTag	p.Q207*	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Nonsense_Mutation_p.Q207*|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Nonsense_Mutation_p.Q207*	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	207					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ATCAGCTTCGCCAGTTGTTCAA	0.535000														89			15		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824989	74824989	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74824989G>A	uc021rwl.1	+	0	1503	c.1503G>A	c.(1501-1503)agG>agA	p.R501R	VRTN_uc001xpw.4_Silent_p.R501R	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	501					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCCACTAAGGATGCCCCTGT	0.672000														91			5		0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45967506	45967506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45967506G>A	uc001ncc.4	-	13	1958	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L	PHF21A_uc001ncb.4_Intron|PHF21A_uc009ykx.3_Intron|PHF21A_uc001nce.2_Missense_Mutation_p.P446L|PHF21A_uc001nca.1_Missense_Mutation_p.P181L	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	445					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GGGGGATGTTGGGGTAAGGGC	0.517000														98			7		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001465	49001465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49001465C>T	uc002pjk.3	-	11	2948	c.2948G>A	c.(2947-2949)aGa>aAa	p.R983K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TTTCTCTTCTCTCTCGGGGGA	0.647000														87			8		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36290136	36290136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36290136C>T	uc003oly.3	-	8	1733	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	519										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCGTGTGGCCTCTAGCCTGG	0.582000														86			12		0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68352445	68352446	+	RNA	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:68352445_68352446GG>AA	uc002sed.1	-	8		c.1095_1096CC>TT						Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.						apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GTGAGCCCTTGGGCCGCATCTC	0.500000														48			5		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017293	32017293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32017293C>T	uc003nzl.2	-	27	9707	c.9505G>A	c.(9505-9507)Gag>Aag	p.E3169K	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3216	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAACTCCCCCAGGAGC	0.652000														357			56		0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47485900	47485900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:47485900G>A	uc004dih.3	-	7	1201	c.959C>T	c.(958-960)tCg>tTg	p.S320L	CFP_uc004dig.4_Missense_Mutation_p.S320L|CFP_uc004dii.1_Missense_Mutation_p.S256L|CFP_uc010nhu.2_Missense_Mutation_p.S320L	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	320	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CTCCCCCCACGAGTCCCACTC	0.617000														18			3		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41419077	41419077	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:41419077C>T	uc001rmm.1	+	20	2762	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	CNTN1_uc001rmn.1_Silent_p.A872A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	883	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.G882W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGTCGGGGCCTGCAATAGTG	0.473000														56			6		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360022	40360022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:40360022C>T	uc003oph.1	-	2	2495	c.2030G>A	c.(2029-2031)aGg>aAg	p.R677K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	677						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)					GGCTGGAGTCCTGGAGTCCAG	0.731000														14			6		0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211451573	211451573	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:211451573C>T	uc010psw.2	+	5	826	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Nonsense_Mutation_p.Q211*|RCOR3_uc001hif.3_Nonsense_Mutation_p.Q211*|RCOR3_uc001hig.3_Nonsense_Mutation_p.Q153*	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TAGACATAATCAGGGTGACAG	0.378000														71			16		0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207510695	207510695	+	Missense_Mutation	SNP	C	T	T	rs12135160		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207510695C>T	uc001hfq.4	+	7	1295	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CD55_uc001hfr.4_Missense_Mutation_p.S334F|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.S270F|CD55_uc009xce.3_Missense_Mutation_p.S334F	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	334	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACACCTGTTTCCAGGACAACC	0.423000														29			4		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077060	10077060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10077060G>A	uc002mmq.1	-	63	4798	c.4712C>T	c.(4711-4713)tCg>tTg	p.S1571L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1571	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.S1571S(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)			AACCCTGAACGAGTCCCGCGC	0.612000														42			7		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929304	4929304	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4929304G>A	uc010qyq.2	+	0	705	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K235N(2)|p.L234P(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGGCTTAAGGCCCTAAATA	0.478000														35			8		0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9406785	9406786	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9406785_9406786CC>TT	uc003bro.4	+	1	181_182	c.33_34CC>TT	c.(31-36)ctccta>ctTTta	p.11_12LL>LL	LOC440944_uc003brm.3_Intron|THUMPD3_uc003brn.4_Silent_p.11_12LL>LL	NM_001114092	NP_056268	Q9BV44	THUM3_HUMAN	Homo sapiens THUMP domain containing 3 (THUMPD3), transcript variant 2, mRNA.	11							RNA binding|methyltransferase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CTAACCAACTCCTAGATGTGAA	0.431000														71			5		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549404	33549404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33549404G>A	uc003jia.1	-	20	4373	c.4210C>T	c.(4210-4212)Cac>Tac	p.H1404Y	ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1319Y	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1404	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AACTGGCAGTGAAATGGCCTC	0.597000										HNSCC(64;0.19)				80			7		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976923	72976923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:72976923G>A	uc001xna.4	+	13	1550	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	RGS6_uc021rvv.1_Missense_Mutation_p.D308N|RGS6_uc010ttn.2_Missense_Mutation_p.D343N|RGS6_uc021rvw.1_Missense_Mutation_p.D343N|RGS6_uc021rvx.1_Missense_Mutation_p.D343N|RGS6_uc021rvy.1_Missense_Mutation_p.D306N|RGS6_uc021rvz.1_Missense_Mutation_p.D306N|RGS6_uc001xmy.4_Missense_Mutation_p.D343N|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D343N|RGS6_uc021rwa.1_Missense_Mutation_p.D306N|RGS6_uc021rwb.1_Missense_Mutation_p.D306N|RGS6_uc010ttp.1_Missense_Mutation_p.D274N|RGS6_uc021rwc.1_Missense_Mutation_p.D204N	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	343	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GATATTGAAGGACCAGGTGGG	0.463000														131			16		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159286	39159286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39159286G>A	uc003oon.3	-	4	1244	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	294					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCTTGGAAAGAAAGCTGAAG	0.607000														181			12		0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905618	144905618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:144905618G>A	uc022cfn.1	+	0	1675	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	SLITRK2_uc004fcd.3_Missense_Mutation_p.E559K|SLITRK2_uc010nsp.3_Missense_Mutation_p.E559K|SLITRK2_uc010nso.3_Missense_Mutation_p.E559K|SLITRK2_uc011mwq.2_Missense_Mutation_p.E559K|SLITRK2_uc011mwr.2_Missense_Mutation_p.E559K|SLITRK2_uc011mws.2_Missense_Mutation_p.E559K|SLITRK2_uc004fcg.3_Missense_Mutation_p.E559K|SLITRK2_uc011mwt.2_Missense_Mutation_p.E559K	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	559	LRRCT 2.					integral to membrane		p.E559K(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGACTTGCGAATCTCCTGC	0.498000														24			4		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356846	42356846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:42356846G>A	uc001wvm.3	+	2	2216	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	LRFN5_uc010ana.3_Missense_Mutation_p.G340R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	340	Ig-like.					integral to membrane		p.G340V(1)|p.N339Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTATGATAACGGAACACTTGA	0.448000										HNSCC(30;0.082)				45			5		0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91492652	91492652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91492652C>T	uc002bqg.3	+	13	2325	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	UNC45A_uc002bqd.3_Missense_Mutation_p.S647F|UNC45A_uc010uqr.2_Missense_Mutation_p.S54F|UNC45A_uc021suj.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	662					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTGACCAGTTCCTGCAGAGAG	0.627000														231			14		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235009	100235009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100235009G>A	uc003hus.4	-	5	881	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ADH1B_uc003hut.4_Missense_Mutation_p.S226L|ADH1B_uc011ceh.2_Missense_Mutation_p.S111L|ADH1B_uc011cei.1_Missense_Mutation_p.S226L	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	266					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.S266L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000														74			4		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124377955	124377955	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124377955C>T	uc001uft.4	+	51	8842	c.8817C>T	c.(8815-8817)acC>acT	p.T2939T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2939	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGGGGACACCCTGAGGACCT	0.582000														61			5		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164064	150164064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150164064G>A	uc003whj.3	+	1	608	c.278G>A	c.(277-279)aGc>aAc	p.S93N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	93						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCTGCTCCCAGCCTCCATGCT	0.512000														74			8		0	0	1	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145464086	145464086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:145464086G>A	uc003lnv.3	-	3	515	c.443C>T	c.(442-444)tCc>tTc	p.S148F	PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA.	148										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCAGATGGAAAAAGCCCA	0.517000														66			16		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687649	21687649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:21687649C>T	uc002wsj.2	+	1	914	c.860C>T	c.(859-861)cCc>cTc	p.P287L	PAX1_uc010zsl.2_Missense_Mutation_p.P287L|PAX1_uc010zsm.2_Missense_Mutation_p.P263L	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	287					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.S286S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCTCATGGCCCTCGGCACAC	0.662000														26			4		0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31816309	31816309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:31816309C>T	uc009yjr.3	-	7	1020	c.551G>A	c.(550-552)gGa>gAa	p.G184E	PAX6_uc001mtd.4_Missense_Mutation_p.G184E|PAX6_uc001mte.4_Missense_Mutation_p.G184E|PAX6_uc001mtg.4_Missense_Mutation_p.G198E|PAX6_uc001mtf.4_Missense_Mutation_p.G184E|PAX6_uc001mth.4_Missense_Mutation_p.G184E|PAX6_uc021qfl.1_Missense_Mutation_p.G198E|PAX6_uc021qfm.1_Missense_Mutation_p.G198E|PAX6_uc021qfn.1_Missense_Mutation_p.G184E	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	184	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGTATTCTCTCCCCCTCCTTC	0.463000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					79			4		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163811	161163811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161163811G>A	uc001fyt.4	-	4	1890	c.1462C>T	c.(1462-1464)Ccc>Tcc	p.P488S		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	488	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCGGCCCAGGGCGAGTGTTTG	0.657000														64			10		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61083838	61083838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:61083838G>A	uc010qif.1	-	3	485	c.419C>T	c.(418-420)tCa>tTa	p.S140L	FAM13C_uc010qid.2_Missense_Mutation_p.S35L|FAM13C_uc001jkn.3_Missense_Mutation_p.S118L|FAM13C_uc001jko.3_Missense_Mutation_p.S118L|FAM13C_uc010qie.2_Missense_Mutation_p.S35L|FAM13C_uc001jkp.3_Missense_Mutation_p.S35L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	118										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGACACTCTGACTGGCTGGA	0.478000														30			8		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380190	147380190	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147380190C>T	uc021ovm.1	+	0	108	c.108C>T	c.(106-108)atC>atT	p.I36I	GJA8_uc001epu.2_Silent_p.I36I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	36					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGATCCTCATCCTTGGCACGG	0.587000														64			4		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375975	118375975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118375975C>T	uc001pta.3	+	26	9382	c.9359C>T	c.(9358-9360)tCa>tTa	p.S3120L	MLL_uc001ptb.3_Missense_Mutation_p.S3123L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3120					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACAAATACTTCAGTATTGGGA	0.443000			"""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"""									98			10		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231157414	231157414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231157414G>A	uc002vql.3	+	19	1994	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.E513K|SP140_uc002vqm.3_Missense_Mutation_p.E567K|SP140_uc010fxl.3_Missense_Mutation_p.E600K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	627	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACCCCCACGGAATTTGAAAT	0.507000														99			21		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172518	7172518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7172518G>A	uc001qsj.3	+	8	1351	c.632G>A	c.(631-633)gGg>gAg	p.G211E	C1S_uc001qsk.3_Missense_Mutation_p.G211E|C1S_uc001qsl.3_Missense_Mutation_p.G211E|C1S_uc009zfr.3_Missense_Mutation_p.G44E|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	211	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGAGAAAGGGTTCCAAGTG	0.478000														109			15		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017845	161017845	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161017845C>T	uc001fxl.3	-	11	3312	c.2966G>A	c.(2965-2967)tGg>tAg	p.W989*	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Nonsense_Mutation_p.W778*|ARHGAP30_uc001fxm.3_Nonsense_Mutation_p.W835*|ARHGAP30_uc009wtx.3_Nonsense_Mutation_p.W662*	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	989					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCATTCCTCCAAGAGGATCG	0.592000														76			19		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811354	84811354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:84811354G>A	uc010fgb.3	+	14	2598	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	DNAH6_uc002soo.3_Missense_Mutation_p.E400K|DNAH6_uc002sop.3_Missense_Mutation_p.E400K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	821	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CGAAGTGAATGAAGTAAAACT	0.299000														40			5		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49233689	49233689	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49233689G>A	uc001rsm.3	-	4	509	c.418C>T	c.(418-420)Cag>Tag	p.Q140*		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	140	Glu-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GATAATGGCTGGGCCTGAAGA	0.453000														47			9		0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30457361	30457361	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:30457361C>T	uc002rne.2	+	1	325	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.	39					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GCAAGGATGGCCTTTCCTACC	0.567000														43			13		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480389	37480389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37480389C>T	uc003aqt.1	-	9	1204	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.R390K|TMPRSS6_uc003aqu.3_Missense_Mutation_p.R381K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	390	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ATACTTCTGCCTCCTCAGTGC	0.622000														28			3		0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	197009663	197009663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:197009663G>A	uc010ial.3	-	3	464	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.R69C|DLG1_uc003fxn.4_Missense_Mutation_p.R69C|DLG1_uc011bue.2_Missense_Mutation_p.R69C|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.R69C	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	69					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GGCTTTGAACGATCTATACAT	0.358000														85			8		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331756	28331756	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28331756C>T	uc002dpd.3	+	3	1578	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	263	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						ACGCCTTCTTCGAGGAGTTCG	0.711000														39			5		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541002	178541002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:178541002G>A	uc003mjw.3	-	21	3604	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1168					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCAGGCCATGGATTTTGTAG	0.522000														88			18		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124331842	124331842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124331842C>T	uc001lgk.1	+	4	306	c.200C>T	c.(199-201)tCc>tTc	p.S67F	DMBT1_uc001lgl.1_Missense_Mutation_p.S67F|DMBT1_uc001lgm.1_Missense_Mutation_p.S67F|DMBT1_uc021qaf.1_Missense_Mutation_p.S67F|DMBT1_uc021qag.1_Missense_Mutation_p.S67F|DMBT1_uc021qah.1_Missense_Mutation_p.S67F|DMBT1_uc009xzz.1_Missense_Mutation_p.S67F|DMBT1_uc010qtx.1_Missense_Mutation_p.S67F|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	67					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)				TCTCCGATTTCCTTGGAGTCA	0.522000														88			11		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34298119	34298119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:34298119C>T	uc021uiv.1	+	18	2955	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F	FHOD3_uc002kzs.1_Missense_Mutation_p.S778F|FHOD3_uc002kzt.1_Missense_Mutation_p.S761F|FHOD3_uc010dmz.1_Missense_Mutation_p.S493F|FHOD3_uc010dna.1_Missense_Mutation_p.S81F	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	761	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGGAGAGGTTCCATCTCCCCT	0.547000														91			12		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158492715	158492715	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:158492715C>T	uc003qqx.2	+	14	2128	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F	SYNJ2_uc003qqw.2_Silent_p.F674F|SYNJ2_uc003qqy.2_Silent_p.F437F|SYNJ2_uc003qqz.2_Silent_p.F291F|SYNJ2_uc003qra.2_Silent_p.F17F	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	674							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCTTCCAGTTCCACAGCACCA	0.587000														73			6		0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786678	160786678	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:160786678G>A	uc003fdr.3	+	3	917	c.816G>A	c.(814-816)ctG>ctA	p.L272L	PPM1L_uc003fds.3_Silent_p.L93L|PPM1L_uc003fdt.3_Silent_p.L145L|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	272	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATTATCCGCTGAAAAATCTCA	0.532000														37			4		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34712476	34712476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:34712476C>T	uc002nvb.4	+	8	1397	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	LSM14A_uc002nva.4_Missense_Mutation_p.R401C|LSM14A_uc010xru.2_Missense_Mutation_p.R360C|LSM14A_uc002nvc.4_Missense_Mutation_p.R207C	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	401					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)					AATCCCACTTCGTCCAAACCG	0.507000														42			4		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408781	105408781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105408781G>A	uc010axc.1	-	6	13127	c.13007C>T	c.(13006-13008)tCc>tTc	p.S4336F	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S4236F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4336						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGGCT	0.617000														202			40		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039877	62039877	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62039877G>A	uc002yey.1	-	15	1953	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	KCNQ2_uc002yez.1_Silent_p.I561I|KCNQ2_uc002yfa.1_Silent_p.I574I|KCNQ2_uc002yfb.1_Silent_p.I564I	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	592					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCCGCCCCACGATCTGGTCCA	0.697000														19			4		0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70263427	70263427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70263427G>A	uc001joi.3	-	3	531	c.383C>T	c.(382-384)tCa>tTa	p.S128L	SLC25A16_uc010qiy.2_Missense_Mutation_p.S30L|SLC25A16_uc001joj.3_Missense_Mutation_p.S30L	NM_152707	NP_689920	P16260	GDC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA.	128					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CACATGACCTGAAATTCCCAG	0.294000														77			19		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845482	44845482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44845482G>A	uc002xrm.2	-	3	1220	c.821C>T	c.(820-822)cCg>cTg	p.P274L	CDH22_uc010ghk.1_Missense_Mutation_p.P274L|CDH22_uc002xrn.2_Missense_Mutation_p.P25L	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	274	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAAACGGGGCGGGTTGTCATT	0.622000														93			6		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116445248	116445248	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:116445248C>A	uc001tvw.3	-	10	2261	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	736					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTCTCCGTCCCTTGTTTGCAT	0.408000														27			4		0.150653	0.151351	1	1	0
PTBP2	58155	broad.mit.edu	37	1	97236284	97236284	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:97236284C>T	uc001drq.3	+	4	555	c.309C>T	c.(307-309)acC>acT	p.T103T	PTBP2_uc001drn.2_Silent_p.T103T|PTBP2_uc001dro.2_Silent_p.T103T|PTBP2_uc010otz.1_Silent_p.T114T|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Silent_p.T51T|PTBP2_uc001drr.3_Silent_p.T103T|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Silent_p.T103T	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	103	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AACTAGCAACCGAGGAAGCAG	0.303000														45			4		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990955	47990955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47990955C>T	uc002xur.1	-	1	1308	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	KCNB1_uc002xus.1_Missense_Mutation_p.G381E	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	381					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAGATGTCTCCATACCCAAC	0.512000														44			6		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27888772	27888772	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27888772G>A	uc003xgm.4	-	14	2039	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	632						nucleus	GTP binding|GTPase activity	p.N631H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CCTGGATCAGGAAATTTTTTT	0.448000														118			11		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184787863	184787863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:184787863C>T	uc001gra.3	-	8	1276	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	361					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACTGAATCCCGAGCTCAC	0.537000														106			5		0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82036269	82036269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:82036269C>T	uc001kbw.3	-	5	886	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	211					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.E211K(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGATGTCTTCGTTGTGCTGC	0.582000														106			8		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519866	53519866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:53519866C>T	uc003pcb.4	-	1	346	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AGGAAGTTCTCCTGCCGCATT	0.428000														45			5		0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151152	11151152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11151152G>A	uc001asa.3	-	4	612	c.562C>T	c.(562-564)Cga>Tga	p.R188*	EXOSC10_uc001asb.3_Nonsense_Mutation_p.R188*|EXOSC10_uc009vmy.1_Nonsense_Mutation_p.R188*	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	188					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATCTTCTCTCGAAACTTGAGC	0.388000														82			35		0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145532615	145532615	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145532615C>T	uc003zbt.4	+	1	311	c.141C>T	c.(139-141)ttC>ttT	p.F47F	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	47						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TCCACGTGTTCGACCAGGGCC	0.627000														97			5		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905650	2905650	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2905650G>A	uc002cry.1	-	3	550	c.484C>T	c.(484-486)Cta>Tta	p.L162L		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	162	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCATCAGGTAGGCAGATGGGC	0.592000														72			9		0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219757816	219757817	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219757816_219757817CC>TT	uc002vjd.1	+	3	1540_1541	c.1077_1078CC>TT	c.(1075-1080)ggccgc>ggTTgc	p.R360C		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	360			R -> C (found in a patient with unclassified form of ectodermal dysplasia).		Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCGTGGGCCGCCTGTGCAA	0.728000														30			11		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26501100	26501100	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26501100C>T	uc003xfb.2	+	8	1388	c.957C>T	c.(955-957)tcC>tcT	p.S319S	DPYSL2_uc003xfa.3_Silent_p.S424S|DPYSL2_uc011lag.2_Silent_p.S319S|DPYSL2_uc011lah.2_Silent_p.S283S	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	319					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TTCTCAACTCCTTGCTGTCCT	0.532000														48			10		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214209112	214209112	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:214209112C>T	uc001hkh.3	+	4	2421	c.2149C>T	c.(2149-2151)Ctg>Ttg	p.L717L		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	717	Prospero-like.				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)		CATCTGCAAGCTGGATAGTGA	0.418000														36			12		0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793550	100793550	+	Missense_Mutation	SNP	C	T	T	rs117307527	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100793550C>T	uc001yhc.3	+	3	243	c.170C>T	c.(169-171)tCg>tTg	p.S57L	SLC25A47_uc001yhd.3_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	57					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.S57L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CGGGGCCTCTCGCTGCCCGTG	0.672000														122			6		0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582786	51582786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51582786G>A	uc021uyk.1	-	4	653	c.434C>T	c.(433-435)cCc>cTc	p.P145L	KLK14_uc002pvs.1_Missense_Mutation_p.P145L	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	145	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GACCTCAATGGGCCTGACTGC	0.647000														36			4		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844561	3844561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3844561G>A	uc002fwy.2	-	13	1977	c.1804C>T	c.(1804-1806)Ccg>Tcg	p.P602S	ATP2A3_uc002fwz.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxa.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxb.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxc.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxd.2_Missense_Mutation_p.P602S|ATP2A3_uc002fwx.2_Missense_Mutation_p.P602S	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	602					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTCGCGGCGGGTCCAGCATG	0.647000														61			6		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561593	45561593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45561593G>A	uc001zva.2	+	13	1491	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	476					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGAGTGGACAGACTGTCCAAT	0.438000														47			6		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942450	2942450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:2942450G>A	uc003bpc.3	+	10	1361	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	CNTN4_uc003bpb.1_Missense_Mutation_p.G13E|CNTN4_uc021wsg.1_Missense_Mutation_p.G341E|CNTN4_uc003bpd.1_Missense_Mutation_p.G341E|CNTN4_uc003bpe.3_Missense_Mutation_p.G13E|CNTN4_uc003bpf.3_Missense_Mutation_p.G13E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	341	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAGCAAATGGAAGGCCTAAG	0.388000														30			5		0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21270057	21270057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21270057C>T	uc021rop.1	-	0	171	c.171G>A	c.(169-171)atG>atA	p.M57I	RNASE1_uc001vyf.3_Missense_Mutation_p.M57I|RNASE1_uc001vyg.3_Missense_Mutation_p.M57I|RNASE1_uc001vyh.3_Missense_Mutation_p.M57I|RNASE1_uc001vyi.3_Missense_Mutation_p.M57I	NM_198235	NP_937878	P07998	RNAS1_HUMAN	Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA.	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		GGCGCCTCATCATTTGGTTAC	0.552000														50			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238062	21238062	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21238062G>A	uc002red.3	-	22	3707	c.3579C>T	c.(3577-3579)ttC>ttT	p.F1193F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1193					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATCCACAGGGAAATTGGAAG	0.408000														349			150		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035753	32035753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32035753C>T	uc003nzl.2	-	17	6431	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2155	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGTCTCTTCCTCTGCAGCT	0.632000														285			17		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65271728	65271728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65271728C>T	uc001xht.3	-	1	280	c.229G>A	c.(229-231)Gat>Aat	p.D77N	SPTB_uc001xhr.3_Missense_Mutation_p.D77N|SPTB_uc001xhs.3_Missense_Mutation_p.D77N|SPTB_uc001xhu.3_Missense_Mutation_p.D77N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	77	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.D77N(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTGTAGAGATCGGTGATGCGG	0.567000														69			5		0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253682	32253682	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:32253682G>A	uc002yov.3	-	0	193	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	54						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CTTGACAGTGGTCCAGGAGCC	0.577000														26			10		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62486935	62486935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62486935G>A	uc002jei.3	-	3	1045	c.947C>T	c.(946-948)cCt>cTt	p.P316L	POLG2_uc021ubq.1_Missense_Mutation_p.P49L|POLG2_uc010deg.2_Missense_Mutation_p.P316L	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	316					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CACATTGCCAGGATACATGTG	0.383000														43			5		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564092	140564092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140564092C>T	uc003liv.3	+	0	3113	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	653	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.711000														64			6		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31313513	31313513	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:31313513C>T	uc003jhe.2	+	7	1702	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	CDH6_uc003jhd.2_Nonsense_Mutation_p.R448*	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	448	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTTCTTGACCGAGAAACACT	0.413000														51			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22550623	22550623	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22550623G>A	uc021wml.1	+	14		c.1434G>A								Parts of antibodies, mostly variable regions.																		TCTCTGGACTGAAGACTGAGG	0.532000														50			5		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34874044	34874044	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:34874044C>T	uc003teh.1	+	5	857	c.729C>T	c.(727-729)acC>acT	p.T243T	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.T243T|NPSR1_uc010kwt.1_Silent_p.T90T|NPSR1_uc010kwu.1_Silent_p.T33T|NPSR1_uc010kwv.1_Silent_p.T177T|NPSR1_uc003tei.1_Silent_p.T243T|NPSR1_uc010kww.1_Silent_p.T232T|NPSR1_uc011kar.1_Silent_p.T177T|NPSR1-AS1_uc010kwy.3_5'Flank|NPSR1-AS1_uc003tek.4_5'Flank	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	243						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AAAGCAAAACCTACGAAACAG	0.418000														17			5		0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91072412	91072412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:91072412C>T	uc003yel.1	-	10	957	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	CALB1_uc011lge.1_Missense_Mutation_p.G202R	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	259						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAGTTATCCCCAGCACAGAGA	0.393000														24			6		0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63834042	63834042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:63834042C>T	uc010ypv.2	+	8	1157	c.980C>T	c.(979-981)tCa>tTa	p.S327L	MDH1_uc002scj.2_Missense_Mutation_p.S309L|MDH1_uc010ypw.2_Missense_Mutation_p.S220L	NM_001199111	NP_001186040	P40925	MDHC_HUMAN	Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), transcript variant 1, mRNA.	309					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	p.A327A(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	AATGATTTCTCACGTGAGAAG	0.343000														49			10		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499303	150499303	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150499303G>A	uc003whx.1	+	3	253	c.175_splice	c.e3-1	p.V59_splice	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	59						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCTTTCAGGTGATGCAGAT	0.547000														64			7		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762574	43762574	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43762574G>A	uc002owd.4	-	4	1122	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	PSG9_uc002owe.4_Silent_p.F248F|PSG9_uc010xwm.2_Silent_p.F248F|PSG9_uc002owf.4_Silent_p.F155F|PSG9_uc002owg.2_Silent_p.F248F	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	341	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAATAGGTGAATGAAGGGT	0.463000														134			8		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128411004	128411004	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:128411004G>A	uc003qbk.3	-	7	1663	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PTPRK_uc010kfc.3_Silent_p.F432F|PTPRK_uc003qbj.3_Silent_p.F432F|PTPRK_uc011ebu.2_Silent_p.F432F|PTPRK_uc003qbl.1_Silent_p.F302F|PTPRK_uc011ebv.1_Silent_p.F432F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	432	Fibronectin type-III 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGACCACGGAAGTAATGGT	0.483000														22			3		0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73181206	73181206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73181206G>A	uc001xnc.2	-	5	542	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.R177C|DPF3_uc010ttq.1_Missense_Mutation_p.R187C	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	177			R -> H (in dbSNP:rs17855717).		chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCAGAGCCGCGAGCCTGGGGA	0.597000														57			5		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392330	45392330	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45392330G>A	uc001zun.3	-	23	3305	c.3102C>T	c.(3100-3102)ttC>ttT	p.F1034F	DUOX2_uc010bea.3_Silent_p.F1034F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1034	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTTCTCCACGAAGCGCTTGT	0.562000														38			7		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47202212	47202212	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47202212C>T	uc010fbb.3	+	3	986	c.618C>T	c.(616-618)atC>atT	p.I206I	TTC7A_uc002rvm.3_Silent_p.I172I|TTC7A_uc002rvn.1_Silent_p.I87I|TTC7A_uc002rvo.3_Silent_p.I206I|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.I87I	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	206							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCCTGGATCGCTCAGGTGT	0.547000														119			7		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42361077	42361077	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:42361077G>A	uc001wvm.3	+	3	3208	c.2010G>A	c.(2008-2010)agG>agA	p.R670R	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	670						integral to membrane		p.N669N(1)|p.N669K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACACTAACAGGAACAACTCAA	0.453000										HNSCC(30;0.082)				38			5		0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495472	6495472	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6495472G>A	uc002mfg.1	-	3	1145	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	TUBB4A_uc002mff.1_Silent_p.P274P|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	346					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TCACGTTGTTGGGGATCCACT	0.632000														207			35		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120329	38120329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38120329C>T	uc003atr.3	+	6	2037	c.1766C>T	c.(1765-1767)tCt>tTt	p.S589F	TRIOBP_uc003atu.3_Missense_Mutation_p.S417F|TRIOBP_uc003atq.1_Missense_Mutation_p.S589F|TRIOBP_uc003ats.1_Missense_Mutation_p.S417F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	589					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)					AGAGCCTCCTCTCCCAATAGA	0.582000														163			24		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758215	207758215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207758215C>T	uc001hfy.3	+	24	4314	c.4174C>T	c.(4174-4176)Cgt>Tgt	p.R1392C	CR1_uc009xcl.1_Missense_Mutation_p.R942C|CR1_uc001hfx.3_Missense_Mutation_p.R1842C|CR1_uc021pij.1_Missense_Mutation_p.R1392C	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1392					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			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						ACTTTCTGTTCGTGCTGGTCA	0.488000														20			4		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991175	47991175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47991175G>A	uc002xur.1	-	1	1088	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	KCNB1_uc002xus.1_Missense_Mutation_p.L308F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	308					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAAGCTTAAGGATGCGGAGA	0.547000														58			5		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468481	72468481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:72468481C>T	uc001jrg.3	+	3	817	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R273C	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						CTCGGTGGTTCGCTTCCATGG	0.617000														88			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38702323	38702323	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38702323G>A	uc021yzh.1	+	4	793	c.684G>A	c.(682-684)ccG>ccA	p.P228P	DNAH8_uc003ooe.2_Silent_p.P11P	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.P11P(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCAGCCCCGGATAAACTAA	0.353000														36			5		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27005189	27005189	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27005189C>T	uc010crt.3	+	9	1287	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	SUPT6H_uc002hby.3_Silent_p.F365F	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	365					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)					CCCTGGGCTTCATGCGAAATC	0.488000														48			5		0	0	1	0	0
HMBS	3145	broad.mit.edu	37	11	118963727	118963727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118963727C>T	uc001puz.1	+	12	1065	c.908C>T	c.(907-909)gCc>gTc	p.A303V	HMBS_uc001pva.1_Missense_Mutation_p.A263V|HMBS_uc001pve.1_Missense_Mutation_p.A246V|HMBS_uc001pvf.1_Missense_Mutation_p.A286V	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	303					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CATGTCCCTGCCCAGGTACCA	0.502000														48			6		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102760	3102760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3102760G>A	uc001akf.3	+	1	191	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PRDM16_uc001ake.3_Missense_Mutation_p.E37K|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.E37K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	37					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)		CGCGGAGGACGAGGCCGAGGA	0.637000			T	EVI1	"""MDS, AML"""									78			6		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490512	128490512	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128490512C>T	uc003vnz.4	+	31	5582	c.5373C>T	c.(5371-5373)ttC>ttT	p.F1791F	FLNC_uc003voa.4_Silent_p.F1758F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1791					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						TCATCCCCTTCGCGGTGCAGA	0.607000														126			15		0	0	1	0	0
FAM20B	9917	broad.mit.edu	37	1	179023749	179023749	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179023749C>T	uc001gmc.3	+	3	843	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_014864	NP_055679	O75063	XYLK_HUMAN	Homo sapiens family with sequence similarity 20, member B (FAM20B), mRNA.	184						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CACAGAGCAGCTGTTGAGCAC	0.448000														34			4		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378687	31378687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31378687C>T	uc003tch.3	-	1	549	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	NEUROD6_uc022abi.1_Missense_Mutation_p.E66K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	66					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						tcttcctcttccctgtcttcc	0.468000														94			14		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216462752	216462752	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216462752C>T	uc001hku.1	-	11	2228	c.1841_splice	c.e11-1	p.G614_splice	USH2A_uc001hkv.3_Splice_Site_p.G614_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	614	Laminin EGF-like 2.				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)		ACAGTTCCTTCCTGCATCAGG	0.393000										HNSCC(13;0.011)				42			8		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071590	132071590	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:132071590G>A	uc010htp.2	+	8	981	c.891G>A	c.(889-891)caG>caA	p.Q297Q	ACPP_uc003eon.3_Silent_p.Q264Q|ACPP_uc003eop.4_Silent_p.Q297Q	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	297						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTGGCCTACAGATGGCGCTAG	0.433000														23			6		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66200031	66200031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:66200031C>T	uc001xin.3	+	9	3069	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C	FUT8_uc001xio.3_Missense_Mutation_p.R448C|FUT8_uc010tsp.2_Missense_Mutation_p.R285C|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.R448C|FUT8_uc001xiq.3_Missense_Mutation_p.R319C|FUT8_uc021ruy.1_Missense_Mutation_p.R319C	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	448					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AAATTCACTTCGTGGAGTGAT	0.368000														41			5		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227963492	227963492	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227963492G>A	uc021vxr.1	-	17	1223	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	COL4A4_uc021vxs.1_Silent_p.F374F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	374	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGCGGCCAGGGAACCCTGGGT	0.502000														29			4		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062607	46062607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46062607G>A	uc003cpe.3	-	2	1057	c.833C>T	c.(832-834)tCc>tTc	p.S278F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.S278F|XCR1_uc021wwx.1_Missense_Mutation_p.S278F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	278					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAGCAGTGGGAGAAGGCGAG	0.577000														25			5		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43857890	43857890	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43857890C>T	uc002owi.3	+	0	66	c.24C>T	c.(22-24)gcC>gcT	p.A8A	CD177_uc021uvf.1_Silent_p.A8A|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	8					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TACTGCTGGCCCTCCTGGGGT	0.562000														109			7		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656823	31656824	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31656823_31656824GG>AA	uc003nvy.2	-	12	1233_1234	c.1154_1155CC>TT	c.(1153-1155)ccc>cTT	p.P385L	ABHD16A_uc003nvx.2_Missense_Mutation_p.P166L|ABHD16A_uc011dny.2_Missense_Mutation_p.P352L|ABHD16A_uc010jtc.2_Missense_Mutation_p.P166L|ABHD16A_uc011dnz.2_Missense_Mutation_p.P166L	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	385						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCAAGGCCAAGGGCACCAGGTC	0.584000														193			11		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677792	62677792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62677792G>A	uc021qko.1	-	0	781	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	CHRM1_uc001nwi.3_Missense_Mutation_p.R261C	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	261					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CGGCAGCAGCGACAGCAGCGG	0.652000														109			12		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817099	43817099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43817099G>A	uc001zrt.3	+	3	3895	c.3428G>A	c.(3427-3429)cGa>cAa	p.R1143Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1143						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R1143R(1)		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)	TATCCTGACCGAAGCCTCTCT	0.572000														55			5		0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226413481	226413481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226413481G>A	uc010pvm.2	+	1	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	223					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CTCATGGGAGGAACACATCTT	0.498000														153			7		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863957	6863957	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6863957C>T	uc003gjr.4	+	6	2311	c.1848C>T	c.(1846-1848)ccC>ccT	p.P616P	KIAA0232_uc003gjq.4_Silent_p.P616P	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	616							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GACTCTCTCCCATCTTAGACA	0.463000														18			4		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41447273	41447273	+	Missense_Mutation	SNP	G	A	A	rs34110144		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41447273G>A	uc010ehh.1	+	4	726	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AAACCTACAGGAAATCAATGC	0.517000														100			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665314	179665315	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179665314_179665315GG>AA	uc021vsy.1	-	3	615_616	c.390_391CC>TT	c.(388-393)atccct>atTTct	p.P131S	TTN_uc021vsz.1_Missense_Mutation_p.P131S|TTN_uc021vta.1_Missense_Mutation_p.P131S|TTN_uc021vtb.1_Missense_Mutation_p.P131S|TTN_uc002unb.2_Missense_Mutation_p.P131S|TTN_uc002und.3_Missense_Mutation_p.P131S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	131	Ig-like 2.						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)			ACAGGTGTAGGGATTCCAGTCA	0.520000														76			10		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61570796	61570796	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61570796G>A	uc002jau.2	+	20	2947	c.2913_splice	c.e20-1	p.R971_splice	ACE_uc010wpj.2_Splice_Site_p.R397_splice|ACE_uc010ddv.2_Splice_Site_p.R198_splice|ACE_uc002jav.2_Splice_Site_p.R397_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R217_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	971	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)	ACTATTCCTAGGATCAAGCAG	0.562000														85			13		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203621973	203621973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203621973C>T	uc010zhx.2	+	5	1152	c.1142C>T	c.(1141-1143)cCc>cTc	p.P381L		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	381										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCTCCACCCCCCCTTGTACAG	0.493000														226			19		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9069588	9069588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9069588C>T	uc001mhi.2	-	14	1772	c.1697G>A	c.(1696-1698)gGc>gAc	p.G566D	SCUBE2_uc021qdk.1_5'UTR|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	537						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACTTGCTTGCCAGAGCTGCA	0.468000														253			17		0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26431630	26431630	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:26431630T>C	uc003grx.2	+	9	1274	c.1038T>C	c.(1036-1038)ccT>ccC	p.P346P	RBPJ_uc003gry.2_Silent_p.P331P|RBPJ_uc003grz.2_Silent_p.P346P|RBPJ_uc011bxt.2_Silent_p.P346P|RBPJ_uc003gsa.2_Silent_p.P332P|RBPJ_uc003gsb.2_Silent_p.P333P	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	346					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GAATGGGCCCTGTCCTTGCCC	0.483000														19			3		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586244	54586244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:54586244G>A	uc021smr.1	+	8	3964	c.3964G>A	c.(3964-3966)Gat>Aat	p.D1322N	UNC13C_uc021sms.1_Missense_Mutation_p.D1324N|UNC13C_uc002acl.3_Missense_Mutation_p.D154N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1324					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G1321*(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAGAAATGGATGTCTGGTA	0.348000														73			22		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725315	31725315	+	Missense_Mutation	SNP	C	T	T	rs140782910		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:31725315C>T	uc021wuu.1	-	7	2208	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	OSBPL10_uc003ceu.1_Missense_Mutation_p.E270K|OSBPL10_uc011axf.2_Missense_Mutation_p.E449K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	513					lipid transport		lipid binding	p.E513K(3)|p.E513*(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ATTGGGTGTTCGTGACAGCTG	0.542000														74			10		0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153657475	153657475	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153657475C>T	uc004flf.1	+	1	304	c.243C>T	c.(241-243)gcC>gcT	p.A81A	BC009467_uc004fld.4_5'Flank|ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Silent_p.A41A	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	81					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					TAGATCCCGCCCTGGAGCTGG	0.652000														62			11		0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210883	134210883	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:134210883C>T	uc003qei.4	+	0	625	c.348C>T	c.(346-348)tcC>tcT	p.S116S	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.S116S	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	116	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCAAGCTCTCCAAGCTGGACA	0.632000														94			11		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553626	39553626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39553626C>T	uc002hwn.3	-	0	219	c.166G>A	c.(166-168)Gag>Aag	p.E56K	KRT31_uc010cxn.3_Missense_Mutation_p.E56K	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	56	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GTCTCCTTCTCGCTACCATTG	0.627000														96			20		0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74760214	74760214	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74760214G>A	uc002fde.2	-	3	598	c.522C>T	c.(520-522)atC>atT	p.I174I	FA2H_uc010vmy.2_Intron	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	174					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GCACCCAGATGATGGGGACAC	0.507000														49			8		0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619841	57619841	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:57619841T>A	uc004dvd.3	+	0	1573	c.1360T>A	c.(1360-1362)Ttc>Atc	p.F454I		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	454	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGAGAGACCTTTCCTTTGTGA	0.493000														60			8		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22291893	22291893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:22291893G>A	uc001mqi.2	+	17	2251	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	ANO5_uc001mqj.2_Missense_Mutation_p.R644Q	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	645						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGAAAAGCTCGGACAAACTCT	0.413000														27			7		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822103	56822104	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56822103_56822104GG>AA	uc001slf.2	-	12	1662_1663	c.1494_1495CC>TT	c.(1492-1497)ttcctt>ttTTtt	p.L499F	TIMELESS_uc001slg.2_Missense_Mutation_p.L498F	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	499					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGGTCACGAAGGAAAGAGCGGG	0.525000														42			9		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255442	52255442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52255442C>T	uc003ddb.3	-	4	3391	c.3181G>A	c.(3181-3183)Gac>Aac	p.D1061N	TLR9_uc003dda.2_Missense_Mutation_p.D964N	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	964					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACCACGACGTCCTTGCGGTCC	0.701000														49			6		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47690209	47690209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47690209C>T	uc002rvy.1	+	8	1494	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S	MSH2_uc010yoh.1_Missense_Mutation_p.P410S|MSH2_uc002rvz.3_Missense_Mutation_p.P476S|MSH2_uc010fbg.2_Missense_Mutation_p.P286S|MSH2_uc010fbh.1_Non-coding_Transcript|MSH2_uc010fbi.1_Non-coding_Transcript	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	476					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCATTTGATCCTAATCTCAG	0.333000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					52			5		0	0	1	0	0
TMEM159	57146	broad.mit.edu	37	16	21181905	21181905	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21181905C>T	uc010vbf.2	+	3	570	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	TMEM159_uc002dih.4_Silent_p.L82L|TMEM159_uc002dif.4_Silent_p.L82L|TMEM159_uc002dig.4_Non-coding_Transcript	NM_020422	NP_065155	Q96B96	TM159_HUMAN	Homo sapiens transmembrane protein 159 (TMEM159), mRNA.	82						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458000														80			6		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42002918	42002918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42002918C>T	uc010ucy.2	+	7	2636	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	MGA_uc001zog.1_Missense_Mutation_p.R819C|MGA_uc010ucz.2_Missense_Mutation_p.R819C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	819						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)		ACTGAAAAATCGTTCTGCTTT	0.343000														20			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9005594	9005594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9005594G>A	uc002mkp.3	-	45	40016	c.39812C>T	c.(39811-39813)cCc>cTc	p.P13271L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P88L|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13273	SEA 8.				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						CAGGGTGTAGGGTCCCAGCTC	0.547000														64			9		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288065	202288065	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202288065C>T	uc001gxu.3	+	17	2634	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	LGR6_uc001gxv.3_Silent_p.L826L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.L739L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	878						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATGTGGATCTCATTCTGGAAG	0.637000														103			6		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997066	28997066	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28997066G>A	uc003szt.3	-	2	961	c.594C>T	c.(592-594)ttC>ttT	p.F198F	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	199					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CTAGCTGGGCGAAGGCGTTCT	0.662000														91			8		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44073309	44073309	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44073309C>T	uc002rtq.3	+	2	271	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ABCG8_uc010yoa.2_Nonsense_Mutation_p.Q61*	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	61	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTGGCCTCTCAGGTCCCTTG	0.527000														136			77		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183807	197183807	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197183807G>A	uc002utm.1	-	8	1990	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	HECW2_uc002utl.1_Nonsense_Mutation_p.Q247*	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	603					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						TCAGAGCCCTGATCGAGAGAC	0.587000														31			4		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50537852	50537852	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50537852C>T	uc003tpg.4	-	11	1260	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	DDC_uc022ade.1_Silent_p.L275L|DDC_uc003tpf.4_Silent_p.L353L|DDC_uc022adb.1_Silent_p.L315L|DDC_uc022adc.1_Silent_p.L305L|DDC_uc022add.1_Silent_p.L260L	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	353					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCTTCTGCCCAGTGGTATCT	0.418000														43			14		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365616	46365616	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:46365616G>A	uc002xto.3	-	2	576	c.246C>T	c.(244-246)ttC>ttT	p.F82F	SULF2_uc002xtr.3_Silent_p.F82F|SULF2_uc002xtq.3_Silent_p.F82F|SULF2_uc010ghv.1_Silent_p.F82F	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	82					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGTGGTCACGAAGGCGTTGA	0.582000														44			10		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465046	10465046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10465046C>T	uc003wtc.3	-	3	6791	c.6562G>A	c.(6562-6564)Gag>Aag	p.E2188K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2188					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)		GGCTGGGCCTCCCCTTCTGCC	0.617000														239			18		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948701	83948701	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83948701C>T	uc002fgz.3	+	4	1109	c.1089C>T	c.(1087-1089)atC>atT	p.I363I		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	363					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTAAGGAAATCTCGGAGATCA	0.542000														163			19		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552500	95552500	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:95552500G>A	uc001kjc.4	+	6	840	c.504_splice	c.e6-1	p.V168_splice	LGI1_uc021pwk.1_Splice_Site_p.V168_splice|LGI1_uc010qnv.2_Splice_Site_p.V120_splice|LGI1_uc009xui.3_Splice_Site	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	168					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGTCTTTCAGGGACCTGAGGG	0.453000														22			5		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525572	76525572	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76525572C>T	uc010dhp.2	-	21	3614	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAAGTGGATCTCCTCTGGCA	0.597000														92			15		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48738468	48738468	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48738468C>G	uc002isl.3	+	7	1071	c.991C>G	c.(991-993)Ctg>Gtg	p.L331V	ABCC3_uc002isk.4_Missense_Mutation_p.L331V|ABCC3_uc002ism.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	331	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CAATCCACAGCTGCTCAGGTC	0.582000														23			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075298	9075298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9075298C>T	uc002mkp.3	-	2	12352	c.12148G>A	c.(12148-12150)Gaa>Aaa	p.E4050K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4052	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E4050D(1)		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						GAGGTAATTTCTGTTCTAGGC	0.507000														46			9		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546041	138546041	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138546041G>A	uc011kql.2	-	15	5140	c.5091C>T	c.(5089-5091)ctC>ctT	p.L1697L	KIAA1549_uc011kqi.2_Silent_p.L481L|KIAA1549_uc011kqk.2_Silent_p.L481L|KIAA1549_uc011kqj.2_Silent_p.L1697L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1697						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGGGGCCACGAGGGCAAAGG	0.697000			O	BRAF	pilocytic astrocytoma									100			8		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53013914	53013914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53013914G>A	uc002pzp.4	+	5	524	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCAAAGACATGAAAGTTATCA	0.383000														86			9		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33834663	33834663	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33834663C>T	uc002xbu.2	+	1	270	c.267C>T	c.(265-267)ggC>ggT	p.G89G	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	89					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGTCCTATGGCTATCTGCTTC	0.522000														98			12		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52511653	52511653	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52511653C>T	uc003ded.4	+	8	1116	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	NISCH_uc003dec.1_Silent_p.L328L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	328	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGTGGACAATCTGCAGGTAGT	0.532000														88			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676679	100676679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100676679C>T	uc003uxp.1	+	2	2035	c.1982C>T	c.(1981-1983)aCc>aTc	p.T661I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	661	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTGTGACCACTTCAACT	0.478000														221			22		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420748	55420748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55420748G>A	uc002qib.2	+	3	538	c.500G>A	c.(499-501)gGa>gAa	p.G167E	NCR1_uc002qic.2_Missense_Mutation_p.G167E|NCR1_uc002qie.2_Missense_Mutation_p.G167E|NCR1_uc002qid.2_Missense_Mutation_p.G72E|NCR1_uc002qif.2_Missense_Mutation_p.G72E|NCR1_uc010esj.2_Missense_Mutation_p.G60E	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	167	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity	p.G167R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GTACAGCGCGGATACGGGAAG	0.567000														79			7		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616487	22616487	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22616487G>A	uc010ajk.2	+	1	314	c.228G>A	c.(226-228)ctG>ctA	p.L76L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		TGAAGAAGCTGAAGAGACTAA	0.512000														15			5		0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25611115	25611115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25611115C>T	uc009vro.3	+	1	258	c.200C>T	c.(199-201)tCg>tTg	p.S67L	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Missense_Mutation_p.S67L|RHD_uc001bjz.3_Missense_Mutation_p.S67L|RHD_uc001bkc.3_Missense_Mutation_p.S67L|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Missense_Mutation_p.S67L|RHD_uc001bkb.3_Missense_Mutation_p.S67L|RHD_uc009vrn.3_Missense_Mutation_p.S67L|RHD_uc009vrp.3_Missense_Mutation_p.S67L			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	67						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCTCACCTCGAGTTTCCGG	0.607000														85			9		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65095117	65095118	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:65095117_65095118CC>TT	uc001dbo.1	+	4	549_550	c.444_445CC>TT	c.(442-447)ttccca>ttTTca	p.P149S	CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	200					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCACTGTTTTCCCAGCACACAA	0.401000														20			4		0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90937078	90937078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:90937078C>T	uc003yeh.3	+	5	1228	c.968C>T	c.(967-969)cCt>cTt	p.P323L	OSGIN2_uc003yeg.3_Missense_Mutation_p.P279L	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	279					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GAAGATTTTCCTTTTGTGTTT	0.453000														18			3		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35441193	35441193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35441193G>A	uc021wcx.1	-	5	2711	c.2371C>T	c.(2371-2373)Cgc>Tgc	p.R791C	SOGA1_uc002xgd.1_Missense_Mutation_p.R553C	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	553										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCACCAGTGCGGAAAGCCTCT	0.592000														23			4		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45938082	45938082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45938082C>T	uc010gzz.3	+	10	1375	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	FBLN1_uc003bgg.1_Missense_Mutation_p.R372C|FBLN1_uc003bgh.3_Missense_Mutation_p.R372C|FBLN1_uc003bgi.1_Missense_Mutation_p.R372C|FBLN1_uc003bgj.1_Missense_Mutation_p.R372C	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	372	EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAAGGGACATCGCTGCGTGAA	0.557000														162			37		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54394986	54394986	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54394986G>A	uc002qcq.1	+	5	870	c.588G>A	c.(586-588)gtG>gtA	p.V196V	PRKCG_uc010eqz.1_Silent_p.V196V|PRKCG_uc010yef.1_Silent_p.V196V|PRKCG_uc010yeg.1_Silent_p.V196V|PRKCG_uc010yeh.1_Silent_p.V83V|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	196	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATCCCTATGTGAAACTGAAGC	0.517000														145			12		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76566926	76566926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76566926G>A	uc003pih.1	+	12	1615	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	MYO6_uc003pig.1_Missense_Mutation_p.E446K|MYO6_uc003pii.1_Missense_Mutation_p.E446K	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	446	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTCCTTTTGAAACATCATC	0.348000														43			9		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17420061	17420061	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17420061C>T	uc001baf.3	-	5	611	c.529_splice	c.e5+1	p.D177_splice	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Splice_Site_p.D177_splice	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	177					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCTGCTGGCACCTTCCTTGCT	0.627000														123			19		0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50502123	50502123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:50502123G>A	uc001vdl.2	-	2	576	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	SPRYD7_uc001vdm.2_Missense_Mutation_p.L69F|SPRYD7_uc010tgm.1_Intron|SPRYD7_uc010adj.3_Missense_Mutation_p.L108F	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA.	108	B30.2/SPRY.							p.L108P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTGTGGTAAAGGGCTCCATCA	0.468000														44			5		0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507328	1507329	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1507328_1507329GG>AA	uc010xgq.1	-	9	1113_1114	c.794_795CC>TT	c.(793-795)gcc>gTT	p.A265V	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.A24V|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.A255V	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	255						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CATGCGTGCCGGCCGCCTCGTA	0.658000														114			15		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2033496	2033496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2033496G>A	uc003wpx.4	+	13	1756	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	540	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCGTGGCAAGGACCCGCTCAT	0.597000														23			4		0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18557151	18557152	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18557151_18557152GG>AT	uc002njh.3	-	9	1743_1744	c.1671_1672CC>AT	c.(1669-1674)ctccgg>ctATgg	p.R558W	ELL_uc010ebq.3_Missense_Mutation_p.R501W|ELL_uc002njg.3_Missense_Mutation_p.R425W	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	558					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	p.R558W(2)		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)		GAGAGCTGCCGGAGCTGGGCGT	0.678000			T	MLL	AL									12			8		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220167333	220167333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220167333C>T	uc002vkz.3	-	4	845	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	PTPRN_uc010zlc.2_Missense_Mutation_p.E112K|PTPRN_uc002vla.3_Missense_Mutation_p.E202K	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	202					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E202K(2)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AAGGCAGGTTCGTAACTCAGT	0.632000														100			7		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819908	98819908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:98819908C>T	uc001kmw.2	-	9	1201	c.949G>A	c.(949-951)Gag>Aag	p.E317K	SLIT1_uc009xvh.1_Missense_Mutation_p.E317K	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	317					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGTTCAGCTCCAGGCGTCTG	0.597000														57			7		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419371	123419371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123419371G>A	uc003ego.3	-	17	3226	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	MYLK_uc011bjw.2_Missense_Mutation_p.R982C|MYLK_uc003egp.3_Missense_Mutation_p.R913C|MYLK_uc003egq.3_Missense_Mutation_p.R982C|MYLK_uc003egr.3_Missense_Mutation_p.R913C|MYLK_uc003egs.3_Missense_Mutation_p.R806C|MYLK_uc003egt.3_Missense_Mutation_p.R173C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	982	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCACTGAGCGAAAATCCGGG	0.587000														50			6		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987516	22987516	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22987516C>T	uc001bgd.3	+	2	531	c.399C>T	c.(397-399)ccC>ccT	p.P133P		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	133	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAACGTCCCCCTGCGCCGGG	0.607000														84			19		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214638071	214638071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:214638071G>A	uc001hkk.2	-	1	729	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	PTPN14_uc021piy.1_5'UTR|PTPN14_uc010pty.2_Intron	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	26	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCCAGCAGGCGAATCCGTGTG	0.602000														78			9		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285572	238285572	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238285572G>A	uc002vwl.2	-	6	3198	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	COL6A3_uc002vwo.2_Silent_p.F765F|COL6A3_uc010znj.1_Silent_p.F364F|COL6A3_uc002vwq.3_Silent_p.F765F|COL6A3_uc002vwr.3_Silent_p.F564F|COL6A3_uc010znk.1_Silent_p.F771F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	971	Nonhelical region.|VWFA 5.				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)		CTTGGAAGATGAAAGGCACAA	0.547000														101			18		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30736210	30736210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30736210C>T	uc002dze.1	+	24	5850	c.5465C>T	c.(5464-5466)tCc>tTc	p.S1822F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S1617F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1822	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGCATCTTCCCTTGTGGTT	0.632000														53			9		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150613	247150613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247150613G>A	uc009xgu.3	-	3	1389	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	402					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCCAGTATGAATTCTCTTA	0.388000														27			5		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349105	150349105	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150349105C>T	uc010ntg.2	+	1	1188	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	GPR50_uc011myc.2_3'UTR	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	350	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAACAAGACCGTGCCCATG	0.602000														57			14		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16250070	16250070	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:16250070C>T	uc003car.4	+	3	1447	c.972C>T	c.(970-972)ccC>ccT	p.P324P	GALNTL2_uc003caq.4_Silent_p.P57P	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	324			P -> A (in dbSNP:rs12634179).			Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						AGTATTACCCCTCAAAGGACC	0.512000														107			10		0	0	1	0	0
TEX261	113419	broad.mit.edu	37	2	71215823	71215823	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71215823G>A	uc002shn.3	-	5	612	c.498C>T	c.(496-498)ttC>ttT	p.F166F	TEX261_uc010fdy.3_Silent_p.F119F	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	Homo sapiens testis expressed 261 (TEX261), mRNA.	166						integral to membrane				NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TGCCTTTGGTGAAATAATTGG	0.493000														77			4		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50788176	50788176	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:50788176C>T	uc001zym.4	+	17	3290	c.2790C>T	c.(2788-2790)ttC>ttT	p.F930F	USP8_uc001zyl.4_Silent_p.F930F|USP8_uc001zyn.4_Silent_p.F930F|USP8_uc010ufh.2_Silent_p.F824F|AX746640_uc001zyo.1_5'Flank|USP8_uc001zyp.4_Silent_p.F97F	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	930					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGGGTCAATTCAAATCTACAG	0.393000														10			4		0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162724981	162724981	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:162724981C>T	uc001gcf.3	+	6	918	c.453C>T	c.(451-453)ttC>ttT	p.F151F	DDR2_uc001gcg.3_Silent_p.F151F	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	151	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATGACATTTTCCTAAAGGACT	0.468000														28			6		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50497865	50497865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50497865C>T	uc001rvz.3	+	0	65	c.32C>T	c.(31-33)tCc>tTc	p.S11F	GPD1_uc010smp.1_Missense_Mutation_p.S11F|GPD1_uc001rwa.3_Missense_Mutation_p.S11F	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	11					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	ATTGTAGGCTCCGGGAACTGG	0.597000														99			7		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080094	23080094	+	Missense_Mutation	SNP	G	A	A	rs143964057	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:23080094G>A	uc002dll.3	-	15	3332	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	USP31_uc002dlk.3_Missense_Mutation_p.S383L|USP31_uc010vca.2_Missense_Mutation_p.S414L|USP31_uc010bxm.3_Missense_Mutation_p.S399L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1111	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTTCTGTGGCGAAGGAGATGA	0.587000														148			8		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519807	23519807	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23519807G>A	uc001bgn.3	-	0	1416	c.906C>T	c.(904-906)atC>atT	p.I302I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	302					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATGCCCAGGATTTTAGTGG	0.552000														88			29		0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106924055	106924055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:106924055G>A	uc003vec.2	-	12	2054	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	COG5_uc003ved.2_Missense_Mutation_p.S510F|COG5_uc003vee.2_Missense_Mutation_p.S510F	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	510					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTCATCAGAGGAAGGAGGATT	0.378000														41			6		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532927	113532927	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113532927C>T	uc001tuk.1	+	6	1803	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	489					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.E488*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGATGGAGTTCCACCTCATCC	0.652000														58			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152537302	152537302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152537302G>A	uc021vrb.1	-	27	3013	c.2984C>T	c.(2983-2985)tCg>tTg	p.S995L	NEB_uc002txu.3_Missense_Mutation_p.S995L|NEB_uc021vrc.1_Missense_Mutation_p.S995L|NEB_uc010fnx.3_Missense_Mutation_p.S995L|NEB_uc021vrd.1_Missense_Mutation_p.S995L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	995					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTCAATCGAGGTAAACTT	0.348000														75			5		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507461	17507461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:17507461G>A	uc003ncb.3	+	4	605	c.362G>A	c.(361-363)aGa>aAa	p.R121K	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.R95K|CAP2_uc011djb.2_Missense_Mutation_p.R121K|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	121					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)			CAAACTTTCAGAGAGAGAAAC	0.483000														38			4		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840332	27840332	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:27840332C>T	uc022bud.1	+	0	909	c.909C>T	c.(907-909)ttC>ttT	p.F303F	MAGEB10_uc004dbw.3_Silent_p.F303F	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	303	MAGE.							p.F303L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CCAGTGAATTCTCAAACTGGT	0.498000														10			3		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288234	132288234	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132288234G>A	uc002tta.3	+	2	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E	CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Silent_p.E126E|CCDC74A_uc021vpr.1_Silent_p.E168E	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	126										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGTGGGTAGAGCCGGGAGGAC	0.667000														48			9		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121465519	121465519	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:121465519A>T	uc001tzj.1	-	3	765	c.759T>A	c.(757-759)aaT>aaA	p.N253K	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	253					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAACATGAAATTCTCGTCTT	0.483000														493			34		0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209878	53209878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53209878G>A	uc002pzz.3	-	6	747	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	ZNF611_uc010eqc.3_Missense_Mutation_p.H74Y|ZNF611_uc010ydo.2_Missense_Mutation_p.H74Y|ZNF611_uc010ydp.2_Missense_Mutation_p.H144Y|ZNF611_uc010ydq.2_Missense_Mutation_p.H144Y|ZNF611_uc010ydr.2_Missense_Mutation_p.H75Y|ZNF611_uc002qaa.4_Missense_Mutation_p.H74Y|ZNF611_uc021uyy.1_Missense_Mutation_p.H75Y	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GCATGCCTGTGATCATGTTGG	0.393000														85			10		0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34625778	34625778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:34625778C>T	uc011lon.2	-	1	352	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	118	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCCAGAAATTCCTTCCTCTTG	0.542000														71			5		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884741	160884741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160884741G>A	uc002ube.2	-	5	1299	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	PLA2R1_uc010zcp.2_Missense_Mutation_p.H363Y|PLA2R1_uc002ubf.3_Missense_Mutation_p.H363Y	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	363					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						ACTATTTCATGATCAATGTGG	0.333000														44			5		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6318824	6318824	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:6318824T>G	uc003mwv.3	-	1	197	c.74A>C	c.(73-75)gAt>gCt	p.D25A	F13A1_uc011dib.2_Missense_Mutation_p.D25A	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	25					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCAGGTCATCTTCCGCTGC	0.552000														116			6		0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262626	144262626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:144262626G>A	uc003qjv.3	-	2	2593	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	PLAGL1_uc003qjx.3_Missense_Mutation_p.P443S|PLAGL1_uc003qjy.3_Missense_Mutation_p.P443S|PLAGL1_uc010khl.3_Missense_Mutation_p.P443S|PLAGL1_uc010khm.3_Missense_Mutation_p.P443S|PLAGL1_uc003qjz.3_Missense_Mutation_p.P443S|PLAGL1_uc003qka.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkb.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkc.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkd.3_Missense_Mutation_p.P391S|PLAGL1_uc003qke.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkf.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkg.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkh.3_Missense_Mutation_p.P443S|PLAGL1_uc003qki.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkj.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkk.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkl.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkm.3_Missense_Mutation_p.P443S|PLAGL1_uc010khn.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkn.3_Missense_Mutation_p.P391S|PLAGL1_uc003qko.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkp.3_Missense_Mutation_p.P391S|PLAGL1_uc003qjw.3_Missense_Mutation_p.P391S|PLAGL1_uc021zgj.1_Missense_Mutation_p.P391S	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	443					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		AACACATGAGGGATGGGGGGC	0.527000														394			34		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160156126	160156126	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160156126C>T	uc001fve.4	+	20	3509	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.I513I|ATP1A4_uc001fvh.3_Silent_p.I146I	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	1010				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E1009K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGATGAAATCAGAAAACTCC	0.562000														220			28		0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15808769	15808769	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15808769G>A	uc001awl.3	+	3	262	c.237G>A	c.(235-237)ggG>ggA	p.G79G		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	79	Peptidase S1.		G -> R (in dbSNP:rs3820071).		proteolysis	extracellular region	serine-type endopeptidase activity	p.G79V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GCTCCTCCGGGATCTACCGCG	0.567000														67			5		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470193	92470193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92470193G>A	uc001xzy.3	-	10	4501	c.4127C>T	c.(4126-4128)tCg>tTg	p.S1376L	TRIP11_uc010auf.2_Missense_Mutation_p.S1112L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1376					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GGCAGCAATCGAATCAGACAA	0.378000			T	PDGFRB	AML									50			6		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774692	121774692	+	Missense_Mutation	SNP	G	A	A	rs142855444		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:121774692G>A	uc003idn.3	-	2	431	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	PRDM5_uc003ido.3_Missense_Mutation_p.R61C|PRDM5_uc010ine.3_Missense_Mutation_p.R61C|PRDM5_uc010inf.3_Missense_Mutation_p.R61C|PRDM5_uc003idp.1_Missense_Mutation_p.R61C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	61	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACTCCCACGAACCTGAAAC	0.423000														59			4		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033115	20033116	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:20033115_20033116GG>AA	uc002wrs.3	-	1	386_387	c.354_355CC>TT	c.(352-357)gtcctg>gtTTtg	p.118_119VL>VL	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.106_107VL>VL	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	118					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GGAACTTGCAGGACTGACCTTT	0.609000														62			12		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618521	77618521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77618521G>A	uc003yau.2	+	1	2585	c.2198G>A	c.(2197-2199)gGc>gAc	p.G733D	ZFHX4_uc003yat.1_Missense_Mutation_p.G733D|ZFHX4_uc003yaw.1_Missense_Mutation_p.G733D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	733						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCCAAAATGGCAATGGTGAG	0.522000										HNSCC(33;0.089)				17			4		0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333180	33333180	+	Missense_Mutation	SNP	G	A	A	rs143618205		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33333180G>A	uc002ntv.4	-	10	1235	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.S373L|SLC7A9_uc021usa.1_Missense_Mutation_p.S373L|SLC7A9_uc002ntw.4_Missense_Mutation_p.S164L	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	373					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.S373L(4)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATTGACTAACGAGTTTATGTC	0.398000														62			5		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795453	109795453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109795453C>T	uc001dxa.4	+	0	2813	c.2752C>T	c.(2752-2754)Ccc>Tcc	p.P918S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	918	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAATGACAATCCCCCTGTCTT	0.567000														781			46		0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47673089	47673089	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47673089C>T	uc002pgc.3	+	5	750	c.642C>T	c.(640-642)tgC>tgT	p.C214C	SAE1_uc002pgd.3_Silent_p.C214C|SAE1_uc010ekx.3_Silent_p.C214C|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Silent_p.C40C|SAE1_uc002pge.3_Silent_p.C150C	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	214					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGGTCTTCTGCCCTGTTAAAG	0.483000														92			10		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247977	5247977	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5247977G>A	uc001mae.1	-	1	195	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	49			L -> P (in Bab-Saadoum; slightly unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		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)	Iron Dextran(DB00893)	GGAGTGGACAGATCCCCAAAG	0.532000									Sickle Cell Trait					40			4		0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14748447	14748447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:14748447C>T	uc010neq.3	+	8	1959	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	GLRA2_uc004cwe.4_Missense_Mutation_p.P400L|GLRA2_uc011mio.2_Missense_Mutation_p.P311L|GLRA2_uc010nep.3_Missense_Mutation_p.P400L|GLRA2_uc011mip.2_Missense_Mutation_p.P378L	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	400					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.P400P(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTCCCACAACCGCCAAAAGAT	0.488000														20			4		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851087	160851087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160851087C>T	uc001fxc.3	-	4	537	c.421G>A	c.(421-423)Gac>Aac	p.D141N		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	141	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCTGGATGTCGTAGTAGCCA	0.592000														74			5		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808425	8808425	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8808425G>A	uc002mkl.2	-	0	748	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	209						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGTAGCCCTGGAAGACGGGCA	0.682000														30			5		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396321	65396321	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65396321C>T	uc001oey.2	+	23	3843	c.3843C>T	c.(3841-3843)ctC>ctT	p.L1281L	PCNXL3_uc001oez.2_Silent_p.L168L	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1281						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGGCCCTGCTCTCGGGGCTCT	0.652000														35			4		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754563	141754563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141754563C>T	uc003vwy.3	+	26	3223	c.3169C>T	c.(3169-3171)Ccc>Tcc	p.P1057S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1057					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)	GATTTATGATCCCAACAAGAA	0.418000														45			4		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939144	2939144	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2939144G>A	uc001ajz.3	+	0	1099	c.894G>A	c.(892-894)gaG>gaA	p.E298E		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	298						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCTTTGGGGAGATTGTGCTGT	0.602000														109			18		0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1551761	1551762	+	Missense_Mutation	DNP	GG	AC	AC	rs145398789	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1551761_1551762GG>AC	uc002ftd.3	-	4	997_998	c.703_704CC>GT	c.(703-705)ccc>GTc	p.P235V	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	235					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCTCCGAGGGGCGCCCGAGC	0.639000														48			4		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953567	43953567	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:43953567C>T	uc010yny.2	+	16	2781	c.2698C>T	c.(2698-2700)Cta>Tta	p.L900L	PLEKHH2_uc002rtf.3_Silent_p.L899L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	900	PH 2.					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)				AACTTACCTCCTAATTGGATC	0.338000														148			69		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2333321	2333322	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2333321_2333322GG>AA	uc002cpy.1	-	25	4612_4613	c.3900_3901CC>TT	c.(3898-3903)gccccg>gcTTcg	p.P1301S	ABCA3_uc010bsk.1_Missense_Mutation_p.P1243S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1301					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGACCCCCGGGGCGCTCCAGG	0.653000														52			11		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42750540	42750540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42750540C>T	uc003cly.4	-	15	2164	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	694								p.E694K(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCCAGGATCTCATGGTACATC	0.612000														54			5		0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936589	4936589	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4936589G>A	uc002gap.4	-	3	1814	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	SLC52A1_uc002gao.4_Silent_p.P367P|SLC52A1_uc010ckw.3_Silent_p.P245P|SLC52A1_uc010ckx.3_Intron	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	367						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGCCCACCAGGGGTGGGCAGG	0.622000														82			9		0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595100	1595100	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1595100G>A	uc003skv.4	-	1	338	c.21C>T	c.(19-21)atC>atT	p.I7I	TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	7						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTGTCTCCAGGATCCCTGAGA	0.667000														79			5		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32598135	32598135	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:32598135C>T	uc002yow.1	-	7	2188	c.1716G>A	c.(1714-1716)caG>caA	p.Q572Q	TIAM1_uc011adk.1_Silent_p.Q572Q|TIAM1_uc011adl.1_Silent_p.Q572Q|TIAM1_uc002yox.1_Silent_p.Q180Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	572					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGTCAATCTTCTGTTCCAGTT	0.463000														98			5		0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3405943	3405943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3405943G>A	uc002cuw.1	+	0	55	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AACCAGTGATGGACGGGGTGA	0.458000														57			6		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11097823	11097823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11097823G>A	uc001aru.3	-	6	967	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	312	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TTGCACAGGTGAAACGTGGCC	0.502000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			14		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77516015	77516015	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:77516015C>T	uc001dhi.3	+	3	919	c.744C>T	c.(742-744)atC>atT	p.I248I	ST6GALNAC5_uc010ori.2_3'UTR|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	248					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GTGACAGGATCAATGTTTATG	0.428000														97			6		0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45148715	45148715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45148715G>A	uc011kcd.2	-	1	204	c.155C>T	c.(154-156)tCc>tTc	p.S52F	TBRG4_uc003tmu.3_5'Flank|TBRG4_uc003tmv.3_Missense_Mutation_p.S41F|TBRG4_uc003tmw.3_Missense_Mutation_p.S41F|TBRG4_uc003tmx.3_Missense_Mutation_p.S41F	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	41					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGTGGCTGAGGAAGTCAGAGT	0.587000														91			30		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317450	154317450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154317450C>T	uc001fex.3	+	21	2389	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	783					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCCAGGCCCACGCACTGGA	0.582000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			11		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969283	118969283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118969283C>T	uc010qsr.2	+	2	628	c.628C>T	c.(628-630)Cca>Tca	p.P210S		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	210						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TGAAGAGCTTCCAGGCCCCAA	0.532000														59			4		0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56977170	56977170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56977170C>T	uc002eke.1	+	7	1553	c.1144C>T	c.(1144-1146)Ctt>Ttt	p.L382F	HERPUD1_uc002ekf.1_Missense_Mutation_p.L381F|HERPUD1_uc002ekg.1_Missense_Mutation_p.L357F|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.L284F|HERPUD1_uc002ekh.1_Missense_Mutation_p.L200F	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.	382						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGCCTCTCTTCTTCCAGAAGG	0.532000			T	ERG	prostate									174			14		0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62754737	62754737	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62754737G>A	uc010wqc.2	-	6		c.1613C>T								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		TGAGACAAAGGGAGAAAGCTA	0.378000														58			17		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75082833	75082833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75082833G>A	uc009xrc.3	-	9	1131	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	TTC18_uc001jty.3_Missense_Mutation_p.S337L|TTC18_uc009xrd.1_Missense_Mutation_p.S145L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	337							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCATGAAACGAAAGCTGAGC	0.403000														52			5		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29648366	29648366	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:29648366C>T	uc001rix.1	-	3	306	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	102	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.T101I(1)|p.V102A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCCCAGAAGTCACAGTTATAT	0.363000														38			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642625	179642625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179642625G>A	uc021vsy.1	-	24	4511	c.4286C>T	c.(4285-4287)cCt>cTt	p.P1429L	TTN_uc021vsz.1_Missense_Mutation_p.P1383L|TTN_uc021vta.1_Missense_Mutation_p.P1383L|TTN_uc021vtb.1_Missense_Mutation_p.P1383L|TTN_uc002unb.2_Missense_Mutation_p.P1429L|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1429	ZIS5.						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)			CATCCGTGCAGGAGACATCCT	0.483000														12			3		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122664262	122664262	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:122664262C>T	uc021pzt.1	+	24	3378	c.3132C>T	c.(3130-3132)ggC>ggT	p.G1044G	WDR11_uc010qte.2_Silent_p.G646G|WDR11_uc001lfd.1_Silent_p.G562G|AX747838_uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1044						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCTCGTCAGGCCCCTCTCAGA	0.443000														53			5		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702167	60702167	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60702167C>T	uc001nqi.3	+	8	1963	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	TMEM132A_uc001nqj.3_Silent_p.D589D	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	589						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGCTGGACTCGCGTGTAG	0.706000														33			4		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56047350	56047350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:56047350C>T	uc003pcs.3	-	1	299	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E23K|COL21A1_uc003pcu.1_Missense_Mutation_p.E23K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	23					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCCATCTTCAGCTAACACA	0.348000														12			3		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96798394	96798394	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96798394C>T	uc010yui.2	-	5	522	c.522G>A	c.(520-522)caG>caA	p.Q174Q		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	174					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCGGCCCTTCTGGAGACACG	0.632000														97			16		0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533272	94533272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:94533272C>T	uc001pfb.3	+	2	1086	c.916C>T	c.(916-918)Cct>Tct	p.P306S	AMOTL1_uc001pfc.3_Missense_Mutation_p.P256S	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	306						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGTGCTGGACCCTCGGGGTCC	0.597000														93			7		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024113	76024113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76024113C>T	uc010kbe.3	-	5	1974	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	FILIP1_uc003phy.1_Missense_Mutation_p.E479K|FILIP1_uc003phz.3_Missense_Mutation_p.E380K|FILIP1_uc003pia.3_Missense_Mutation_p.E479K|FILIP1_uc003pib.1_Missense_Mutation_p.E231K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	479								p.E481Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CATTCCAATTCTTTAACTCGA	0.373000														38			4		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109347931	109347931	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:109347931G>A	uc002tem.4	+	4	531	c.405_splice	c.e4+1	p.K135_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	135					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAAACTAAAGGTAAACAAACA	0.323000														116			16		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563973	8563973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8563973G>A	uc002mkd.3	-	1	782	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	288	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGCGGCACGGACTTCTTAGG	0.617000														49			8		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464038	50464038	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50464038C>T	uc010ybh.2	-	1	322	c.231G>A	c.(229-231)cgG>cgA	p.R77R	SIGLEC11_uc010ybi.2_Silent_p.R77R	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	77	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TTGGGCTGGTCCGTCCTTTGA	0.602000														39			12		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46474785	46474785	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:46474785G>A	uc002ldg.3	-	1	923	c.636C>T	c.(634-636)tcC>tcT	p.S212S	SMAD7_uc010xde.2_5'UTR|SMAD7_uc021ujr.1_Silent_p.S212S	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	212	Important for interaction with SMURF2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCGGGTATCTGGAGTAAGGAG	0.393000														61			4		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005638	1005638	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:1005638G>A	uc021qss.1	+	23	7408	c.6765G>A	c.(6763-6765)aaG>aaA	p.K2255K	WNK1_uc001qio.4_Silent_p.K1995K|WNK1_uc021qst.1_Silent_p.K2247K|WNK1_uc001qip.4_Silent_p.K1747K|WNK1_uc001qir.4_Silent_p.K1168K	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1995					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGATACCAAAGAAAGAGAAGC	0.468000														62			12		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70476323	70476323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70476323G>A	uc003xyg.2	+	3	674	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	SULF1_uc010lza.1_Missense_Mutation_p.R38Q|SULF1_uc003xyd.2_Missense_Mutation_p.R38Q|SULF1_uc003xye.2_Missense_Mutation_p.R38Q|SULF1_uc003xyf.2_Missense_Mutation_p.R38Q	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	38					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGCAGGAACGAAAAAACATC	0.493000														43			7		0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48547050	48547050	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:48547050G>A	uc004dkm.4	+	10	989	c.932_splice	c.e10-1	p.E311_splice		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	311					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCTCCACAGAGCCACTTCCGC	0.572000			"""Mis, N, F, S"""			lymphoma								23			4		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784098	151784098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:151784098G>A	uc003luv.2	-	0	743	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	193					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GACCCATTGGGGAAGTAGTGG	0.582000														87			11		0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038838	122038838	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:122038838G>A	uc002tmx.3	-	1	165	c.72C>T	c.(70-72)ctC>ctT	p.L24L	TFCP2L1_uc010flr.3_Silent_p.L24L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	24	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGGGCAGAGCGAGCACATCAC	0.637000														97			19		0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075129	226075129	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226075129T>A	uc001hpo.3	-	2	787	c.707A>T	c.(706-708)gAg>gTg	p.E236V	PYCR2_uc010pvj.2_Silent_p.G344G	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	236					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GGTGTGCAGCTCCAGCTGGGG	0.612000														56			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595196	82595196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:82595196G>A	uc003uhx.2	-	3	4197	c.3908C>T	c.(3907-3909)cCt>cTt	p.P1303L	PCLO_uc003uhv.2_Missense_Mutation_p.P1303L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1242					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						TAAACTCTGAGGTGTGCCAGA	0.448000														35			9		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100204051	100204051	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:100204051A>G	uc004axj.3	+	5	974	c.749A>G	c.(748-750)aAt>aGt	p.N250S	TDRD7_uc011lux.2_Missense_Mutation_p.N176S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	250	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAGCATAACAATGGCATTTGG	0.343000														4			4		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000019	14000019	+	Silent	SNP	G	A	A	rs141570550	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14000019G>A	uc002mxl.1	-	5	1709	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	C19orf57_uc002mxk.1_Silent_p.F432F	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	550					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGGGCTTCGAAGTCAGAGG	0.607000														31			7		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233987	61233987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61233987G>A	uc010xeo.2	+	6	1021	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	SERPINB12_uc010xen.2_Missense_Mutation_p.D321N	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	321					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGGCATTACGGATATCTTTGA	0.433000														134			8		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967848	4967848	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4967848G>A	uc010qys.2	-	0	483	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGTGAAAGGGAAGGGAAGAA	0.433000														91			6		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57910339	57910339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57910339G>A	uc002aei.3	+	2	402	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	GCOM1_uc002aej.3_Missense_Mutation_p.G91R|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.G91R|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.G91R	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	91					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGGTGTATGGGTGGTCCAC	0.448000														40			4		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24537878	24537878	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24537878C>T	uc001wlj.2	+	36	3925	c.3768C>T	c.(3766-3768)ttC>ttT	p.F1256F	LRRC16B_uc001wlk.2_Silent_p.F309F|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1256										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGACCCTCTTCCCAGAGAGGA	0.592000														27			5		0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262695	159262695	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:159262695C>T	uc003qrw.3	-	2		c.649G>A								Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA.																		AATCCAGTATCCATTGAGTTC	0.413000														55			4		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581704	140581704	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140581704A>T	uc003liy.3	+	0	2357	c.2357A>T	c.(2356-2358)aAc>aTc	p.N786I		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	786					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGAAGAAAACTCCACCTTT	0.338000														26			7		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755549	91755549	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91755549G>A	uc010aty.3	-	24	4495	c.4341C>T	c.(4339-4341)gcC>gcT	p.A1447A		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1447					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGCTGAGAGGCCGCCGGCG	0.632000														124			10		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606532	31606532	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31606532C>T	uc002wyj.3	+	8	953	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	253						extracellular region	lipid binding										CCGAGGGCTCCATGGCCACCG	0.627000														100			18		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131548	147131548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147131548G>A	uc001epr.2	-	2	906	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	ACP6_uc009wjj.1_Missense_Mutation_p.P105S	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	148					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GAAAGAAAGGGAATGTCTTCC	0.483000														29			4		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128301981	128301981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:128301981G>A	uc003kuy.3	+	1	547	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	SLC27A6_uc003kuz.3_Missense_Mutation_p.G51R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	51					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGAAAAGAGAGGGGAGCTGGT	0.443000														79			7		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919642	45919643	+	Missense_Mutation	DNP	CC	AT	AT	rs145799284	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45919642_45919643CC>AT	uc001nbr.3	+	1	433_434	c.108_109CC>AT	c.(106-111)acccat>acATat	p.H37Y	MAPK8IP1_uc010rgp.1_Missense_Mutation_p.H21Y	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	37					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGGCTCACCCATGACATCAG	0.545000														26			5		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873791	36873791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36873791C>T	uc003cgj.3	-	20	7399	c.7151G>A	c.(7150-7152)aGg>aAg	p.R2384K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2384					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAAAAAGAGCCTCTTGTAGTC	0.463000														95			8		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137733918	137733918	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137733918C>T	uc003lcy.1	+	9	3083	c.2883C>T	c.(2881-2883)ccC>ccT	p.P961P	KDM3B_uc010jew.1_Silent_p.P617P|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	961					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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTTAAGCCCCCAGCAAAGTG	0.478000														90			6		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15300083	15300083	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15300083C>T	uc002nan.3	-	7	1268	c.1192_splice	c.e7+1	p.G398_splice	NOTCH3_uc002nao.1_Splice_Site_p.G398_splice	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	398	EGF-like 10; 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)			GCTCCCCTCACCGATAGAGCA	0.642000														83			11		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101572567	101572568	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:101572567_101572568CT>TC	uc003knm.3	-	12	2456_2457	c.2169_2170AG>GA	c.(2167-2172)gaaggg>gaGAgg	p.G724R		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	724					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.E723Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCATTTCACCCTTCTTTTACTA	0.371000														5			3		0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724158	30724158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:30724158C>T	uc003gsk.1	+	0	2122	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	PCDH7_uc011bxx.2_Missense_Mutation_p.R372W|PCDH7_uc021xnd.1_Missense_Mutation_p.R372W|PCDH7_uc021xnc.1_Missense_Mutation_p.R372W	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	372	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGTCCTGCACCGGATCGACCG	0.677000														33			8		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621638	171621638	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:171621638C>T	uc001ghu.3	-	0	136	c.114G>A	c.(112-114)agG>agA	p.R38R	MYOC_uc010pmk.2_Silent_p.R38R	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	38					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CATTGGCCTTCCTGAGCTGAG	0.607000														29			5		0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52657338	52657338	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:52657338C>T	uc011moa.1	+	4		c.605C>T			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TCCAGAGAATCATCCCGAAGG	0.413000														61			5		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165533028	165533028	+	Silent	SNP	G	A	A	rs148593286	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165533028G>A	uc001gde.2	+	1	965	c.909G>A	c.(907-909)acG>acA	p.T303T	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	303						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAACCCAGACGAGCTCGGTCC	0.567000														88			15		0	0	1	0	0
TM2D3	80213	broad.mit.edu	37	15	102190335	102190335	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:102190335T>C	uc002bxi.3	-	2	229	c.199A>G	c.(199-201)Aag>Gag	p.K67E	TM2D3_uc010usg.1_Missense_Mutation_p.K41E|TM2D3_uc002bxh.3_Missense_Mutation_p.K2E|TM2D3_uc002bxj.3_Missense_Mutation_p.K41E|TM2D3_uc010ush.1_Missense_Mutation_p.K67E	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.	67						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCGGACACTTCATCACATAA	0.423000														45			4		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669314	95669314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95669314G>A	uc001yef.2	-	8	2488	c.2372C>T	c.(2371-2373)cCc>cTc	p.P791L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	791						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCTGGCACTGGGGAGGCTCTC	0.637000														41			6		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40858195	40858195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40858195G>A	uc010wgu.2	-	14	1723	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	EZH1_uc002iaz.3_Missense_Mutation_p.R557C|EZH1_uc002iba.3_Missense_Mutation_p.R548C|EZH1_uc010wgt.2_Missense_Mutation_p.R487C|EZH1_uc010wgv.2_Missense_Mutation_p.R517C|EZH1_uc010wgw.2_Missense_Mutation_p.R418C|EZH1_uc010cyp.2_Missense_Mutation_p.R458C|EZH1_uc010cyq.2_Missense_Mutation_p.R474C|EZH1_uc010cyo.1_Missense_Mutation_p.R220C	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	557	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCAGGGAAACGATTCTGACCT	0.483000														57			9		0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134133142	134133142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:134133142G>A	uc003vrp.1	-	5	730	c.656C>T	c.(655-657)cCc>cTc	p.P219L		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	219					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)	AGCTCACCAGGGCCTGTCAGG	0.522000														85			5		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640130	104640130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:104640130C>T	uc001yos.4	+	9	1955	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	652	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGGGGGTCCCCTGTGTCTG	0.692000														29			4		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131639260	131639260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131639260C>T	uc021qav.1	-	13	1441	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q	EBF3_uc001lki.2_Missense_Mutation_p.R461Q	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	470					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.R461Q(1)|p.R470Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GACGTAGCCTCGCGGGGACAC	0.552000														126			9		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105944858	105944858	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105944858A>T	uc001kxw.3	-	15	2173	c.2057T>A	c.(2056-2058)aTt>aAt	p.I686N	WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Missense_Mutation_p.I687N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	686										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATTGACTGAATCCCATGACC	0.403000														67			10		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296644	9296644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9296644C>T	uc002mkz.1	+	0	375	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	63					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTACTTCTTCCTCTCCAACCT	0.542000														58			15		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4542357	4542357	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4542357C>T	uc002fyh.3	-	2	433	c.408G>A	c.(406-408)agG>agA	p.R136R	ALOX15_uc010vsd.2_Silent_p.R97R|ALOX15_uc010vse.2_Silent_p.R158R	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	136	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GGTACAACTTCCTTCTCTCTT	0.592000														97			10		0	0	1	0	0
PROK2	60675	broad.mit.edu	37	3	71821909	71821909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:71821909G>A	uc003dpa.4	-	3	510	c.356C>T	c.(355-357)tCa>tTa	p.S119L	PROK2_uc003doz.4_Missense_Mutation_p.S98L	NM_001126128	NP_001119600	Q9HC23	PROK2_HUMAN	Homo sapiens prokineticin 2 (PROK2), transcript variant 1, mRNA.	119					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TCGGTTAAATGAAGTCCGTAA	0.413000														46			6		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626190	102626190	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:102626190C>T	uc002tbm.3	+	2	463	c.234C>T	c.(232-234)gtC>gtT	p.V78V	IL1R2_uc002tbn.3_Silent_p.V78V|IL1R2_uc002tbo.1_Silent_p.V78V	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	78	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTAGGACGGTCCCAGGAGAAG	0.597000														200			62		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43437823	43437823	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:43437823A>T	uc002lbm.3	-	41	7537	c.7437T>A	c.(7435-7437)tcT>tcA	p.S2479S	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.S1033S|EPG5_uc002lbn.2_Silent_p.S1354S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2479					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTACCTGTTAGACAAAGGCG	0.493000														46			6		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3002852	3002852	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3002852C>T	uc010zqd.2	+	13	1664	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	PTPRA_uc002whj.3_Silent_p.I438I|PTPRA_uc002whk.3_Silent_p.I429I|PTPRA_uc002whl.3_Silent_p.I429I|PTPRA_uc002whm.3_Silent_p.I205I|PTPRA_uc002whn.3_Silent_p.I429I|PTPRA_uc002who.3_Silent_p.I101I	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	438	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGGGCCATCGTGGTCCACT	0.602000														107			6		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092580	101092580	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101092580C>T	uc011mrk.1	-	14	1326	c.966G>A	c.(964-966)gtG>gtA	p.V322V	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	322	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.N321Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TGAGGGAGTCCACGTTTCGTG	0.542000														41			9		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79948455	79948455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:79948455G>A	uc004edt.3	-	27	3510	c.3247C>T	c.(3247-3249)Cag>Tag	p.Q1083*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.Q912*|BRWD3_uc004edq.3_Nonsense_Mutation_p.Q679*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.Q679*|BRWD3_uc004edr.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004eds.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edo.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edu.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004edv.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edw.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edx.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edy.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edz.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004eea.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.Q679*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1083										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGTAACACTGGAAAGAACTA	0.403000														36			5		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33003895	33003895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:33003895G>A	uc001rlj.4	-	4	1298	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	PKP2_uc001rlk.4_Missense_Mutation_p.R395C|PKP2_uc010skj.2_Missense_Mutation_p.R395C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	395					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGGATGCCACGAAGCTGGTTA	0.408000														58			9		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34072483	34072483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34072483C>T	uc001zhi.3	+	64	9279	c.9209C>T	c.(9208-9210)aCc>aTc	p.T3070I	RYR3_uc010bar.3_Missense_Mutation_p.T3070I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3070					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T3070A(1)		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)		CTGGAGCCCACCCTTAATCGC	0.527000														22			4		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780812	88780812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:88780812C>T	uc001pcq.3	-	0	429	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	GRM5_uc009yvm.3_Missense_Mutation_p.E77K|GRM5_uc009yvn.2_Missense_Mutation_p.E77K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	77					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGATCCTTTCCAGGGTATGC	0.542000														9			3		0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968916	62968916	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62968916G>A	uc002jez.3	-	2		c.506C>T			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		GACTCTAAAGGAACACCTTGT	0.353000														19			3		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36910047	36910047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36910047C>T	uc022abv.1	-	19	2566	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	ELMO1_uc003tfi.2_Missense_Mutation_p.G139E|ELMO1_uc003tfj.2_Missense_Mutation_p.G139E|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.G523E|ELMO1_uc003tfk.2_Missense_Mutation_p.G619E|ELMO1_uc010kxg.2_Missense_Mutation_p.G619E	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	619	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T618T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAGTCCTTTCCCGTCACCAC	0.413000														29			5		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844314	52844314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52844314C>T	uc001sak.3	-	1	679	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	211	Linker 1.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AACAACGGCTCCAGGTTCTGC	0.587000														64			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22758874	22758874	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22758874G>A	uc021wml.1	+	61		c.6664G>A								Parts of antibodies, mostly variable regions.																		GGTACCAGCAGCTCCCAGGAA	0.562000														78			7		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14613944	14613944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:14613944C>T	uc003ssz.3	-	18	1853	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	DGKB_uc011jxt.2_Missense_Mutation_p.E537K|DGKB_uc003sta.3_Missense_Mutation_p.E556K|DGKB_uc011jxu.2_Missense_Mutation_p.E555K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	556	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)	AACATGATTTCTGTGCTGTTT	0.348000														109			12		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5841745	5841745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5841745C>T	uc001qnm.2	-	14	1558	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	501						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGGTTGCTCTCCTTTAGCATT	0.453000														31			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106866677	106866677	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106866677G>A	uc021ser.1	-	432		c.13543C>T								Parts of antibodies, mostly variable regions.																		GCCTCCCCCAGACTCCACCAG	0.562000														48			4		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76330014	76330014	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:76330014C>T	uc010ask.2	+	29	3651	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	TTLL5_uc001xrx.3_Silent_p.L1111L|TTLL5_uc001xrz.3_Silent_p.L686L|TTLL5_uc001xsa.3_Silent_p.L185L	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1111					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)		CTTCAGGAGCCTGCAGACAGG	0.488000														33			8		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149457738	149457738	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149457738G>A	uc003lrl.3	-	3	861	c.666C>T	c.(664-666)atC>atT	p.I222I	CSF1R_uc011dcd.2_Silent_p.I74I|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.I222I|CSF1R_uc011dce.1_Silent_p.I222I|CSF1R_uc011dcf.2_Silent_p.I222I	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	222	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTGAGCACACGATCTGGGCAG	0.582000														61			16		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297436	36297436	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36297436T>C	uc002obx.1	-	7	1143	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	375					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGCTTCACTCCGAAGGCCA	0.627000														97			9		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723974	99723974	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:99723974G>A	uc001yga.3	-	1	528	c.261C>T	c.(259-261)gcC>gcT	p.A87A	BCL11B_uc001ygb.3_Silent_p.A87A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	87						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTCATAGCAGGCACCCAAGC	0.587000			T	TLX3	T-ALL									76			5		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151886	158151886	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158151886C>T	uc001frr.3	+	3	892	c.393C>T	c.(391-393)ttC>ttT	p.F131F	CD1D_uc009wsr.1_Silent_p.F131F|CD1D_uc009wss.3_Silent_p.F131F|CD1D_uc009wst.1_Silent_p.F27F	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	131					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.F131L(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAAATAACTTCTTCCATGTAG	0.498000														185			7		0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722523	53722523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53722523C>T	uc001sct.3	-	1	810	c.703G>A	c.(703-705)Gga>Aga	p.G235R	SP7_uc001scv.3_Missense_Mutation_p.G235R|SP7_uc001scu.3_Missense_Mutation_p.G217R	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCACTATTTCCCACTGCCTTG	0.612000														53			8		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73270725	73270725	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:73270725C>T	uc001jrx.4	+	4	693	c.303C>T	c.(301-303)ttC>ttT	p.F101F	CDH23_uc001jrw.4_Silent_p.F101F|CDH23_uc001jry.3_Silent_p.F101F|CDH23_uc001jrz.3_Silent_p.F101F|CDH23_uc021psl.1_Silent_p.F101F|CDH23_uc001jrv.3_Silent_p.F96F|CDH23_uc009xql.3_Silent_p.F101F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	101	Cadherin 1.				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						AGTCAGAGTTCACCGTGGAGT	0.622000														97			5		0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25335045	25335045	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25335045C>T	uc003grl.4	+	3	606	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ZCCHC4_uc003grm.1_Non-coding_Transcript	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	190							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTCTGCCCTCGGATTCAGAA	0.393000														55			8		0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103434387	103434387	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:103434387C>T	uc004elw.3	+	5	1406	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	FAM199X_uc004elx.3_Silent_p.F139F	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	365								p.F365L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTGGGCTCTTCCTTAACGAAG	0.498000														27			11		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738884	38738884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38738884C>T	uc003ciq.3	-	26	5827	c.5827G>A	c.(5827-5829)Gaa>Aaa	p.E1943K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1943					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTTCATCTTCATTTTGTATT	0.478000														55			5		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67012810	67012810	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67012810C>T	uc001ojw.3	+	13	2578	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Nonsense_Mutation_p.R266*|KDM2A_uc010rpn.2_Nonsense_Mutation_p.R133*|KDM2A_uc001ojz.1_Nonsense_Mutation_p.R30*	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	572					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						AGTGCGATGTCGAAAATGCAA	0.552000														39			11		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211505	59211505	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:59211505G>A	uc001nnx.1	+	0	864	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCCCCATGCTGAACCCTCTCA	0.473000														61			8		0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159420479	159420479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:159420479C>T	uc003qrx.3	-	0	720	c.530G>A	c.(529-531)aGc>aAc	p.S177N	RSPH3_uc010kju.3_Missense_Mutation_p.S177N	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	177										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CTGCGTCAGGCTGTCCCGGTA	0.677000														60			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731807	140731807	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140731807C>T	uc003ljo.2	+	0	1980	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.F660F|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	666	Cadherin 6.				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)			ACCTAATCTTCGCGGATAGCC	0.657000														76			6		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174231977	174231977	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:174231977T>G	uc002uic.1	+	8	1416	c.1285T>G	c.(1285-1287)Tat>Gat	p.Y429D	CDCA7_uc002uid.1_Missense_Mutation_p.Y350D|CDCA7_uc010zej.1_Missense_Mutation_p.Y385D|CDCA7_uc010zek.1_Missense_Mutation_p.Y308D	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	350					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Y429Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTTAGCCAAATATCATGGCTT	0.453000														51			9		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25250979	25250979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25250979G>A	uc003abg.2	+	5	629	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	SGSM1_uc010guu.1_Missense_Mutation_p.E158K|SGSM1_uc003abh.2_Missense_Mutation_p.E158K|SGSM1_uc003abj.2_Missense_Mutation_p.E158K|SGSM1_uc003abi.1_Missense_Mutation_p.E133K|SGSM1_uc003abf.2_Missense_Mutation_p.E158K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	158	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTATGAGAAGGAAGCTCTCCT	0.502000														30			4		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61432354	61432354	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61432354C>T	uc002jal.4	+	11	1986	c.1963C>T	c.(1963-1965)Cta>Tta	p.L655L	TANC2_uc010wpe.2_Silent_p.L565L|TANC2_uc002jam.1_Silent_p.L22L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	655							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGGGTCCTATCTATATCTGAA	0.383000														87			6		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147119331	147119331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147119331G>A	uc001epr.2	-	9	1645	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	394					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CATGTCCAGCGGGCAGAGCCC	0.502000														56			7		0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29858712	29858712	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:29858712C>T	uc002hgn.1	+	14	2105	c.1876C>T	c.(1876-1878)Ctg>Ttg	p.L626L	RAB11FIP4_uc002hgo.2_Silent_p.L524L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	626	FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCTCGCCATCCTGGACCACAA	0.567000														54			13		0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30437808	30437809	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30437808_30437809GG>AA	uc003xig.3	-	6	1001_1002	c.748_749CC>TT	c.(748-750)cca>TTa	p.P250L		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	250					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CACTTTCTTTGGTCCAGATTCC	0.485000														38			9		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985519	33985519	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33985519G>A	uc001bxm.1	-	68	10806	c.10629C>T	c.(10627-10629)tcC>tcT	p.S3543S	CSMD2_uc001bxn.1_Silent_p.S3399S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3399						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)				GGCGGCCAATGGACTCGGGGT	0.567000														27			11		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133220548	133220548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:133220548G>A	uc001uks.1	-	32	4209	c.4165C>T	c.(4165-4167)Cct>Tct	p.P1389S	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.P193S|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P1362S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1389					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TTGGAGCGAGGAAGGACCCGA	0.502000								DNA polymerases (catalytic subunits)						78			10		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40097199	40097199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40097199C>T	uc001cdp.3	-	2	251	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	HEYL_uc010oiw.2_Missense_Mutation_p.R39Q	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	67	Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GACCAAGCGTCGCAATTCAGA	0.458000														63			4		0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118828810	118828810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118828810G>A	uc001puh.3	+	4	475	c.422G>A	c.(421-423)aGg>aAg	p.R141K		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	141					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TTGACAGGAAGGAACATGGAA	0.617000														69			6		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083865	8083865	+	Silent	SNP	G	A	A	rs150412980		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8083865G>A	uc001qtr.3	-	3	748	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	162					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCCAACAACGATGCCCAGCT	0.478000														52			5		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52523677	52523677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52523677C>T	uc003ded.4	+	16	3573	c.3439C>T	c.(3439-3441)Cac>Tac	p.H1147Y	NISCH_uc003dee.4_Missense_Mutation_p.H636Y|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1147					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGAGCTCTTCCACAGCAGCAT	0.672000														62			9		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139110984	139110984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139110984G>A	uc010nbi.2	-	6	886	c.848C>T	c.(847-849)tCg>tTg	p.S283L		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	283					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAAATAAGACGAAAAGAAGGC	0.468000														63			7		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480929	20480929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20480929G>A	uc010bwe.3	+	4	723	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.E83K|ACSM2A_uc002dhf.4_Missense_Mutation_p.E162K|ACSM2A_uc002dhg.4_Missense_Mutation_p.E162K|ACSM2A_uc010vay.2_Missense_Mutation_p.E83K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	162					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCTGGGGATGAAGTCATCCA	0.448000														44			6		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351265	40351265	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:40351265C>T	uc003gva.1	+	3	748	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	244					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			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)	TCGTCAACCTCCTCATCCCAT	0.517000														237			22		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98453715	98453715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98453715C>T	uc003upo.3	-	3	832	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TMEM130_uc011kiq.2_Missense_Mutation_p.E196K|TMEM130_uc011kir.2_Missense_Mutation_p.E215K|TMEM130_uc003upn.3_Missense_Mutation_p.E113K	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	215	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCACCTCTTCCCACTCCGCC	0.577000														50			4		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94033889	94033889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:94033889C>T	uc003ung.1	+	6	772	c.301C>T	c.(301-303)Cca>Tca	p.P101S	COL1A2_uc011kib.1_Missense_Mutation_p.P101S|COL1A2_uc022ahm.1_5'Flank|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	101					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACCTAGAGGCCCACCTGGTGC	0.428000										HNSCC(75;0.22)				25			6		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861902	26861902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26861902C>T	uc010crm.3	+	7	1511	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	FOXN1_uc002hbj.3_Missense_Mutation_p.P438L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	438					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCAAGAACCCCCTGCAGGAC	0.667000														25			6		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113556998	113556998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113556998G>A	uc001tun.2	-	7	878	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	RASAL1_uc010syp.2_Missense_Mutation_p.P193S|RASAL1_uc001tul.3_Missense_Mutation_p.P193S|RASAL1_uc001tum.2_Missense_Mutation_p.P193S|RASAL1_uc010syq.2_Missense_Mutation_p.P193S|RASAL1_uc001tuo.4_Missense_Mutation_p.P193S|RASAL1_uc010syr.2_Missense_Mutation_p.P193S	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	193	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding	p.P193S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGTGGGGACGGGGCACCTGGC	0.597000														73			5		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691489	117691489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:117691489C>T	uc001twn.2	-	17	3415	c.2704G>A	c.(2704-2706)Gac>Aac	p.D902N	NOS1_uc021ren.1_Missense_Mutation_p.D532N|NOS1_uc021reo.1_Missense_Mutation_p.D532N|NOS1_uc001twm.2_Missense_Mutation_p.D868N	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	868	Flavodoxin-like.				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.G901R(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)	TCTCTGAGGTCGGGCCCATCG	0.562000														69			5		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46485071	46485071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46485071C>T	uc003cpq.3	-	12	1757	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	LTF_uc003fzr.3_Missense_Mutation_p.E462K|LTF_uc010hjh.3_Missense_Mutation_p.E504K|LTF_uc003cpr.3_Missense_Mutation_p.E493K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	506	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CTGAAATATTCATCTGGAGAG	0.502000														142			11		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273265	162273265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162273265C>T	uc002ubw.1	+	0	646	c.344C>T	c.(343-345)tCt>tTt	p.S115F	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	115						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAGCCACAGTCTGCGGCCACT	0.637000														174			18		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898126	175898126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:175898126G>A	uc003iuc.3	+	4	2120	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R	ADAM29_uc003iud.3_Missense_Mutation_p.G484R|ADAM29_uc010irr.3_Missense_Mutation_p.G484R|ADAM29_uc011cki.2_Missense_Mutation_p.G484R|ADAM29_uc021xuo.1_Missense_Mutation_p.G484R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	484	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGGAAGATGGAATTCCCTG	0.458000														23			4		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022835	18022835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:18022835G>A	uc021trm.1	+	0	940	c.721G>A	c.(721-723)Gac>Aac	p.D241N	MYO15A_uc021trl.1_Missense_Mutation_p.D241N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	241	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTATCACCGCGACGGCGACGA	0.652000														23			4		0	0	1	0	0
SMAD5	4090	broad.mit.edu	37	5	135508252	135508252	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:135508252C>A	uc003lbj.1	+	6	1349	c.905C>A	c.(904-906)cCt>cAt	p.P302H	SMAD5_uc003lbk.1_Missense_Mutation_p.P302H|SMAD5_uc003lbl.1_Missense_Mutation_p.P302H	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	Homo sapiens SMAD family member 5 (SMAD5), transcript variant 2, mRNA.	302	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCACAGATCCTTCAAATAAC	0.338000														28			4		0.014758	0.0148672	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885348	88885348	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:88885348G>A	uc003ydz.3	-	0	949	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	284								p.F284F(2)		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						ATGACACCAGGAATTGGCCAT	0.498000														46			12		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874606	10874606	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10874606G>A	uc003mzn.4	-	4	1215	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	381					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGATCACGGTTTGTAGGG	0.557000														173			8		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45507190	45507190	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45507190A>G	uc002iln.3	+	23	2932	c.2501A>G	c.(2500-2502)cAg>cGg	p.Q834R	C17orf57_uc002ilm.3_Missense_Mutation_p.Q738R	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	834							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GCAGCTACACAGATACTCTTA	0.373000														59			5		0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537686	52537686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52537686G>A	uc002pyk.3	-	4	1564	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	416			L -> V (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L416V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTACAATAAGATTACTCTTC	0.398000														77			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8979244	8979244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8979244C>T	uc002mkp.3	-	70	42331	c.42127G>A	c.(42127-42129)Gaa>Aaa	p.E14043K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.E860K|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14068	SEA 13.			Missing (in Ref. 3; AAK74120).	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						GGACCAGGTTCATTGTAACCT	0.488000														34			5		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235223	17235223	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:17235223G>A	uc002dfa.3	-	6	1459	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	458					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTTCCGAATGAACCTGGGAG	0.577000														29			5		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180151425	180151425	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180151425C>T	uc001gnz.3	+	5	798	c.723C>T	c.(721-723)ttC>ttT	p.F241F	QSOX1_uc001gny.3_Silent_p.F241F|QSOX1_uc001gob.1_Non-coding_Transcript	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	241					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGCTGTTCCGGAATGGCT	0.607000														155			34		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48247506	48247506	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48247506G>A	uc002iqi.3	+	6	786	c.750G>A	c.(748-750)gtG>gtA	p.V250V	SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Intron|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	250					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTGTGCAGGTGGATAAGTCAG	0.632000														23			5		0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	110303671	110303671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:110303671C>T	uc003vfq.2	-	5	958	c.515G>A	c.(514-516)aGa>aAa	p.R172K	IMMP2L_uc010ljr.2_Missense_Mutation_p.R172K	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TTCCTCTTCTCTCTGTACTGG	0.493000														48			5		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956672	42956672	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42956672C>T	uc003cmk.2	+	3	1371	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	ZNF662_uc003cmi.2_Silent_p.F369F|ZNF662_uc003cmj.2_Silent_p.F261F	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAAAGCTTCTTTTGCAAGG	0.463000														23			3		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78390841	78390841	+	Silent	SNP	C	T	T	rs143243521	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:78390841C>T	uc001xui.3	+	7	999	c.900C>T	c.(898-900)ttC>ttT	p.F300F	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.F232F|ADCK1_uc001xuk.1_Silent_p.F174F|ADCK1_uc001xul.3_Silent_p.F7F	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	307	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)		AGATGATCTTCGTCAATGGCT	0.582000														94			13		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869805	22869805	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22869805C>T	uc002zwe.3	-	1	403	c.150G>A	c.(148-150)ggG>ggA	p.G50G	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.G50G	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAAATCATCCCGACAAAGA	0.428000														63			14		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49586933	49586933	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:49586933G>A	uc003ozk.4	-	1	362	c.300C>T	c.(298-300)atC>atT	p.I100I	RHAG_uc010jzl.3_Silent_p.I100I|RHAG_uc010jzm.3_Silent_p.I100I	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	100					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGCTTTGCAGGATTCCCTGTA	0.453000														54			4		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97547928	97547928	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:97547928G>A	uc001drv.3	-	21	3002	c.2865C>T	c.(2863-2865)aaC>aaT	p.N955N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	955	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.N955K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTTACCACAGTTGATACACA	0.398000														39			8		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164060	150164060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150164060C>T	uc003whj.3	+	1	604	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	92						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCTCTCTGCTCCCAGCCTCCA	0.507000														78			6		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126699	82126699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:82126699C>T	uc001kca.1	+	4	906	c.526C>T	c.(526-528)Cct>Tct	p.P176S	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.P176S	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	176							protein binding	p.P176L(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CTCCAAATCTCCTTTTTAGGT	0.408000														110			5		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72021046	72021046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72021046G>A	uc002atb.1	+	7	1595	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	THSD4_uc002atd.1_Missense_Mutation_p.E180K|THSD4_uc010ukg.1_Missense_Mutation_p.E146K|THSD4_uc002ate.2_Missense_Mutation_p.E146K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	506						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCACCAACGAGATCTTGGA	0.458000														153			10		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90171980	90171980	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90171980C>T	uc002bof.2	-	18	3779	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	KIF7_uc010upw.1_Silent_p.Q720Q	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	1234					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCAGGAGCCTGTCTGCCCT	0.632000														36			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286383	152286383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152286383C>T	uc001ezu.1	-	2	1015	c.979G>A	c.(979-981)Gag>Aag	p.E327K	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	327	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.W326S(1)		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)			CTTGACTGCTCCCACGCAGAT	0.567000									Ichthyosis					147			23		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765398	18765398	+	Missense_Mutation	SNP	C	T	T	rs140827083	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18765398C>T	uc010exr.3	-	4	965	c.853G>A	c.(853-855)Gag>Aag	p.E285K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E343K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E283K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E343K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E326K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E360K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E345K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E283K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E135K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	343					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										ATGACGTTCTCATTGGTGAGC	0.572000														151			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248996	140248996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140248996G>A	uc003lia.2	+	0	1166	c.308G>A	c.(307-309)aGc>aAc	p.S103N	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.S103N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGTGCAGCATCCACCTG	0.562000														205			38		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122294236	122294236	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122294236G>A	uc001ubj.3	-	5	358	c.318C>T	c.(316-318)atC>atT	p.I106I	HPD_uc001ubk.3_Silent_p.I67I	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	106					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTACCTGCACGATGTAGTCAC	0.582000														55			8		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613448	72613448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72613448C>T	uc002jlb.2	-	1	334	c.197G>A	c.(196-198)gGa>gAa	p.G66E		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	66	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTCTCTTCTCCCTTGGTCTC	0.522000														82			8		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123324094	123324094	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123324094C>T	uc021pzz.1	-	4	1024	c.377_splice	c.e4-1	p.D126_splice	FGFR2_uc021pzv.1_Splice_Site_p.D126_splice|FGFR2_uc021pzw.1_Intron|FGFR2_uc021pzx.1_Splice_Site_p.D37_splice|FGFR2_uc021pzy.1_Splice_Site_p.D126_splice|FGFR2_uc010qtl.2_Splice_Site_p.D126_splice|FGFR2_uc010qtm.2_Intron|FGFR2_uc021qaa.1_Splice_Site_p.D126_splice|FGFR2_uc021qab.1_Splice_Site_p.D37_splice|FGFR2_uc021qac.1_Splice_Site_p.D56_splice|FGFR2_uc001lfn.4_Intron|FGFR2_uc010qtn.2_Splice_Site_p.D145_splice|FGFR2_uc010qto.2_Intron|FGFR2_uc001lfo.1_Splice_Site_p.D145_splice|FGFR2_uc010qtp.2_Splice_Site_p.D145_splice|FGFR2_uc010qtq.2_Splice_Site_p.D145_splice	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	126					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAGATGGCATCTGTATGCAAA	0.433000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					77			10		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671422	45671422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45671422C>T	uc021qgn.1	-	0	1052	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	CHST1_uc001mys.2_Missense_Mutation_p.R351Q	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	351					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCCGAGTTTCGCACGGTGCC	0.682000														65			6		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44955175	44955175	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44955175G>A	uc003coc.4	+	13	2086	c.2013G>A	c.(2011-2013)gtG>gtA	p.V671V		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	671					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCAAACAAGTGAAAGAGATTA	0.423000											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			13		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702628	27702628	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27702628G>A	uc001itu.2	-	0	670	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	184					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGCCCTGCACGAAGCGCCGCT	0.627000														157			7		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427765	47427765	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:47427765G>A	uc003gxh.3	+	8	1529	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	GABRB1_uc011bze.2_Silent_p.T315T	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	385					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGTGCTCACGAGCGTGAGCG	0.622000														56			5		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158509713	158509713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:158509713C>T	uc003qqx.2	+	23	3471	c.3365C>T	c.(3364-3366)tCg>tTg	p.S1122L	SYNJ2_uc003qqw.2_Missense_Mutation_p.S1122L|SYNJ2_uc003qqy.2_Missense_Mutation_p.S885L|SYNJ2_uc003qqz.2_Missense_Mutation_p.S739L|SYNJ2_uc003qra.2_Missense_Mutation_p.S465L	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1122							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTGAAAAAGTCGGCTTCAGAT	0.522000														100			17		0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11854584	11854584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11854584G>A	uc001atb.1	-	6	1445	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	MTHFR_uc001atc.2_Missense_Mutation_p.S393F	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	393					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GGCAGGGGAAGAGGAATTGCC	0.597000														54			18		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20439148	20439148	+	Silent	SNP	C	T	T	rs12921787	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20439148C>T	uc002dhe.3	+	6	1107	c.960C>T	c.(958-960)gtC>gtT	p.V320V		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	320					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCTGCTGTGTCCCAACCATCT	0.473000														117			8		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725381	10725381	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10725381G>A	uc001aro.3	-	4	584	c.264C>T	c.(262-264)atC>atT	p.I88I	CASZ1_uc001arp.1_Silent_p.I88I|CASZ1_uc009vmx.2_Silent_p.I112I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCACTTCTCGATCACTGCCC	0.701000														102			8		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664189	196664189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:196664189G>A	uc002utj.4	-	54	10285	c.10184C>T	c.(10183-10185)cCa>cTa	p.P3395L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3395					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						CTGCAACATTGGAATAACCTA	0.353000														74			6		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119626013	119626013	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:119626013C>T	uc004bjt.2	-	10	1838	c.1737_splice	c.e10-1	p.R579_splice	ASTN2_uc022bml.1_Splice_Site_p.R275_splice|ASTN2_uc022bmm.1_Splice_Site_p.R279_splice	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	630						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCTTCTTCCCTTGGAGAGAA	0.423000														12			3		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24390604	24390604	+	Missense_Mutation	SNP	C	T	T	rs142799431	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24390604C>T	uc001bin.4	-	29	3743	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	MYOM3_uc001bil.4_Missense_Mutation_p.D87N|MYOM3_uc001bim.4_Missense_Mutation_p.D851N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1194	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCCCTCGATCGTCAGAAACC	0.552000														77			5		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727686	39727686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39727686C>T	uc002hxe.4	-	0	625	c.559G>A	c.(559-561)Gat>Aat	p.D187N	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	187	Coil 1A.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCGTACCAATCCTGGATCTTA	0.488000														118			6		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82125844	82125844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:82125844C>T	uc003hmh.2	-	0	371	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PRKG2_uc011cch.1_Missense_Mutation_p.G120R	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	120					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCCTTTGCTCCCCTCCTGCTA	0.537000														55			15		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846579	98846579	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98846579C>T	uc002syo.3	+	15	2481	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Silent_p.V258V|VWA3B_uc002sym.3_Silent_p.V739V|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.V396V|VWA3B_uc002syp.1_Silent_p.V131V|VWA3B_uc002syq.1_Silent_p.V15V|VWA3B_uc002syr.1_Silent_p.V56V	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	739										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATCTGATGTCGATTCAACAC	0.388000														44			6		0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577468	16577468	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16577468A>G	uc001ayg.3	-	9	2067	c.1851T>C	c.(1849-1851)atT>atC	p.I617I	FBXO42_uc001ayf.3_Silent_p.I524I	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	617										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGCGGCGAGCAATGGGAGGTA	0.582000														197			15		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799454	212799454	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:212799454G>A	uc010pth.1	-	0		c.660C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.R412Q			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGAAGGGAGCGAACCCAGGCC	0.622000														37			17		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907576	12907576	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12907576C>T	uc010obf.2	-	1	793	c.567G>A	c.(565-567)caG>caA	p.Q189Q	LOC649330_uc009vno.2_Silent_p.Q189Q	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	189							nucleic acid binding|nucleotide binding										TCTGTTTTATCTGGGTCAACT	0.428000														126			44		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64878954	64878954	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64878954C>T	uc001ocr.1	+	9	2284	c.2244C>T	c.(2242-2244)ctC>ctT	p.L748L	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Silent_p.L624L	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	748					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						ACGAAGAACTCGTGCACTTGC	0.637000														46			4		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606343	6606343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6606343G>A	uc002gdj.3	-	4	750	c.662C>T	c.(661-663)aCc>aTc	p.T221I	SLC13A5_uc010clq.3_Missense_Mutation_p.T178I|SLC13A5_uc002gdk.3_Missense_Mutation_p.T204I|SLC13A5_uc010vtf.2_Missense_Mutation_p.T221I|SLC13A5_uc002gdl.1_Missense_Mutation_p.T203I	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	221						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAGGGTGGCGGTGCCCCCGAT	0.632000														95			5		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45203369	45203369	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45203369G>T	uc001myo.3	+	2	403	c.154G>T	c.(154-156)Gat>Tat	p.D52Y		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	52										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGCCGTGGGGGATATGGTGAC	0.602000														45			9		0.00448238	0.00451751	1	1	0
MDGA1	266727	broad.mit.edu	37	6	37622190	37622191	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37622190_37622191GG>AA	uc003onu.1	-	5	2020_2021	c.841_842CC>TT	c.(841-843)cca>TTa	p.P281L	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	281	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CAGGGGCAGTGGGCCAGGCCCA	0.639000														32			4		0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55186844	55186844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55186844C>T	uc001cxv.3	+	3	565	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.R134C			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	134							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AGGCAATTTTCGTTCTGCTCT	0.358000														15			3		0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184801295	184801295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:184801295G>A	uc003fpd.3	-	1	444	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA.	85										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GGCCTGGCAGGAATCTCAGTG	0.473000														72			5		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044985	55044985	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55044985G>A	uc010yfa.1	+	2		c.211G>A			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAGCCTGGCCGAGCCCTGTGG	0.572000														45			5		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508806	71508806	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71508806C>A	uc011caw.1	+	8	1944	c.1663C>A	c.(1663-1665)Cct>Act	p.P555T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	555					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCCTTCTCCTGCAAAAGA	0.423000														90			6		0.00198382	0.00200053	1	1	0
VIL1	7429	broad.mit.edu	37	2	219290451	219290451	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219290451C>T	uc002vib.3	+	2	286	c.264C>T	c.(262-264)ttC>ttT	p.F88F	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F88F|VIL1_uc002vic.1_Silent_p.F88F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	88	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGATGACTTCCTGAAGGGCC	0.612000														94			5		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346157	102346157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:102346157C>T	uc010utr.2	+	0	235	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCCACAGCTCCCAAGATGAT	0.463000														122			14		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63979141	63979141	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63979141C>T	uc001nyl.2	+	5	857	c.708C>T	c.(706-708)ctC>ctT	p.L236L	FERMT3_uc001nym.2_Silent_p.L236L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	236	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGCGGTGTCTCATGCAGCAGG	0.672000														71			14		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51887520	51887520	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51887520C>T	uc001rys.1	+	19	2911	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F	SLC4A8_uc001rym.3_Silent_p.F858F|SLC4A8_uc001ryn.3_Silent_p.F858F|SLC4A8_uc001ryo.2_Silent_p.F858F|SLC4A8_uc010snj.2_Silent_p.F938F|SLC4A8_uc001ryr.3_Silent_p.F911F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	911					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACGGAGTTTTCCTTTACATGG	0.413000														125			17		0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9147804	9147804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9147804G>A	uc001qvh.3	+	2	288	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	KLRG1_uc001qvg.3_Missense_Mutation_p.E93K	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	93	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	p.E93Q(2)|p.E92K(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTCAGTGGAGGAAAAGGACTG	0.448000														9			4		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133465	55133465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55133465G>A	uc003han.4	+	5	1100	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G151S|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	257	Ig-like C2-type 3.				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			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)	GAAAGGCAAAGGCATCACAAT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				44			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140306915	140306915	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140306915G>A	uc003lih.2	+	0	614	c.438G>A	c.(436-438)ccG>ccA	p.P146P	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.P146P	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	170	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P146L(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)			TTACTCTCCCGAATGCCCAAG	0.592000														62			7		0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657764	52657764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52657764C>T	uc003paz.3	-	5	548	c.436G>A	c.(436-438)Gac>Aac	p.D146N	GSTA1_uc021zan.1_Missense_Mutation_p.D146N	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	146	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ACAAGGTAGTCTTGTCCATGG	0.532000														66			10		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102723	3102723	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3102723C>T	uc001akf.3	+	1	154	c.72C>T	c.(70-72)ccC>ccT	p.P24P	PRDM16_uc001ake.3_Silent_p.P24P|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Silent_p.P24P	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	24					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)		TGTATGAGCCCAACCGGGACC	0.632000			T	EVI1	"""MDS, AML"""									94			6		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48267003	48267003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48267003C>T	uc003toq.2	+	5	637	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	ABCA13_uc003top.2_Missense_Mutation_p.L205F|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	205					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAGTGAACCTTCTCCAGAC	0.353000														19			3		0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78147750	78147750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:78147750G>A	uc001ozi.3	-	13	1776	c.1400C>T	c.(1399-1401)cCt>cTt	p.P467L	NARS2_uc010rsq.2_Missense_Mutation_p.P240L	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	467					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCTTGGGAAAGGGATAACATC	0.463000														111			8		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570385	47570385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47570385G>A	uc002pga.4	-	14	3178	c.3140C>T	c.(3139-3141)tCt>tTt	p.S1047F	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1047							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)		GAGGATGCGAGACAGAAGTTC	0.706000														33			11		0	0	1	0	0
DEGS1	8560	broad.mit.edu	37	1	224377347	224377347	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:224377347G>C	uc001hoj.3	+	1	280	c.151G>C	c.(151-153)Gtt>Ctt	p.V51L		NM_003676	NP_003667	O15121	DEGS1_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 1 (DEGS1), mRNA.	51					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AATTATGATGGTTCTCACCCA	0.368000														77			13		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031272	56031272	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56031272C>T	uc010spq.2	+	0	597	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCGAGATCTCCGTGATGACAG	0.547000														85			5		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413072	124413072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124413072C>T	uc010sam.2	-	0	479	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160E(2)		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)		CATTATGCTTCCTGTGTGGGC	0.502000														14			4		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123539081	123539081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123539081C>T	uc010nqy.3	-	26	5255	c.5191G>A	c.(5191-5193)Ggt>Agt	p.G1731S	ODZ1_uc011muj.2_Missense_Mutation_p.G1730S|ODZ1_uc004euj.3_Missense_Mutation_p.G1724S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1724					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CGCAGGGAACCATCTGGATTC	0.537000														9			6		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190903874	190903874	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:190903874T>C	uc011clg.2	-	3	1111	c.893A>G	c.(892-894)aAc>aGc	p.N298S				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	370					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										GGCTGTGTTGTTCCCAGTGAA	0.547000														110			6		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973170	77973170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:77973170C>T	uc003ugx.3	-	8	1587	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	MAGI2_uc003ugy.3_Missense_Mutation_p.E445K|MAGI2_uc010ldx.1_Missense_Mutation_p.E54K|MAGI2_uc010ldy.1_Missense_Mutation_p.E54K|MAGI2_uc011kgr.1_Missense_Mutation_p.E277K|MAGI2_uc011kgs.1_Missense_Mutation_p.E282K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	445	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCAGGCTCGTCTCCACCA	0.478000														42			6		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738878	38738878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38738878C>T	uc003ciq.3	-	26	5833	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1945					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGGTGGCTTCATCTTCATTT	0.478000														56			5		0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156835556	156835556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156835556G>A	uc003ipf.1	+	7	872	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	270					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.E270D(1)		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)	CTTATTTGATGAGAAACGTCA	0.353000														14			4		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7808467	7808467	+	Silent	SNP	C	T	T	rs146189491		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7808467C>T	uc002gjd.2	+	25	4301	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	CHD3_uc002gje.2_Silent_p.F1374F|CHD3_uc002gjf.2_Silent_p.F1374F|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1374					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGACTTCGATGAACGTC	0.512000														64			5		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11738872	11738872	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11738872T>C	uc002rbk.1	+	14	2519	c.2219T>C	c.(2218-2220)cTg>cCg	p.L740P	GREB1_uc002rbo.1_Missense_Mutation_p.L374P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	740						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGTATGTTCTGAAGCTAGAC	0.458000														93			13		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241814562	241814562	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241814562C>T	uc002waa.4	+	6	838	c.717C>T	c.(715-717)tcC>tcT	p.S239S	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	239					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCCCTTCTCCTTCTACCTGG	0.602000														62			8		0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131151038	131151038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131151038C>T	uc011kpm.2	+	14	1856	c.1792C>T	c.(1792-1794)Cat>Tat	p.H598Y	MKLN1_uc011kpl.2_Missense_Mutation_p.H575Y|MKLN1_uc010lmh.2_Missense_Mutation_p.H598Y|MKLN1_uc003vqs.3_Missense_Mutation_p.H391Y|MKLN1_uc003vqu.3_Missense_Mutation_p.H88Y	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	598					signal transduction	cytoplasm	protein binding	p.H598D(2)|p.V597I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTATAGGTTCATTACTTATT	0.358000														86			8		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163011	72163011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72163011C>T	uc002fcc.4	-	12	2091	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E	PMFBP1_uc002fcd.3_Missense_Mutation_p.G635E|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.G490E|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	640								p.A639T(1)		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)				TTCAAGTTCTCCCTCCATCAG	0.488000														215			19		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150889963	150889963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150889963C>T	uc004fex.3	+	2	415	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	111						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATACGTTTCCATTATGATCG	0.602000														29			18		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343217	130343217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:130343217C>T	uc010scd.2	+	7	2354	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GAGGTCCTCTCCGTGGGGAAG	0.672000														103			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152720790	152720790	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152720790G>A	uc021zhb.1	-	45	7421	c.7198C>T	c.(7198-7200)Cag>Tag	p.Q2400*	SYNE1_uc003qot.4_Nonsense_Mutation_p.Q2407*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q2400*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q2383*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2400					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTGGCCTGGGTTTTGGAG	0.507000										HNSCC(10;0.0054)				70			5		0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24633331	24633331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24633331C>T	uc001wmq.3	+	5	1457	c.637C>T	c.(637-639)Cct>Tct	p.P213S	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.P111S	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	213					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GTTTCTGCTTCCTCCAGAGCC	0.532000														82			9		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229746	39229746	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39229746G>A	uc003cjk.2	-	1	1420	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	XIRP1_uc003cji.3_Silent_p.V397V|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.V397V	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	397							actin binding	p.K396E(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GACCCACTTGGACCTTGTCTC	0.592000														159			19		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3221963	3221963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3221963C>T	uc021xkv.1	+	52	7442	c.7297C>T	c.(7297-7299)Cct>Tct	p.P2433S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2433					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACAGCATTCCCTGAGATCCC	0.512000														113			11		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37172795	37172795	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:37172795C>T	uc022abv.1	-	13	1841	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	ELMO1_uc011kbc.2_Silent_p.G281G|ELMO1_uc003tfk.2_Silent_p.G377G|ELMO1_uc010kxg.2_Silent_p.G377G	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	377	ELMO.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCCAACATCCCAGGTGGAG	0.453000														54			11		0	0	1	0	0
RNF5P1	286140	broad.mit.edu	37	8	38458362	38458362	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:38458362G>A	uc003xly.3	-	0	414	c.357C>T	c.(355-357)ttC>ttT	p.F119F						Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA.																		ATGAGAAGTGGAAGCCCCCGG	0.572000														345			21		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33500982	33500982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33500982G>A	uc010gey.2	+	2	579	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ACSS2_uc002xbc.2_Missense_Mutation_p.R58Q|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Missense_Mutation_p.R153Q|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	153					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATGTTCTCCGAAAACAGGGT	0.532000														68			5		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950135	96950135	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96950135G>A	uc002svu.3	-	30	4485	c.4353C>T	c.(4351-4353)ttC>ttT	p.F1451F	SNRNP200_uc002svt.3_Silent_p.F61F|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1451	Helicase ATP-binding 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATCCACCACGAAGAGGTTGA	0.557000														50			15		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143576	55143576	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55143576C>T	uc002qgj.3	+	5	889	c.549C>T	c.(547-549)tcC>tcT	p.S183S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.S183S|LILRB1_uc002qgk.3_Silent_p.S183S|LILRB1_uc002qgm.3_Silent_p.S183S|LILRB1_uc010erq.3_Silent_p.S183S|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	183	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.F182F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCATCTTCTCCGTGGGCCCCG	0.577000										HNSCC(37;0.09)				96			15		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242572423	242572423	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242572423G>A	uc002wbt.3	-	1	1442	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	383							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCTGGCTGTCGGAGCGGCTGA	0.637000														32			4		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113444379	113444379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113444379C>T	uc001tuj.3	+	7	1770	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	OAS2_uc001tui.1_Missense_Mutation_p.R544C	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	544	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGATTTAATTCGCCTGGTGAA	0.473000														86			7		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124351025	124351025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124351025C>T	uc001lgk.1	+	18	2274	c.2168C>T	c.(2167-2169)tCg>tTg	p.S723L	DMBT1_uc001lgl.1_Missense_Mutation_p.S713L|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.S723L|DMBT1_uc021qag.1_Missense_Mutation_p.S713L|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.S723L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	723					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)				TTACCTCCATCGACAGTAGGT	0.453000														242			19		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922732	24922732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922732C>T	uc001ywo.3	+	0	2192	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	573					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)		GCGGTAGACCCTGAAGTAGTT	0.458000														75			5		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373378	56373378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56373378C>T	uc002qmd.4	+	4	2461	c.2039C>T	c.(2038-2040)tCt>tTt	p.S680F	NLRP4_uc002qmf.3_Missense_Mutation_p.S605F|NLRP4_uc010etf.3_Missense_Mutation_p.S511F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	680							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)		GTTTCCTTTTCTGGCCAGAGT	0.433000														53			6		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45774547	45774547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:45774547C>T	uc010gpt.1	+	1	282	c.182C>T	c.(181-183)tCg>tTg	p.S61L	TRPM2_uc002zet.1_Missense_Mutation_p.S61L|TRPM2_uc002zeu.1_Missense_Mutation_p.S61L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S61L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	61						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCTCAGTTCGTGGATTCCT	0.458000														77			11		0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49917396	49917396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:49917396G>A	uc001zxq.3	+	2	309	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	DTWD1_uc001zxp.4_Non-coding_Transcript|DTWD1_uc001zxs.3_Missense_Mutation_p.R11Q|DTWD1_uc001zxr.3_5'UTR	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	Homo sapiens DTW domain containing 1 (DTWD1), transcript variant 1, mRNA.	11										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTTCTCAAACGAAGTGAAGAA	0.328000														9			7		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151308	139151308	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139151308G>A	uc003yuy.3	-	17	3993	c.3822C>T	c.(3820-3822)tcC>tcT	p.S1274S	FAM135B_uc003yux.3_Silent_p.S1175S|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1274										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)			GTAGAGACCCGGATTTCTTCA	0.403000										HNSCC(54;0.14)				64			6		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269216	1269216	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1269216G>A	uc001lta.3	+	30	11165	c.11106G>A	c.(11104-11106)acG>acA	p.T3702T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3702	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACTGAGTCCA	0.667000														173			19		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45456599	45456599	+	Missense_Mutation	SNP	G	A	A	rs144068587	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45456599G>A	uc002iln.3	+	13	1993	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	C17orf57_uc002ilm.3_Missense_Mutation_p.R425Q|C17orf57_uc010daz.1_Missense_Mutation_p.R473Q	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	521	EF-hand 1.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GCCAAGGAGCGAAGTTTTCCT	0.363000														36			6		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297438	36297438	+	Missense_Mutation	SNP	C	T	T	rs148473605		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36297438C>T	uc002obx.1	-	7	1141	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	375					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCTTCACTCCGAAGGCCAGG	0.627000														98			9		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201331106	201331106	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201331106C>T	uc001gwf.3	-	12	714	c.645G>A	c.(643-645)aaG>aaA	p.K215K	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_Silent_p.K208K|TNNT2_uc001gwg.3_Silent_p.K205K|TNNT2_uc001gwh.3_Silent_p.K196K|TNNT2_uc001gwi.3_Silent_p.K175K|TNNT2_uc009wzr.3_Silent_p.K146K	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	218			R -> L (in CMD1D).		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GAATCTTCTTCTTCTTTTCCC	0.577000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		173			7		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35812752	35812752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35812752C>T	uc003anu.4	+	11	1629	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	MCM5_uc003anv.4_Missense_Mutation_p.S469L|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Missense_Mutation_p.S296L	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	512	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	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						ACCATCTTGTCGCGCTTCGAC	0.597000														99			10		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270685	37270686	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37270685_37270686CC>TT	uc001caz.2	-	14	2602_2603	c.2467_2468GG>AA	c.(2467-2469)ggc>AAc	p.G823N	GRIK3_uc001cba.1_Missense_Mutation_p.G823N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	823					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AATGAAGATGCCCCCGATCTTC	0.594000														104			8		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60349337	60349337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60349337C>T	uc002izq.2	-	4	323	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TBC1D3P2_uc010woz.2_Non-coding_Transcript|DQ571391_uc010wpa.1_5'Flank|DQ580080_uc021ubh.1_5'Flank					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CGGCTGATCTCCCGCCGAATT	0.557000														417			27		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90318032	90318032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90318032C>T	uc004apc.3	+	24	3098	c.2960C>T	c.(2959-2961)tCg>tTg	p.S987L	DAPK1_uc004apd.3_Missense_Mutation_p.S987L|DAPK1_uc011ltg.2_Missense_Mutation_p.S921L|DAPK1_uc011lth.2_Missense_Mutation_p.S724L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	987					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAGCTGATGTCGCTGCAGCAG	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of					62			5		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689716	25689716	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25689716G>T	uc003nfb.3	+	8	792	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	SCGN_uc010jpz.3_Nonsense_Mutation_p.E88*	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	197	EF-hand 5.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCTACTGAAGAAAGGAAAAG	0.388000														53			6		0.248553	0.249631	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354272	45354272	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45354272C>T	uc002xsl.3	+	1	694	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	199						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGGACCTCATCCCACTCCAGG	0.622000														74			9		0	0	1	0	0
RBM18	92400	broad.mit.edu	37	9	125004171	125004171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125004171G>A	uc004bma.2	-	5	731	c.565C>T	c.(565-567)Cga>Tga	p.R189*	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	189							RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						CATCATCTTCGAGATTTCCAT	0.403000														30			5		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168004	110168004	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110168004C>T	uc009wfh.1	+	2	875	c.333C>T	c.(331-333)ttC>ttT	p.F111F	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.F30F|AMPD2_uc001dyc.1_Silent_p.F111F|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	111					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCAAGCACTTCCCGCTCGACC	0.677000														94			27		0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39191045	39191045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39191045C>T	uc002hvv.3	-	0	63	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	10						extracellular region|keratin filament	structural constituent of epidermis	p.C9S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGGATATCCACAGAAGCT	0.587000														62			4		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943161	12943161	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12943161G>A	uc001aun.2	-	1	126	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	19								p.L19M(2)		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)		TCCCTTAGCAGGCTCCGCCCT	0.562000														191			14		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:141607771G>A	uc002tvj.1	-	28	5811	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	LRP1B_uc010fnl.1_Silent_p.F795F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1613					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1612D(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)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)				24			6		0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958002	61958002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61958002G>A	uc002jcl.1	-	3	648	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron|GH2_uc002jcm.1_Intron	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTCACGAGGGGAAATGAAGAA	0.562000														113			14		0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65061632	65061632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65061632C>T	uc001odj.3	+	13	1585	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	POLA2_uc010rod.1_Missense_Mutation_p.S210F|POLA2_uc001odk.3_Missense_Mutation_p.S115F	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	418					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGCTCCGGCTCCCACCTTGTC	0.522000														446			32		0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79813082	79813082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79813082G>A	uc002kbn.1	-	3	757	c.560C>T	c.(559-561)aCt>aTt	p.T187I	P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	187					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ACTGTTGGAAGTGATCCCAAA	0.532000														247			19		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112875	168112875	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168112875G>A	uc010jjg.3	-	30	3813	c.3393C>T	c.(3391-3393)gaC>gaT	p.D1131D	SLIT3_uc003mab.3_Silent_p.D1124D	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1124	EGF-like 6.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCGTACTGGTCGCATGGGC	0.642000														27			4		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101549206	101549206	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:101549206C>T	uc002bwr.3	+	6	1246	c.927C>T	c.(925-927)ctC>ctT	p.L309L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	309					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCTGAACCTCTCCGACAACC	0.632000											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			6		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54871658	54871658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54871658G>A	uc002qfk.1	-	3	696	c.386C>T	c.(385-387)tCc>tTc	p.S129F	LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Missense_Mutation_p.S128F|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.2_Missense_Mutation_p.S122F|LAIR1_uc002qfo.3_Missense_Mutation_p.S111F	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	129						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGTGTCCGGGGAGTCCGGGCC	0.622000														58			4		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808509	18808509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:18808509G>A	uc001bax.3	+	0	1086	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.R127K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	345						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCCGAAAGAGCCGCCTCC	0.677000														20			5		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74363359	74363359	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74363359C>T	uc002axa.1	-	17	2015	c.1974G>A	c.(1972-1974)ctG>ctA	p.L658L	DQ572823_uc010ulg.2_5'Flank|DQ582073_uc021sqc.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	658										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CGTTGTTGTCCAGGCTCACTT	0.622000														98			5		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198340	170198340	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:170198340G>A	uc003fgz.2	-	6	2047	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	577						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGCAGAAGATGAACATGAGGA	0.562000														33			4		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189035	103189035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:103189035C>T	uc003hwb.1	-	5	1571	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	SLC39A8_uc011ceo.1_Missense_Mutation_p.E348K|SLC39A8_uc003hwa.1_Missense_Mutation_p.E281K|SLC39A8_uc003hwc.2_Missense_Mutation_p.E348K	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	348						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	p.H347H(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TTACCTAACTCGTGGGGAAAC	0.448000														12			4		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175596	51175596	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51175596G>A	uc021tif.1	-	1	568	c.246C>T	c.(244-246)ctC>ctT	p.L82L	SALL1_uc021tid.1_Silent_p.L82L|SALL1_uc021tie.1_Silent_p.L179L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	179					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGTCCCCGAGTTGAGGTA	0.617000														60			11		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641393	156641393	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156641393G>A	uc001fpq.3	-	3	2720	c.2587C>T	c.(2587-2589)Cta>Tta	p.L863L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	863	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTTTTCTAGAGGATTCATT	0.458000														98			17		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40773305	40773305	+	Missense_Mutation	SNP	G	A	A	rs146060713		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:40773305G>A	uc004abs.2	-	4	2122	c.1970C>T	c.(1969-1971)cCc>cTc	p.P657L	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.P657L	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACATTCATAGGGTTTCTCCCC	0.423000														63			11		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037601	48037601	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:48037601C>T	uc003gxw.3	+	5	711	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	215						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGCTGTGATCATAACTGTGA	0.368000														86			5		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884053	24884053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24884053C>T	uc001wpf.4	+	8	3416	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1033					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGTGCCCGTCCCTTTCGGAG	0.647000														51			8		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175457	207175457	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:207175457A>G	uc002vbp.2	+	4	6455	c.6205A>G	c.(6205-6207)Ata>Gta	p.I2069V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2069							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTGAGTGTAATAGTACCAGA	0.368000														25			3		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45923453	45923453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45923453G>A	uc010zxy.1	-	4	627	c.545C>T	c.(544-546)tCc>tTc	p.S182F	ZMYND8_uc010ghr.1_Missense_Mutation_p.S130F|ZMYND8_uc002xst.1_Missense_Mutation_p.S130F|ZMYND8_uc002xsu.1_Missense_Mutation_p.S155F|ZMYND8_uc002xsv.1_Missense_Mutation_p.S130F|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.S130F|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Missense_Mutation_p.S155F|ZMYND8_uc002xtb.1_Missense_Mutation_p.S175F|ZMYND8_uc002xss.2_Missense_Mutation_p.S155F|ZMYND8_uc010zxz.1_Missense_Mutation_p.S150F|ZMYND8_uc002xtc.1_Missense_Mutation_p.S175F|ZMYND8_uc002xtd.1_Missense_Mutation_p.S150F|ZMYND8_uc002xte.1_Missense_Mutation_p.S155F|ZMYND8_uc010zya.1_Missense_Mutation_p.S155F|ZMYND8_uc002xtf.1_Missense_Mutation_p.S175F|ZMYND8_uc002xtg.3_Missense_Mutation_p.S149F|ZMYND8_uc010ghs.2_Missense_Mutation_p.S149F	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	155	Bromo.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAGCAGGTAGGATAACTGTTC	0.398000														83			6		0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76634064	76634064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:76634064C>T	uc002bbw.1	+	5	1046	c.968C>T	c.(967-969)tCc>tTc	p.S323F	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCCCAGGTCTCCTTCTCCGAG	0.677000														95			6		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645855	51645855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51645855C>T	uc002pvv.1	+	0	298	c.229C>T	c.(229-231)Cca>Tca	p.P77S	SIGLEC7_uc002pvw.1_Missense_Mutation_p.P77S|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.P77S	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	77	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGGAAGGCTCCAGTGGCCAC	0.567000														81			12		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103579	2103579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2103579C>T	uc001aiq.3	+	11	1308	c.1147C>T	c.(1147-1149)Ctc>Ttc	p.L383F	PRKCZ_uc001air.3_Missense_Mutation_p.L200F|PRKCZ_uc010nyw.2_Missense_Mutation_p.L279F|PRKCZ_uc001ais.3_Missense_Mutation_p.L200F|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Missense_Mutation_p.L231F	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	383	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GGACAACGTCCTCCTGGATGC	0.627000														43			8		0	0	1	0	0
EPCAM	4072	broad.mit.edu	37	2	47600655	47600655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47600655C>T	uc002rvx.3	+	1	488	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C		NM_002354	NP_002345	P16422	EPCAM_HUMAN	Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA.	44					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GAATAATAATCGTCAATGCCA	0.318000														14			7		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21719572	21719572	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:21719572C>T	uc002nqd.1	+	3	854	c.717C>T	c.(715-717)aaC>aaT	p.N239N	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	239					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						AAGCATTTAACCACTACTCAA	0.393000														35			5		0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224871	59224871	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:59224871G>A	uc010rku.2	+	0	438	c.438G>A	c.(436-438)gtG>gtA	p.V146V		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V146V(2)		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						CCTTGGTGGTGGCTTCTTGGG	0.507000														94			22		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073120	34073120	+	Missense_Mutation	SNP	C	T	T	rs139624793	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34073120C>T	uc002hjv.2	-	5	1424	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	466					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAGGCACTCGGCTGGGCCA	0.622000														109			9		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456402	60456402	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:60456402G>A	uc001czs.2	-	11	1692	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	C1orf87_uc001czr.1_Silent_p.F120F	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	528							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCCCGAACGGAATCTGCGCA	0.483000														52			20		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211707	50211707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50211707G>A	uc003cyj.3	+	4	578	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	SEMA3F_uc003cyk.3_Missense_Mutation_p.R127Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	127	Sema.				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)		CCCTGGAACCGAACACACCTG	0.662000														72			5		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6958515	6958515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:6958515G>A	uc002knm.3	-	54	8019	c.7925C>T	c.(7924-7926)tCg>tTg	p.S2642L	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.S95L|LAMA1_uc010wzj.2_Missense_Mutation_p.S2118L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2642	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCATGGAACGATCTTCTCAT	0.463000														44			6		0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32755144	32755144	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:32755144C>A	uc010ske.2	+	6	1306	c.1222C>A	c.(1222-1224)Ctt>Att	p.L408I	FGD4_uc001rlc.3_Missense_Mutation_p.L381I|FGD4_uc001rky.3_Missense_Mutation_p.L48I|FGD4_uc001rkz.3_Missense_Mutation_p.L296I|FGD4_uc001rla.3_5'UTR|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	296					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.Y407N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GGCACCATTCCTTAAGATGTA	0.328000														107			9		7.03913e-09	7.13258e-09	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149901600	149901600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149901600G>A	uc001etl.4	-	15	2107	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.P547L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	619	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)			CAGCCCTGGAGGTAAAGGGCA	0.592000														92			7		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32248971	32248971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:32248971G>A	uc003jhq.3	-	8	973	c.803C>T	c.(802-804)tCc>tTc	p.S268F	MTMR12_uc010iuk.3_Missense_Mutation_p.S268F|MTMR12_uc010iul.3_Missense_Mutation_p.S268F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	268	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTGTGGCAGGACCAACACCA	0.408000														113			14		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229874	39229874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39229874C>T	uc003cjk.2	-	1	1292	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	XIRP1_uc003cji.3_Missense_Mutation_p.D355N|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.D355N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	355							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCAGAGTGTCCAGCGCTCGG	0.567000														124			7		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602848	5602848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5602848C>T	uc010qzi.2	+	0	742	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCGCCTCCTTTCTCAAGA	0.502000														136			8		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628021	71628021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:71628021C>T	uc004agy.3	-	0	1019	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	330	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCCTCGTAGTCGTCAAAGTTA	0.527000														67			5		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230272017	230272017	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:230272017A>C	uc002vpv.3	-	9	1801	c.1654T>G	c.(1654-1656)Tgt>Ggt	p.C552G		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	552	EGF-like 9.|Follistatin-like.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCGTTCAGACAGCTGACGTTA	0.527000														24			6		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53671347	53671347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53671347C>T	uc001sck.2	+	9	2270	c.2179C>T	c.(2179-2181)Cgt>Tgt	p.R727C	ESPL1_uc001scj.2_Missense_Mutation_p.R402C|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	727					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAGGAAGATCGTTTCCTATA	0.502000														72			7		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3779715	3779715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3779715G>A	uc002cvv.3	-	30	5537	c.5333C>T	c.(5332-5334)tCg>tTg	p.S1778L	CREBBP_uc002cvw.3_Missense_Mutation_p.S1740L	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1778	Interaction with TRERF1.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCACCAGCGACTGGATGCA	0.662000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							36			7		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123366088	123366088	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123366088G>A	uc003ego.3	-	26	4884	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I	MYLK_uc010hrr.3_Intron|MYLK_uc011bjv.2_Silent_p.I334I|MYLK_uc011bjw.2_Silent_p.I1534I|MYLK_uc003egp.3_Silent_p.I1465I|MYLK_uc003egq.3_Silent_p.I1534I|MYLK_uc003egr.3_Silent_p.I1465I|MYLK_uc003egs.3_Silent_p.I1358I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1534	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGACCATGACGATGTTGGCCT	0.567000														43			6		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105095	207105095	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207105095C>T	uc001hez.3	-	8	2245	c.2061G>A	c.(2059-2061)gaG>gaA	p.E687E	PIGR_uc009xbz.3_Silent_p.E687E	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	687						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCTGGAGTTCTCGAAGTCTG	0.517000														118			9		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857312	113857312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113857312G>A	uc010rxb.2	+	6	1029	c.796G>A	c.(796-798)Gac>Aac	p.D266N	HTR3A_uc010rxa.2_Missense_Mutation_p.D266N|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.D245N	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	260					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGGTCATGGACATCGTGGG	0.577000														64			8		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117552761	117552761	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117552761C>T	uc010oxb.1	+	1	391	c.333C>T	c.(331-333)ctC>ctT	p.L111L	CD101_uc009whd.3_Silent_p.L111L|CD101_uc010oxc.1_Silent_p.L111L|CD101_uc010oxd.1_Silent_p.L111L	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	111	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTCAAAACTCCAGATGAAGG	0.478000														27			8		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588393	31588393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31588393C>T	uc002rnv.1	-	22	2553	c.2474G>A	c.(2473-2475)cGa>cAa	p.R825Q		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	825					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R825Q(2)|p.R825*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGCATGCATCGCACAGGGCG	0.577000														81			6		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016868	58016868	+	Missense_Mutation	SNP	C	T	T	rs138048824		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:58016868C>T	uc001spe.3	+	6	1312	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	334						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TTTCCCAACTCGGCTACGCTG	0.547000														186			16		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40029401	40029401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40029401G>A	uc001cdl.2	-	11	2451	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	PABPC4_uc010oiv.1_Missense_Mutation_p.A502V|PABPC4_uc001cdm.2_Missense_Mutation_p.A489V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	502					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTTCTGCACAGCTGTGGGAAC	0.562000														85			8		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355349	56355349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56355349G>A	uc002ivu.1	-	6	1220	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	348					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCTGGCCAGGGGCTCCTCGCT	0.647000														43			4		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205065952	205065952	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205065952G>A	uc010prd.2	-	10	1640	c.1359C>T	c.(1357-1359)ccC>ccT	p.P453P	RBBP5_uc010pre.2_Silent_p.P291P|RBBP5_uc001hbu.2_Silent_p.P418P|RBBP5_uc001hbv.2_Silent_p.P418P	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	418					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CATCCGGTGGGGGGCCGTAAG	0.502000														123			10		0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068524	48068524	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48068524T>A	uc003tof.3	-	1	109	c.12A>T	c.(10-12)aaA>aaT	p.K4N	SUN3_uc003tog.3_Missense_Mutation_p.K4N|SUN3_uc011kcf.2_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	4						integral to membrane		p.K4E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGCCTTTGTTTTTCCACTCA	0.433000														39			5		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227422	35227422	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35227422C>T	uc001bxw.4	+	0	567	c.567C>T	c.(565-567)ttC>ttT	p.F189F	GJB4_uc001bxv.1_Silent_p.F189F	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	189					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCACCTACTTCATGGTGACCA	0.602000														64			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32052303	32052304	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32052303_32052304GG>AA	uc003nzl.2	-	7	3533_3534	c.3331_3332CC>TT	c.(3331-3333)ccc>TTc	p.P1111F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1198	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAGCGCTGGGGTCCTTCCACG	0.614000														598			39		0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5951148	5951148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:5951148C>T	uc001iit.3	+	5	1168	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	FBXO18_uc001iir.3_Missense_Mutation_p.P230L|FBXO18_uc001iis.3_Missense_Mutation_p.P304L|FBXO18_uc009xig.3_Missense_Mutation_p.P230L	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	304					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAGTGCTCTCCGAGTGTGGAT	0.572000														76			5		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603327	101603327	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101603327C>T	uc001thz.4	-	0	690	c.300G>A	c.(298-300)gcG>gcA	p.A100A		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	100					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.A100A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGACCTCCGCGCTGATGA	0.597000														13			3		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981176	981176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:981176C>T	uc001ack.2	+	14	2650	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	867	Laminin EGF-like 2.				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)		GGGCTGTGCTCGTGTAAGCCC	0.662000														103			12		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301836	42301836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42301836C>T	uc002orn.1	+	1	456	c.380C>T	c.(379-381)tCa>tTa	p.S127L	CEACAM3_uc010eia.1_Missense_Mutation_p.S127L|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	127	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GTCATAAAGTCAGATCTTGTG	0.453000														176			26		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031351	21031351	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21031351G>A	uc001bdr.4	-	4	830	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	KIF17_uc001bds.4_Silent_p.L238L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	238	Kinesin-motor.				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)		AGGTCCACCAGGTTCAGCTTG	0.677000														65			8		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136146	233136146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233136146C>T	uc001hvl.2	-	29	5468	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	PCNXL2_uc001hvk.1_Missense_Mutation_p.E397K|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1745						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGAGCAGCTCTTCCTTGTTG	0.602000														79			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38996016	38996016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38996016C>T	uc002oit.3	+	52	8508	c.8378C>T	c.(8377-8379)cCc>cTc	p.P2793L	RYR1_uc002oiu.3_Missense_Mutation_p.P2793L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2793	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)	ATGCTGAGGCCCTACAAGACC	0.552000														19			3		0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30879800	30879800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30879800C>T	uc003nsa.1	+	9	1042	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	GTF2H4_uc010jsf.2_3'UTR|GTF2H4_uc011dmv.1_3'UTR|VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank|VARS2_uc011dna.2_5'Flank|VARS2_uc011dnb.2_5'Flank|VARS2_uc011dnc.2_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	279					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GAGGAAATCTCGGCGTTACTA	0.502000								Nucleotide excision repair (NER)						58			5		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544334	53544334	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53544334C>T	uc001cuv.3	+	7	1464	c.1296C>T	c.(1294-1296)acC>acT	p.T432T	PODN_uc010onr.2_Silent_p.T413T|PODN_uc010ons.2_Silent_p.T290T|PODN_uc001cuw.3_Silent_p.T413T	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	384					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGTGCGCACCCTCATGATCC	0.622000														117			7		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56191482	56191482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56191482C>T	uc002xyo.3	-	1	358	c.77G>A	c.(76-78)gGc>gAc	p.G26D	ZBP1_uc010gjm.3_Missense_Mutation_p.G26D|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.G26D	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	26						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CACCGGGGAGCCAGCCTCTGT	0.577000														91			16		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33932734	33932734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:33932734C>T	uc002hjr.3	+	3	343	c.154C>T	c.(154-156)Cca>Tca	p.P52S	AP2B1_uc002hjq.3_Missense_Mutation_p.P52S|AP2B1_uc010wci.2_Missense_Mutation_p.P52S|AP2B1_uc002hjs.3_5'UTR|AP2B1_uc002hjt.3_Missense_Mutation_p.P52S|AP2B1_uc010ctv.3_Missense_Mutation_p.P52S	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	52					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCTCTCTTTCCAGACGTAGT	0.438000														60			6		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4896785	4896785	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4896785G>A	uc002mbm.3	-	1	399	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	133					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AAGCTTGTACGAAATAGAAGA	0.458000														85			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222521	140222521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140222521G>A	uc003lhs.2	+	0	1615	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D539N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	553	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGACGCGGGCGT	0.672000														137			10		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146686877	146686877	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:146686877C>T	uc003ikn.3	-	11	2922	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	ZNF827_uc003ikm.3_Silent_p.K958K|ZNF827_uc010iox.3_Silent_p.K608K|ZNF827_uc003ikl.3_Silent_p.K43K	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	958					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGCTGGGGGTCTTCCTGTCTT	0.453000														64			4		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157118	14157118	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14157118G>A	uc002mxx.3	+	6	1344	c.921G>A	c.(919-921)gaG>gaA	p.E307E		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	307					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAAGCTGGGAGCCTCTCACCA	0.602000														205			14		0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115306	54115306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:54115306C>T	uc001sef.3	-	5	847	c.703G>A	c.(703-705)Gat>Aat	p.D235N	CALCOCO1_uc010som.2_Missense_Mutation_p.D202N|CALCOCO1_uc010son.2_Missense_Mutation_p.D112N|CALCOCO1_uc009znd.3_Missense_Mutation_p.D235N|CALCOCO1_uc001seg.3_Missense_Mutation_p.D112N|CALCOCO1_uc001seh.2_Missense_Mutation_p.D235N|CALCOCO1_uc010soo.1_Missense_Mutation_p.D228N	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	235					Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGATGTCATCCTCTAGCTCC	0.567000														260			48		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894839	219894839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219894839G>A	uc002vjl.1	-	9	1337	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.P407L|CCDC108_uc010zkq.1_Missense_Mutation_p.P353L	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	418						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTCTCCCGGAAGCACGAT	0.562000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			18		0	0	1	0	0
SPATA25	128497	broad.mit.edu	37	20	44515131	44515131	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44515131A>G	uc002xqf.3	-	2	719	c.710_splice	c.e2+1			NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.							integral to membrane											AAACCACCCTACATATCTGGT	0.537000														220			12		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154225334	154225334	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:154225334T>G	uc004fmt.3	-	2	473	c.302A>C	c.(301-303)gAt>gCt	p.D101A	F8_uc011mzx.1_Missense_Mutation_p.D66A	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	101	F5/8 type A 1.|Plastocyanin-like 1.		D -> G (in HEMA; severe).|D -> H (in HEMA; severe sporadic).|D -> V (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GACCACTGTATCATAAACCTC	0.453000														55			9		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903606	38903606	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38903606G>A	uc021uub.1	-	11	1714	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Silent_p.F431F|RASGRP4_uc021uua.1_Silent_p.F466F|RASGRP4_uc021uuc.1_Silent_p.F408F|RASGRP4_uc021uud.1_Silent_p.F403F|RASGRP4_uc021uue.1_Silent_p.F311F|RASGRP4_uc021uuf.1_Silent_p.F486F	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	500	EF-hand.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATGGCAGGCGAAGGGAAAAT	0.567000														74			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279786	152279786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152279786C>T	uc001ezu.1	-	2	7612	c.7576G>A	c.(7576-7578)Ggc>Agc	p.G2526S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2526	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)			TGCCTGGAGCCGTCTCCTGAT	0.602000									Ichthyosis					256			42		0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387045	150387045	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150387045G>A	uc003qns.3	-	1	423	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Silent_p.F65F	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	114	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CACTGGGTGTGAAATCCTCCA	0.542000														81			5		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35833970	35833970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:35833970G>A	uc011axy.2	+	17	2344	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	ARPP21_uc003cga.3_Missense_Mutation_p.G691E|ARPP21_uc003cgb.3_Missense_Mutation_p.G710E|ARPP21_uc003cgf.3_Missense_Mutation_p.G546E|ARPP21_uc003cgg.3_Missense_Mutation_p.G233E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	710	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCAACAAGGAACTCCGGTG	0.463000														19			6		0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640287	106640287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:106640287C>T	uc003hxz.4	+	2	569	c.497C>T	c.(496-498)tCt>tTt	p.S166F	GSTCD_uc003hxx.2_Missense_Mutation_p.S166F|GSTCD_uc003hxy.4_Missense_Mutation_p.S79F|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Missense_Mutation_p.S166F	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	166	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGAGAATCTTCTGACCAGCCC	0.408000														32			7		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1098761	1098761	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1098761C>T	uc001lsx.1	+	38	7146	c.7119C>T	c.(7117-7119)gcC>gcT	p.A2373A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4739						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTACGCAGCCCTCTGTGCCC	0.662000														6			3		0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78146285	78146285	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:78146285G>A	uc001xuc.1	-	3	493	c.484C>T	c.(484-486)Cga>Tga	p.R162*		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	162					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R162R(2)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AGTAAACTTCGGGGTCTCCGT	0.403000														36			6		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497722	28497722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28497722G>A	uc002dpo.3	-	7	946	c.623C>T	c.(622-624)tCc>tTc	p.S208F	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.S130F|CLN3_uc002dpm.3_Missense_Mutation_p.S154F|CLN3_uc010vcu.2_Missense_Mutation_p.S108F|CLN3_uc010vcv.2_Missense_Mutation_p.S184F|CLN3_uc002dpp.3_Missense_Mutation_p.S208F|CLN3_uc021tfs.1_Intron|CLN3_uc002dpt.1_Missense_Mutation_p.S108F|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.S208F|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.S154F|CLN3_uc002dqa.2_Missense_Mutation_p.S259F|CLN3_uc010vcx.1_Missense_Mutation_p.S108F|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_Non-coding_Transcript	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	208					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CTGCTGAGGGGAGAGGCCGGC	0.682000														48			8		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24881283	24881283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:24881283C>T	uc002dmu.3	+	3	500	c.269C>T	c.(268-270)tCa>tTa	p.S90L	SLC5A11_uc002dms.3_Missense_Mutation_p.S26L|SLC5A11_uc010vcd.2_Missense_Mutation_p.S90L|SLC5A11_uc002dmt.3_Missense_Mutation_p.S26L|SLC5A11_uc010vce.2_Intron|SLC5A11_uc010bxt.3_Missense_Mutation_p.S26L	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	90					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGGCAGGGTCAGGTGCTGCT	0.468000														62			6		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155156339	155156339	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155156339C>T	uc001fhs.1	+	9	2036	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Silent_p.F525F|TRIM46_uc001fhu.1_Silent_p.F628F|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	651	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCACCCTTCGCTTTCCTAA	0.647000														89			6		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610586	8610586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8610586G>A	uc002mkg.3	-	12	1442	c.1304C>T	c.(1303-1305)cCa>cTa	p.P435L		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	435	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTACTGGATTGGAGTCCAGCG	0.577000														238			20		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578896	9578896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9578896C>T	uc002mlp.1	-	9	937	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ZNF560_uc010dwr.1_Missense_Mutation_p.E137K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAATACATTCAGACGTGTTG	0.388000														23			5		0	0	1	0	0
TMEM179	388021	broad.mit.edu	37	14	105063332	105063332	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105063332G>A	uc001yox.1	-	1	457	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_207379	NP_997262	Q6ZVK1	T179A_HUMAN	Homo sapiens transmembrane protein 179 (TMEM179), mRNA.	146						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		CGCACCTGTGGGGTACGGTGC	0.657000														34			5		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164719	139164719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139164719C>T	uc003yuy.3	-	12	2170	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	FAM135B_uc003yux.3_Missense_Mutation_p.E568K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E229K|FAM135B_uc003yvb.3_Missense_Mutation_p.E229K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	667										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)			GAGAGTTCCTCCTGCTCTTCT	0.517000										HNSCC(54;0.14)				60			5		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418357	8418357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:8418357G>A	uc001ape.3	-	20	5048	c.4238C>T	c.(4237-4239)cCc>cTc	p.P1413L	RERE_uc001apf.3_Missense_Mutation_p.P1413L|RERE_uc001apd.3_Missense_Mutation_p.P859L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1413					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1413P(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCGGGCCAGGGGATCGCTGGT	0.652000														35			10		0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183455	1183455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1183455G>A	uc002fsi.1	+	0	499	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	54					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTGGATCTGGAGCAGAACAG	0.637000														68			6		0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100904148	100904148	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:100904148G>A	uc001kpn.2	-	2	530	c.457C>T	c.(457-459)Cga>Tga	p.R153*	HPSE2_uc009xwc.2_Nonsense_Mutation_p.R153*|HPSE2_uc001kpo.2_Nonsense_Mutation_p.R153*|HPSE2_uc009xwd.2_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	153					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	p.R153Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACATCACTTCGAACAATGTCT	0.403000														36			5		0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091297	30091297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:30091297G>A	uc001uso.3	-	10	2048	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	554					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGAGCTTGGTCTTGCTCTC	0.642000														15			4		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72921689	72921689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72921689G>A	uc010wrp.2	+	2	444	c.352G>A	c.(352-354)Gat>Aat	p.D118N	USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Missense_Mutation_p.D118N	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	118						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCATCATGGATGTCTTCAA	0.557000														125			6		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562682	179562682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179562682G>A	uc010pnp.2	+	2	838	c.320G>A	c.(319-321)gGa>gAa	p.G107E	TDRD5_uc021pfm.1_Missense_Mutation_p.G107E|TDRD5_uc001gnf.2_Missense_Mutation_p.G107E|TDRD5_uc021pfn.1_Missense_Mutation_p.G107E	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	107					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.K106N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGCATAAGGGAAGACCTAGT	0.458000														36			14		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79579741	79579741	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79579741G>A	uc001jzk.3	-	15	3508	c.3438C>T	c.(3436-3438)tcC>tcT	p.S1146S	DLG5_uc001jzi.3_5'UTR|DLG5_uc001jzj.3_Silent_p.S561S|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.S750S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1146					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAGCTCCGGGGAGAGTTCTC	0.622000														89			4		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13858217	13858217	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:13858217G>T	uc010gcf.3	-	10	1057	c.975C>A	c.(973-975)ttC>ttA	p.F325L	SEL1L2_uc002woq.4_Missense_Mutation_p.F186L|SEL1L2_uc010zrl.2_Missense_Mutation_p.F325L|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	325						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTGCCTTTAAGAAGTAGTGTA	0.338000														30			5		3.59834e-05	3.63868e-05	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17086957	17086957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17086957G>A	uc002nfb.3	-	15	1936	c.1904C>T	c.(1903-1905)tCa>tTa	p.S635L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	588						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						ATACGTCACTGAAACCTTGGC	0.562000														36			9		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98810890	98810890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98810890G>A	uc002syo.3	+	11	1936	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	VWA3B_uc010yvh.2_Missense_Mutation_p.E408K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E77K|VWA3B_uc002sym.3_Missense_Mutation_p.E558K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E215K|VWA3B_uc002syp.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	558	VWFA.							p.R557L(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTGGCGGGAACAACTTGC	0.383000														202			7		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366681	79366681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79366681C>T	uc003hlb.2	+	41	6111	c.5671C>T	c.(5671-5673)Cgt>Tgt	p.R1891C	FRAS1_uc003hkw.3_Missense_Mutation_p.R1891C|FRAS1_uc010ijj.2_Missense_Mutation_p.R311C	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1890					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGGTGATCGTTTTGGCCC	0.393000														34			5		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29644278	29644278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:29644278C>T	uc001bru.3	+	25	3691	c.3562C>T	c.(3562-3564)Ccg>Tcg	p.P1188S	PTPRU_uc009vtq.3_Missense_Mutation_p.P1184S|PTPRU_uc009vtr.3_Missense_Mutation_p.P1175S|PTPRU_uc001brw.3_Missense_Mutation_p.P1178S|PTPRU_uc001brx.3_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1188	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCGGTCACCCCGCCGCTGGA	0.667000														55			18		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19494939	19494939	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19494939C>T	uc011aha.2	+	11	1029	c.951C>T	c.(949-951)tcC>tcT	p.S317S	CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Silent_p.S280S|CDC45_uc002zpr.3_Silent_p.S285S|CDC45_uc002zpt.3_Silent_p.S239S	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	285					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGCACTGGTCCCTCCATGACA	0.607000														103			21		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699339	60699339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60699339C>T	uc001nqi.3	+	5	1391	c.1198C>T	c.(1198-1200)Ctt>Ttt	p.L400F	TMEM132A_uc001nqj.3_Missense_Mutation_p.L399F|TMEM132A_uc001nqk.3_Missense_Mutation_p.L412F|TMEM132A_uc001nql.1_Missense_Mutation_p.L412F	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	399						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCAGAGCCCTTATCCCACT	0.627000														78			11		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176655	8176655	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8176655C>T	uc002mjf.3	-	31	3979	c.3962_splice	c.e31-1	p.D1321_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1321	EGF-like 20; 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						TCATCCAGGTCTGCAGGAGAT	0.637000														58			10		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123657239	123657239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123657239C>T	uc010nqy.3	-	16	3072	c.3008G>A	c.(3007-3009)aGg>aAg	p.R1003K	ODZ1_uc011muj.2_Missense_Mutation_p.R1002K|ODZ1_uc004euj.3_Missense_Mutation_p.R1003K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1003					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AATAGTTCCCCTCTCTGGACA	0.438000														17			4		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46916759	46916759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46916759C>T	uc001ndn.4	-	10	1510	c.1267G>A	c.(1267-1269)Ggc>Agc	p.G423S		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	423	EGF-like 2; calcium-binding (Potential).				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTTCATAGCCTGTTTCACAC	0.612000														66			4		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398520	57398520	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57398520T>A	uc001sml.2	-	1	335	c.182A>T	c.(181-183)aAt>aTt	p.N61I	ZBTB39_uc021qzg.1_Missense_Mutation_p.N61I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	61	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AAGCCCAGTATTCAGGAAGAG	0.552000														128			18		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68961554	68961554	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:68961554C>T	uc002ewi.4	+	12	2223	c.2211C>T	c.(2209-2211)atC>atT	p.I737I		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	737						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		ATCCGGTCATCCAAGAACTCG	0.468000														89			8		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4925047	4925047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4925047C>T	uc002cyb.3	+	14	2975	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F	UBN1_uc010uxw.2_Missense_Mutation_p.S879F|UBN1_uc002cyc.3_Missense_Mutation_p.S879F	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	879	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCAGCCTCGTCCTCTTCTGCC	0.572000														79			8		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138213864	138213864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138213864G>A	uc003esl.3	-	17	1985	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	CEP70_uc011bmk.2_Missense_Mutation_p.S576L|CEP70_uc011bml.2_Missense_Mutation_p.S578L|CEP70_uc011bmm.2_Missense_Mutation_p.S444L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	596					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTTCAGTATGAAAGTACTTT	0.264000														134			13		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40474489	40474489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40474489C>T	uc002hzl.1	-	20	2152	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	STAT3_uc002hzk.1_Missense_Mutation_p.E638K|STAT3_uc002hzm.1_Missense_Mutation_p.E638K|STAT3_uc010wgh.1_Missense_Mutation_p.E540K|STAT3_uc002hzn.1_Missense_Mutation_p.E638K	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	638	SH2.				JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GTGTATGGTTCCACGGACTGG	0.453000									Hyperimmunoglobulin E Recurrent Infection Syndrome					163			14		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921218	60921218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60921218G>A	uc002ycq.3	-	9	1403	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	LAMA5_uc021wfw.1_Nonsense_Mutation_p.R446*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	446	Laminin EGF-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTAGCATCGACCCGTCAGG	0.657000														31			6		0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72553947	72553947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72553947G>A	uc002auc.3	-	7	956	c.497C>T	c.(496-498)aCc>aTc	p.T166I	PARP6_uc002aua.3_Missense_Mutation_p.T31I|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.T166I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	166							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTTCTTGATGGTACCACTTGC	0.478000														171			50		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67515549	67515549	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:67515549C>T	uc002jij.3	+	4	630	c.342C>T	c.(340-342)acC>acT	p.T114T	MAP2K6_uc002jii.3_Silent_p.T114T|MAP2K6_uc002jik.3_Silent_p.T144T	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	114	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|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			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TCACTGTCACCTTTTATGGCG	0.443000														101			6		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15517241	15517241	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:15517241A>T	uc002gor.1	-	8	2044	c.1707T>A	c.(1705-1707)gtT>gtA	p.V569V	CDRT1_uc002gov.4_Silent_p.V259V			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	259										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CATCCAGGTCAACCAATAGAT	0.468000														101			14		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348104	155348104	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155348104G>A	uc009wqq.3	-	9	6795	c.6315C>T	c.(6313-6315)acC>acT	p.T2105T	ASH1L_uc001fkt.3_Silent_p.T2100T	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2105	AWS.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGCCCTTCCTGGTGTCATCAT	0.418000														199			19		0	0	1	0	0
C11orf74	119710	broad.mit.edu	37	11	36669621	36669621	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36669621C>T	uc001mwy.1	+	4	487	c.414C>T	c.(412-414)tcC>tcT	p.S138S	C11orf74_uc001mwx.1_Non-coding_Transcript|C11orf74_uc001mwz.1_Silent_p.S64S|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.	138										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GCATTCCTTCCTGTATCCCTT	0.478000														24			3		0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167381364	167381364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167381364C>T	uc001gec.3	+	14	1894	c.1655C>T	c.(1654-1656)cCt>cTt	p.P552L	POU2F1_uc001gee.3_Missense_Mutation_p.P575L|POU2F1_uc010plh.2_Missense_Mutation_p.P512L|POU2F1_uc001ged.3_Missense_Mutation_p.P550L|POU2F1_uc001gef.3_Missense_Mutation_p.P564L|POU2F1_uc001geg.3_Missense_Mutation_p.P450L|POU2F1_uc009wvg.1_Non-coding_Transcript	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	552					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACCTCCACTCCTTTGTCCTCC	0.602000														23			8		0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160589593	160589593	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160589593C>T	uc001fwl.4	-	4	1183	c.837G>A	c.(835-837)acG>acA	p.T279T	SLAMF1_uc010pjk.2_Intron|SLAMF1_uc010pjl.2_Intron|SLAMF1_uc010pjm.2_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	279					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.T279K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGCATAGATCGTAAGGCTTT	0.443000														28			8		0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119060201	119060201	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:119060201G>A	uc001pwb.3	+	8	2240	c.1716G>A	c.(1714-1716)taG>taA	p.*572*	PDZD3_uc001pvz.3_Silent_p.*506*|PDZD3_uc010rzd.2_Silent_p.*493*|PDZD3_uc001pvy.3_Silent_p.*492*|PDZD3_uc001pwa.3_Silent_p.*202*			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	0					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		ATCTACTGTAGAGCACCCCTG	0.562000														97			12		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123087242	123087242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123087242C>T	uc001ucv.3	+	45	4943	c.4780C>T	c.(4780-4782)Cac>Tac	p.H1594Y	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1594					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGCCTTTTCACCTGATATT	0.363000														42			7		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17976544	17976544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17976544C>T	uc010gqw.1	+	1	205	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	111					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTGCCTCTTCGCACACGGGT	0.542000														88			11		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7240682	7240682	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7240682G>A	uc002ggd.2	+	1	311	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	35	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGACCCGTCTGGAAAAGGTGA	0.557000														68			7		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586356	15586356	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15586356G>A	uc002nbg.3	-	1	1258	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	PGLYRP2_uc002nbf.4_Silent_p.A375A	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	375					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CACCCAGGAAGGCCTCAGTGA	0.557000														153			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101837	21101837	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:21101837C>T	uc001iqi.3	-	23	2776	c.2379G>A	c.(2377-2379)aaG>aaA	p.K793K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.K130K|NEBL_uc021pnu.1_Silent_p.K130K	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	793					regulation of actin filament length		actin binding|structural constituent of muscle			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						AGCCTCTCCCCTTTGTTTTTT	0.423000														11			3		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949149	37949149	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37949149T>G	uc002hsu.3	-	3	263	c.201A>C	c.(199-201)agA>agC	p.R67S	IKZF3_uc002htd.3_Missense_Mutation_p.R33S|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Missense_Mutation_p.R33S|IKZF3_uc010cwe.3_Missense_Mutation_p.R67S|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Missense_Mutation_p.R67S|IKZF3_uc002hsx.3_Missense_Mutation_p.R67S|IKZF3_uc002hsy.3_Missense_Mutation_p.R67S|IKZF3_uc002hsz.3_Missense_Mutation_p.R67S|IKZF3_uc002hta.3_Missense_Mutation_p.R67S|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	67					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATTCTCATCTCTTTCACTGT	0.348000														27			3		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182616020	182616020	+	Silent	SNP	C	T	T	rs147293552		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182616020C>T	uc010pnw.1	-	6	651	c.393G>A	c.(391-393)acG>acA	p.T131T	RGS8_uc001gpn.1_Silent_p.T131T|RGS8_uc001gpm.1_Silent_p.T149T	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	131	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.T149T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGTTCTTCCTCGTGGCTTCTC	0.527000														98			9		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964903	119964903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:119964903C>T	uc001ehs.3	+	2	1552	c.779C>T	c.(778-780)cCt>cTt	p.P260L	HSD3B2_uc021ost.1_Missense_Mutation_p.P260L|HSD3B2_uc001eht.3_Missense_Mutation_p.P260L|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	260					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.T259M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GATGACACGCCTCACCAAAGC	0.512000														8			3		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34059748	34059748	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:34059748G>A	uc003oir.4	-	1	1011	c.648C>T	c.(646-648)ctC>ctT	p.L216L	GRM4_uc011dsn.2_Silent_p.L216L|GRM4_uc010jvh.3_Silent_p.L216L|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Silent_p.L135L|GRM4_uc011dsl.2_Silent_p.L76L|GRM4_uc003oiq.3_Silent_p.L83L|GRM4_uc011dsm.2_Silent_p.L47L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	216					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGTTCCACTTGAGGGCACGGA	0.617000														41			5		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418631	13418631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13418631C>T	uc002mwy.3	-	14	2187	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	CACNA1A_uc010dzc.2_Missense_Mutation_p.D177N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D651N|CACNA1A_uc021ups.1_Missense_Mutation_p.D651N|CACNA1A_uc010xne.2_Missense_Mutation_p.D651N|CACNA1A_uc010dze.2_Missense_Mutation_p.D651N|CACNA1A_uc021upt.1_Missense_Mutation_p.D652N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	652					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAAAAGTATCGAAGTTGGTG	0.557000														94			16		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179188	55179188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55179188G>A	uc002qgp.3	+	10	1506	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	LILRB4_uc002qgq.3_Missense_Mutation_p.E381K|LILRB4_uc010ert.3_Missense_Mutation_p.E423K|LILRB4_uc010eru.3_Missense_Mutation_p.E412K	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.	382						integral to membrane|plasma membrane	antigen binding|receptor activity			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)		ACTGTCTGGGGAATTCCTGGA	0.592000														24			4		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812843	2812843	+	Missense_Mutation	SNP	C	T	T	rs142703288		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2812843C>T	uc002crk.3	+	10	2863	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	SRRM2_uc002crj.1_Missense_Mutation_p.R676C|SRRM2_uc002crl.1_Missense_Mutation_p.R772C|SRRM2_uc010bsu.1_Missense_Mutation_p.R676C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	772	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						AGCAAAATCTCGCTTGTCTTT	0.512000														201			15		0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58288049	58288049	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:58288049C>T	uc002ene.3	+	2	455	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	CCDC113_uc010vid.2_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	126						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GGAACGCGACCTGCAGCATCA	0.557000														78			7		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144354782	144354782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:144354782C>T	uc003ijd.3	+	2	865	c.506C>T	c.(505-507)cCa>cTa	p.P169L	GAB1_uc003ije.3_Missense_Mutation_p.P169L|GAB1_uc011chq.2_Missense_Mutation_p.P66L	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	169					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AATGTTCCACCACACCTGGAA	0.453000														28			9		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559468	20559468	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20559468C>T	uc002dhj.4	-	8	1224	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	ACSM2B_uc002dhk.4_Silent_p.G338G|ACSM2B_uc010bwf.1_Silent_p.G338G	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.	338					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G338R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAAGGGACTCCCCTCCAGCGA	0.532000														62			14		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44877835	44877835	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44877835C>T	uc001clv.1	+	1	426	c.66C>T	c.(64-66)tcC>tcT	p.S22S	RNF220_uc001clw.1_Silent_p.S22S	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	22					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCTGGCATCCCCAGCACTGA	0.572000														77			15		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866504	139866504	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:139866504G>A	uc004fbg.1	-	0	220	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	10	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACGTCTTCCAGAAAATCCACG	0.428000														34			5		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129120694	129120694	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129120694C>T	uc003emg.3	-	9	1624	c.1461_splice	c.e9-1	p.R487_splice	RPL32P3_uc003ema.3_5'Flank|RPL32P3_uc003emb.3_5'Flank|RPL32P3_uc003emd.1_5'Flank	NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						CCTTCAGCTTCCTGGAAAACA	0.537000														15			4		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33154504	33154504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:33154504C>T	uc003ocx.1	-	4	926	c.698G>A	c.(697-699)aGg>aAg	p.R233K	COL11A2_uc003ocy.1_Missense_Mutation_p.R233K|COL11A2_uc003ocz.1_Missense_Mutation_p.R233K|COL11A2_uc003oda.3_Missense_Mutation_p.R233K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	233	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTCTTTCCCTCTGGCCCCC	0.562000														118			35		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96917830	96917830	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96917830C>T	uc001yfn.2	+	9	1065	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	341					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTTAATATTCGATGGGCTGC	0.393000														43			5		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75403355	75403355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:75403355G>A	uc004aiz.1	+	13	1525	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	TMC1_uc010moz.1_Missense_Mutation_p.E287K|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.E183K|TMC1_uc010mpa.1_Missense_Mutation_p.E183K	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	329					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CGGCAATCCTGAAACAGCAGA	0.393000														25			4		0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102799291	102799291	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102799291C>T	uc010qpx.2	+	10	1099	c.939C>T	c.(937-939)atC>atT	p.I313I	SFXN3_uc001ksp.3_Silent_p.I309I	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	Homo sapiens sideroflexin 3 (SFXN3), mRNA.	309					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GAGCTCAGATCCATGAGCAAA	0.537000														116			7		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55072914	55072914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55072914C>T	uc001cxm.2	+	13	1654	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	ACOT11_uc001cxj.2_Missense_Mutation_p.S371L|ACOT11_uc001cxl.2_Missense_Mutation_p.S493L	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	493	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.A492D(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ATCCTGGCCTCGAGGCGGAAG	0.627000														45			12		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74387427	74387427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74387427G>A	uc002jrm.4	-	17	3541	c.3476C>T	c.(3475-3477)cCc>cTc	p.P1159L	UBE2O_uc002jrl.4_Missense_Mutation_p.P763L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	1159							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CACCCCGTTGGGCAGTGCCTG	0.642000														39			10		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75182875	75182875	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:75182875G>A	uc003uds.2	-	21	2217	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A	HIP1_uc011kfz.2_Silent_p.A724A	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	724					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						ACTGCTTACAGGCCTCGGTCA	0.562000			T	PDGFRB	CMML									36			9		0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164531	85164531	+	Missense_Mutation	SNP	G	A	A	rs144452460		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:85164531G>A	uc002bkr.3	+	2	1331	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	ZSCAN2_uc010bmz.1_Missense_Mutation_p.E367K|ZSCAN2_uc010bna.3_Missense_Mutation_p.E219K|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	369					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E369K(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGAATGCGGCGAAAGCTTTAG	0.502000														102			8		0	0	1	0	0
FAM113A	64773	broad.mit.edu	37	20	2816862	2816862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2816862G>A	uc002wgz.1	-	6	1437	c.940C>T	c.(940-942)Cca>Tca	p.P314S	FAM113A_uc010zqa.1_Missense_Mutation_p.P161S|FAM113A_uc002whc.1_Missense_Mutation_p.P263S	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	314	Poly-Pro.						hydrolase activity|protein binding	p.P313P(1)		breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						gaagaaggtgggggtgggagc	0.602000														94			5		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149419	41149419	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:41149419C>T	uc003jmk.2	-	16	2757	c.2547G>A	c.(2545-2547)agG>agA	p.R849R	C6_uc003jml.1_Silent_p.R849R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	849	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R849R(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGTCTTGTCCTTTCAAGAC	0.418000														9			4		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823255	38823255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38823255C>T	uc003avs.1	-	1	980	c.883G>A	c.(883-885)Gag>Aag	p.E295K	KCNJ4_uc003avt.1_Missense_Mutation_p.E295K|KCNJ4_uc021wpp.1_Missense_Mutation_p.E295K	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	295					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCGTGGCCTCCACCATGCCC	0.627000														36			8		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79403901	79403901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:79403901G>A	uc001diq.4	-	4	616	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	154					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTTGGTGAAAGATCTGTCACA	0.338000														17			7		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303708	11303708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11303708G>A	uc002mqm.3	-	1	1127	c.1048C>T	c.(1048-1050)Ccc>Tcc	p.P350S	KANK2_uc021upe.1_Missense_Mutation_p.P350S|KANK2_uc002mqo.4_Missense_Mutation_p.P350S|KANK2_uc002mqp.1_Missense_Mutation_p.P159S|KANK2_uc002mqq.3_Missense_Mutation_p.P350S	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	350										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGCTGTGCGGGGGCGCCAGCG	0.716000														20			4		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53630442	53630442	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:53630442G>A	uc004dsp.3	-	26	3165	c.2763C>T	c.(2761-2763)tcC>tcT	p.S921S		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	921					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGGTTTACGGAGATGGAAC	0.418000														7			4		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228886515C>T	uc002vpq.2	-	5	656	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_uc002vpp.2_Silent_p.T203T|SPHKAP_uc010zlx.1_Silent_p.T203T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	203						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGAACAGTTCGTGTCATCCT	0.463000														41			5		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70154551	70154551	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70154551C>T	uc002eyf.1	+	2	1113	c.156C>T	c.(154-156)atC>atT	p.I52I	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	52					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAGGTGGAATCACGGGCACTT	0.572000														60			6		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188271	32188271	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32188271T>G	uc003obb.3	-	5	1209	c.1070A>C	c.(1069-1071)gAt>gCt	p.D357A	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.D357A	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AATACAGTCATCCAGGTTCTC	0.612000														281			17		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333050	42333050	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42333050G>A	uc002igf.4	-	13	1940	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	597	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGCCAGGGAAATAGGAGC	0.587000														75			4		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12908038C>T	uc010obf.2	-	1	331	c.105G>A	c.(103-105)gcG>gcA	p.A35A	LOC649330_uc009vno.2_Silent_p.A35A	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	35							nucleic acid binding|nucleotide binding	p.A35A(1)									TGGAAAAGATCGCCTCCACAT	0.473000														76			4		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097990	9097990	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9097990T>C	uc001apo.3	-	10	1560	c.1268A>G	c.(1267-1269)aAc>aGc	p.N423S	SLC2A5_uc010nzy.2_Missense_Mutation_p.N364S|SLC2A5_uc010nzz.2_Missense_Mutation_p.N308S|SLC2A5_uc010oaa.2_Missense_Mutation_p.N379S	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	423					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			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)		CACGGTGAAGTTGGAGAGCCA	0.632000														37			14		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521269	36521269	+	Missense_Mutation	SNP	C	T	T	rs145376452		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36521269C>T	uc002hqa.3	+	3	1158	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	SOCS7_uc010cvl.3_Intron|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	346	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CCCCTACCTCCGCCTCCTCCA	0.498000														50			9		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521504	125521504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125521504G>A	uc001lhk.1	-	10	1986	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	554					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGAGGCATAGGAGTAGGCCAG	0.662000														57			5		0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478095	79478095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79478095G>A	uc002kak.2	-	4	1100	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.S281F|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	281					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTCATGATGGAGTTGAAGGT	0.562000														88			35		0	0	1	0	0
FAM210A	125228	broad.mit.edu	37	18	13666501	13666501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:13666501G>A	uc010dlh.3	-	4	1229	c.797C>T	c.(796-798)tCc>tTc	p.S266F	FAM210A_uc010dlg.3_3'UTR|FAM210A_uc010dli.3_Missense_Mutation_p.S266F|FAM210A_uc002ksj.4_Missense_Mutation_p.S266F|FAM210A_uc010dlj.3_Non-coding_Transcript	NM_001098801	NP_689565	Q96ND0	CR019_HUMAN	Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA.	266						integral to membrane											TTTCTTAAAGGAAACTTTTTC	0.358000														25			5		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738354	110738354	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110738354T>G	uc009wfq.3	+	9	2100	c.1639T>G	c.(1639-1641)Tat>Gat	p.Y547D		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	547					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			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)		GGCCTGGATTTATGGAACCAA	0.522000														44			3		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32841979	32841979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32841979C>T	uc003amn.2	-	3	379	c.379G>A	c.(379-381)Gac>Aac	p.D127N	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_Intron	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	127						extracellular region	lipopolysaccharide binding|phospholipid binding										CCTCCTGTGTCTTGGCTGTTT	0.478000														44			8		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434098	9434098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:9434098G>A	uc021wam.1	+	28	2964	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	PLCB4_uc010gbw.1_Missense_Mutation_p.M983I|PLCB4_uc010gbx.3_Missense_Mutation_p.M995I|PLCB4_uc021wal.1_Missense_Mutation_p.M983I|PLCB4_uc002wnh.3_Missense_Mutation_p.M830I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	983					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						AGAAGGCAATGAAGAAGAAGG	0.388000														7			4		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993313	38993313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38993313C>T	uc002oit.3	+	47	7911	c.7781C>T	c.(7780-7782)tCg>tTg	p.S2594L	RYR1_uc002oiu.3_Missense_Mutation_p.S2594L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2594	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	p.R2593H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGGGTCGTTCGCTCACCAAG	0.652000														37			8		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103593877	103593877	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:103593877C>T	uc001ymm.1	+	1	902	c.771C>T	c.(769-771)ttC>ttT	p.F257F	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_5'UTR	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	257					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			ACCAGCACTTCGCGGCCCACC	0.677000														17			4		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219538	126219538	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126219538C>T	uc010hsi.2	-	12	1379	c.1325_splice	c.e12+1	p.S442_splice	UROC1_uc003eiz.2_Splice_Site_p.S382_splice	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	382					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CAAGTAGCACCTTTCCTGGAC	0.602000														85			7		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65978611	65978611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65978611C>T	uc001oha.2	+	3	675	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	PACS1_uc001ogz.1_Missense_Mutation_p.H181Y	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	181				Missing (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTAGTACCCTCATTTCCTTAA	0.488000														186			19		0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46425736	46425736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:46425736G>A	uc001vap.3	-	0	111	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	10					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ATCTAATACAGCCCCAAAGCA	0.537000														37			5		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52874275	52874275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52874275G>A	uc003pbh.2	-	12	2073	c.1583C>T	c.(1582-1584)tCt>tTt	p.S528F	ICK_uc003pbi.2_Missense_Mutation_p.S528F	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	528					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGTCCCTGAAGATTTTCCAGA	0.413000														34			4		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266316	3266316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3266316G>A	uc010uwv.2	+	0	755	c.607G>A	c.(607-609)Gcc>Acc	p.A203T						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		AAGATGGAAAGCCTTCTCCAC	0.527000														22			4		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142200475	142200475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142200475G>A	uc003yvy.3	+	19	3376	c.3098G>A	c.(3097-3099)gGc>gAc	p.G1033D	DENND3_uc010mep.3_Missense_Mutation_p.G994D|DENND3_uc003ywa.1_Missense_Mutation_p.G83D|DENND3_uc003ywb.3_Missense_Mutation_p.G83D	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1033										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCGAGGTGGCCTGACGTCC	0.647000														43			14		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286736	55286736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55286736G>A	uc010erz.1	+	3	528	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G164R	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	164	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATCCAGGGAAGGGGAGGCCCA	0.612000														110			5		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213024	9213024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9213024C>T	uc010xkk.2	-	0	959	c.959G>A	c.(958-960)gGa>gAa	p.G320E		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CCTCAAGGTTCCTTTCATGTC	0.443000														44			4		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431893	117431893	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:117431893G>A	uc003vjf.3	-	3	1449	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	453	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCATTGCCCTGAAATCTAAAT	0.478000														225			15		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219603031	219603031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219603031C>T	uc002viy.3	+	2	1002	c.632C>T	c.(631-633)tCc>tTc	p.S211F	TTLL4_uc010zkl.1_Missense_Mutation_p.S46F|TTLL4_uc010fvx.3_Missense_Mutation_p.S211F	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	211					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.S210Y(1)		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)		CCACTCTCTTCCTCCTATAAG	0.532000														73			12		0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904461	12904461	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12904461C>T	uc004cvc.3	+	2	973	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	278					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATAATTCTCCCCTACAGATCC	0.398000														32			4		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049962	42049962	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42049962G>A	uc001cgz.4	-	3	1720	c.507C>T	c.(505-507)tcC>tcT	p.S169S	HIVEP3_uc001cha.4_Silent_p.S169S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	169					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGAGACCTGGGAAGGACGAG	0.602000														140			9		0	0	1	0	0
ISCA2	122961	broad.mit.edu	37	14	74961580	74961580	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74961580C>T	uc001xpz.2	+	3	370	c.342C>T	c.(340-342)gcC>gcT	p.A114A	NPC2_uc001xpy.3_5'Flank|NPC2_uc010tus.2_5'Flank	NM_194279	NP_919255	Q86U28	ISCA2_HUMAN	Homo sapiens iron-sulfur cluster assembly 2 homolog (S. cerevisiae) (ISCA2), mRNA.	114					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		ATAGCTTGGCCTTCGTGAAAG	0.498000														64			4		0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60977969	60977969	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:60977969G>A	uc001xfa.4	+	1	919	c.740G>A	c.(739-741)tGa>tAa	p.*247*		NM_007374	NP_031400	O95475	SIX6_HUMAN	Homo sapiens SIX homeobox 6 (SIX6), mRNA.	0					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TGCGACATCTGAGTTGCCCAT	0.562000														69			6		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201750306	201750306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201750306C>T	uc021phi.1	+	4	1879	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	NAV1_uc001gwu.3_Missense_Mutation_p.S511L|NAV1_uc001gwv.1_Missense_Mutation_p.S19L|NAV1_uc001gww.2_Missense_Mutation_p.S120L|NAV1_uc001gwx.3_Missense_Mutation_p.S120L|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	511					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTGATGATTCATCCAAGGGT	0.552000														91			5		0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56874097	56874097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56874097C>T	uc001slj.3	-	1	536	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	GLS2_uc021qzb.1_Missense_Mutation_p.R49Q|GLS2_uc021qzc.1_Non-coding_Transcript|GLS2_uc021qzd.1_5'UTR|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_5'UTR|GLS2_uc009zot.3_5'UTR	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	86					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATAGGGATTCGTTCCTGTCC	0.478000														67			8		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62196998	62196998	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62196998A>T	uc002yfm.2	-	8	4069	c.3177T>A	c.(3175-3177)gcT>gcA	p.A1059A	PRIC285_uc002yfl.1_Silent_p.A490A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1059	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCCAGAAGTCAGCCTCTGCAT	0.672000														41			4		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678772	38678772	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:38678772C>T	uc021rsi.1	+	0	178	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	SSTR1_uc001wul.1_Silent_p.L60L	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	60					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CAGCGCCATCCTGATCTCTTT	0.642000														40			6		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350159	89350159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89350159G>A	uc002fmx.1	-	8	3252	c.2791C>T	c.(2791-2793)Cct>Tct	p.P931S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P931S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P931S|ANKRD11_uc002fnb.1_Missense_Mutation_p.P888S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	931	Lys-rich.					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)		AGGTAGCCAGGGACACTTTTA	0.542000														134			7		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94038411	94038411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94038411G>A	uc001ybv.1	+	11	1479	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	UNC79_uc001ybs.1_Missense_Mutation_p.E466K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	643						integral to membrane		p.E466K(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGTTAAAAGAATTCAGGGA	0.408000														16			5		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15636216	15636217	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15636216_15636217GG>AA	uc002nbh.4	+	2	236_237	c.69_70GG>AA	c.(67-72)gcggtg>gcAAtg	p.V24M		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	24						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCATATACGCGGTGTCCACCCT	0.644000														41			8		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884435	24884435	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24884435C>T	uc001wpf.4	+	8	3798	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1160					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGCCCTTCCGCCTGGAGG	0.647000														56			4		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969055	106969055	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:106969055G>A	uc003prh.3	+	1	3660	c.2748G>A	c.(2746-2748)ttG>ttA	p.L916L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	916							sugar binding	p.L916*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACTCCAGTTTGAAAAGTCCAA	0.423000														58			4		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640229	34640229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34640229C>T	uc010ucc.2	+	2	542	c.160C>T	c.(160-162)Cct>Tct	p.P54S	C15orf55_uc010ucd.2_Missense_Mutation_p.P44S|C15orf55_uc001zif.3_Missense_Mutation_p.P26S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	26	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GTCTCCATCCCCTGCACTTCC	0.532000			T	"""BRD3, BRD4"""	lethal midline carcinoma									55			6		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516517	154516517	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154516517G>A	uc009wow.3	+	8	1420	c.582G>A	c.(580-582)ggG>ggA	p.G194G	TDRD10_uc001ffd.3_Silent_p.G194G|TDRD10_uc001ffe.3_Silent_p.G115G	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	194							RNA binding|nucleotide binding	p.R193L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCGTCCGTGGGGAGGCGGGGC	0.622000														122			17		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35180711	35180711	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:35180711G>A	uc003teq.1	-	10	1386	c.279C>T	c.(277-279)ttC>ttT	p.F93F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ACATCAAAATGAAACTAAGGG	0.264000														11			3		0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658535	210658535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:210658535G>A	uc010zjc.1	+	6	970	c.890G>A	c.(889-891)gGa>gAa	p.G297E	UNC80_uc021vvx.1_Missense_Mutation_p.G297E|UNC80_uc002vdj.1_Missense_Mutation_p.G297E	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	297						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCCTTTGATGGAAGTCTGTCC	0.483000														55			5		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1651891	1651891	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1651891G>A	uc002ftk.1	+	8	793	c.716_splice	c.e8-1	p.G239_splice	SERPINF2_uc010vqr.1_Splice_Site_p.G175_splice|SERPINF2_uc021tnm.1_Splice_Site_p.G239_splice	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	239					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTGGGTTTCAGGTTTCTGGAG	0.632000														91			19		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30793474	30793474	+	Silent	SNP	G	A	A	rs113474959		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30793474G>A	uc003tbs.1	+	1	298	c.282G>A	c.(280-282)ctG>ctA	p.L94L	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.L93L	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	94						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGAGGAGCTGGAAAAGTGGC	0.562000														181			13		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151509334	151509334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151509334G>A	uc010ipj.3	-	40	6473	c.6229C>T	c.(6229-6231)Cct>Tct	p.P2077S	LRBA_uc003ilt.4_Missense_Mutation_p.P725S|LRBA_uc003ilu.4_Missense_Mutation_p.P2066S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2077						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding	p.G2076G(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGCTAACAGGACCTGCCAAA	0.433000														20			5		0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220247935	220247935	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220247935G>A	uc002vle.2	-	10	999	c.853_splice	c.e10-1	p.A285_splice	DNPEP_uc002vli.2_Splice_Site_p.A232_splice|DNPEP_uc010zlg.2_Splice_Site_p.A293_splice	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	275					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ATCTATCAAGGCCTGGTTCAG	0.587000														57			4		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133660	22133660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22133660C>T	uc010tmd.2	+	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCGTATGATCGTTACGTGGC	0.468000														64			5		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087593	47087593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:47087593G>A	uc001jee.3	+	2	1229	c.810G>A	c.(808-810)atG>atA	p.M270I	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.M270I|PPYR1_uc021ppu.1_Missense_Mutation_p.M270I	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	270					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGTGGTGATGGTGGTGGCCT	0.602000														96			5		0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29253878	29253878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:29253878G>A	uc010csk.3	+	2	556	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	ADAP2_uc002hfy.3_Missense_Mutation_p.A87T|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.A87T	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	87	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.V93A(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCGTGTGAAGGCCAAGTTCGA	0.493000														31			5		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2429124	2429124	+	Missense_Mutation	SNP	G	A	A	rs78068524		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2429124G>A	uc010qxl.2	-	18	2810	c.2801C>T	c.(2800-2802)tCc>tTc	p.S934F	TRPM5_uc001lwm.4_Missense_Mutation_p.S934F|TRPM5_uc009ydn.3_Missense_Mutation_p.S936F	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	934						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)		TGGGTGGGTGGAGCAGTTCAC	0.617000														298			55		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127702981	127702981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127702981C>T	uc010hsr.3	+	4	1735	c.1732C>T	c.(1732-1734)Cca>Tca	p.P578S	KBTBD12_uc003ejy.4_Missense_Mutation_p.P185S|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Missense_Mutation_p.P153S	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	578										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGAACTGGACCCATGGGAAAA	0.458000														90			7		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460341	107460341	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107460341G>T	uc002tdq.3	-	1	212	c.93C>A	c.(91-93)acC>acA	p.T31T	ST6GAL2_uc002tdr.3_Silent_p.T31T|ST6GAL2_uc002tds.3_Silent_p.T31T	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	31					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGTTGCTGTCGGTGAAGTAGA	0.572000														55			4		0.150653	0.151351	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45353687	45353687	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45353687C>T	uc002xsl.3	+	1	109	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	4						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TAGGCCACTCCCCACCTGTCC	0.507000														81			5		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288017	74288017	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74288017G>A	uc002jrd.1	-	3	2473	c.2293C>T	c.(2293-2295)Ctg>Ttg	p.L765L	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	765							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGTTGTACCAGGCCATGTGGA	0.532000														158			10		0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134114857	134114857	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:134114857C>T	uc001qhe.3	+	4	1203	c.747C>T	c.(745-747)ttC>ttT	p.F249F		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	249					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCCGGCTCTTCCTGGCCGGGT	0.597000											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			4		0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82033635	82033635	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:82033635A>C	uc001kbw.3	-	8	1345	c.1090T>G	c.(1090-1092)Ttg>Gtg	p.L364V		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	364					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTCAAGTCCAAATCCCTGCAT	0.498000														89			9		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105937	72105937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72105937G>A	uc002ati.3	+	6	1145	c.955G>A	c.(955-957)Gag>Aag	p.E319K	NR2E3_uc002ath.1_Missense_Mutation_p.E319K	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	319					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GACCCCCACGGAGTTTGCCTG	0.607000														40			6		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468065	6468065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6468065G>A	uc002mfe.3	-	22	1948	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	DENND1C_uc002mfb.3_Missense_Mutation_p.S169F|DENND1C_uc002mfc.3_Missense_Mutation_p.S169F|DENND1C_uc002mfd.3_Missense_Mutation_p.S169F|DENND1C_uc010xje.2_Missense_Mutation_p.S575F	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	619						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGATGGCAGGGAAAGGGGCTG	0.537000														38			5		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110970077	110970077	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:110970077C>T	uc011msy.2	+	15	1871	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	ALG13_uc011msx.2_Silent_p.F486F|ALG13_uc011msz.2_Silent_p.F512F|ALG13_uc011mta.2_Silent_p.F486F|ALG13_uc011mtb.2_Silent_p.F486F	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	590					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						AGAAGATGTTCAAGAAAATTC	0.448000														25			15		0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36768293	36768293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:36768293G>A	uc001wtm.2	-	8	1119	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	MBIP_uc001wto.2_Missense_Mutation_p.P343L|MBIP_uc010tpy.1_Missense_Mutation_p.P203L|MBIP_uc001wtn.2_3'UTR	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	344	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AGTTTTTCATGGAAGGTGGTG	0.363000														51			10		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155750012	155750012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155750012C>T	uc003qqm.3	-	8	1164	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	354	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.R354W(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TCCTGCTGCCCGGATGTGCAC	0.617000														60			6		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637053	39637053	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39637053C>T	uc002hws.3	-	0	340	c.297G>A	c.(295-297)gaG>gaA	p.E99E		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	99	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ATTGCATGGTCTCCTTCTCAT	0.642000														53			8		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289618	7289618	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7289618C>T	uc001qss.3	+	5	1696	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CLSTN3_uc001qsr.3_Silent_p.F374F	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	374					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTGACCACTTCACCCTGTCCT	0.592000														53			6		0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61441003	61441003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61441003C>T	uc002ydj.3	+	3	421	c.386C>T	c.(385-387)tCc>tTc	p.S129F	OGFR_uc002ydk.3_Missense_Mutation_p.S112F|OGFR_uc002ydl.3_Missense_Mutation_p.S77F	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	Homo sapiens opioid growth factor receptor (OGFR), mRNA.	129					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GACAATCACTCCTACATCCAG	0.612000														78			18		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442827	39442827	+	Missense_Mutation	SNP	C	T	T	rs150907859	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39442827C>T	uc003xni.3	+	1	143	c.88C>T	c.(88-90)Cca>Tca	p.P30S	ADAM18_uc003xnh.3_Missense_Mutation_p.P30S|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P30S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	30					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGTCACAGTTCCACGGAAGAT	0.343000														19			4		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221700	32221700	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32221700G>A	uc001btn.3	-	3	1092	c.738C>T	c.(736-738)acC>acT	p.T246T	BAI2_uc010ogp.2_Silent_p.T234T|BAI2_uc010ogq.2_Silent_p.T246T|BAI2_uc001bto.3_Silent_p.T246T|BAI2_uc001btq.1_Silent_p.T234T|BAI2_uc010ogr.1_Silent_p.T234T	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	246					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CATTGGACAGGGTGTGGGCAG	0.667000														120			11		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70923464	70923464	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:70923464C>T	uc021vjc.1	-	4	652	c.387G>A	c.(385-387)ggG>ggA	p.G129G	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.G129G|ADD2_uc002sgz.3_Silent_p.G129G|ADD2_uc010fdt.2_Silent_p.G129G|ADD2_uc002shc.2_Silent_p.G129G|ADD2_uc010fdu.2_Silent_p.G145G	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	129					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						TGAGCCGCTCCCCTTTGGCCA	0.592000														32			5		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917235	99917235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:99917235G>A	uc004egb.3	+	3	706	c.226G>A	c.(226-228)Gga>Aga	p.G76R		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	76	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCACCGAAGGGAGGAAATTA	0.507000														44			6		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488517	84488517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84488517G>A	uc010chj.3	+	20	2163	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	ATP2C2_uc002fhx.3_Missense_Mutation_p.G692R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G709R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G541R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	692					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						GATCGCCATGGGGCAGACAGG	0.572000														50			6		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48393715	48393715	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48393715G>A	uc001rqu.3	-	1	460	c.279C>T	c.(277-279)ctC>ctT	p.L93L	COL2A1_uc001rqv.3_Intron	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	93					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.G93A(1)|p.L93L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGCAGTGGCGAGGTCAGTTG	0.498000														73			9		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675609	7675609	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7675609C>T	uc002mgu.4	+	8	1106	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	CAMSAP3_uc002mgv.4_Silent_p.A308A	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	308			P -> S (in dbSNP:rs3745358).		epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGATGCTGGCCGAGTTGTTCA	0.662000														139			9		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758908	55758908	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:55758908G>A	uc010gip.1	-	3	1357	c.828C>T	c.(826-828)ttC>ttT	p.F276F	BMP7_uc002xyc.3_Silent_p.F276F	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	276					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AAGCCACCATGAAGGGCTGCT	0.622000														46			8		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440029	440029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:440029G>A	uc003bot.3	+	24	3856	c.3214G>A	c.(3214-3216)Gat>Aat	p.D1072N	CHL1_uc003bou.3_Missense_Mutation_p.D1056N|CHL1_uc003bow.2_Missense_Mutation_p.D1056N|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1056					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGGCGATAATGATAGCATTTT	0.383000														26			7		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287632	238287632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238287632G>A	uc002vwl.2	-	5	2429	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	COL6A3_uc002vwo.2_Missense_Mutation_p.S509L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.S509L|COL6A3_uc002vwr.3_Missense_Mutation_p.S308L|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	715	Nonhelical region.|VWFA 4.				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)		GTTCAGGCCCGAACCTCCCTG	0.537000														32			6		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72958339	72958339	+	Missense_Mutation	SNP	C	T	T	rs141799560	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72958339C>T	uc002jmj.4	-	4	750	c.601G>A	c.(601-603)Gat>Aat	p.D201N	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.D200N	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	201						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					CGGTTCATATCGTGGATGTAG	0.647000														62			14		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49897117	49897117	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49897117G>A	uc003cxt.1	-	10	1333	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	CAMKV_uc011bcy.1_Silent_p.A305A|CAMKV_uc003cxv.1_Silent_p.A352A|CAMKV_uc003cxw.1_Silent_p.A212A|CAMKV_uc003cxx.1_Silent_p.A212A|CAMKV_uc003cxu.2_Intron|CAMKV_uc011bcz.1_Intron|CAMKV_uc011bda.1_Intron	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	380	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGTCTGCGGGGGCCACATTAT	0.647000														100			10		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64200735	64200735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64200735C>T	uc002amr.3	-	11	1128	c.1097G>A	c.(1096-1098)aGg>aAg	p.R366K	DAPK2_uc010uim.2_Non-coding_Transcript	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	366					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GGTGCTGCTCCTCCTCCGTGG	0.607000														23			4		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150429861	150429861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150429861C>T	uc009wlr.3	+	7	1169	c.968C>T	c.(967-969)tCc>tTc	p.S323F	RPRD2_uc010pcc.1_Missense_Mutation_p.S297F|RPRD2_uc001eup.4_Missense_Mutation_p.S297F	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	323							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCAGTTCCTTCCCCAAGCATG	0.463000														113			8		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974285	128974285	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:128974285C>T	uc001lju.1	-	0	416	c.375G>A	c.(373-375)ggG>ggA	p.G125G	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.G125G|FAM196A_uc001ljv.1_Silent_p.G125G|FAM196A_uc009yap.1_Silent_p.G125G	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	125										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTTTGAGGTTCCCCTTTTTGC	0.542000														38			5		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	142987748	142987748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:142987748G>A	uc003evn.3	-	14	1888	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	560					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGCAGCCTGGAAATCGGACC	0.483000														72			4		0	0	1	0	0
C22orf15	150248	broad.mit.edu	37	22	24106828	24106828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:24106828G>A	uc011aja.2	+	3	539	c.253G>A	c.(253-255)Gga>Aga	p.G85R	C22orf15_uc002zxv.1_3'UTR|C22orf15_uc002zxu.3_Missense_Mutation_p.G90R	NM_182520	NP_872326	Q8WYQ4	CV015_HUMAN	Homo sapiens chromosome 22 open reading frame 15 (C22orf15), mRNA.	85										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				TGTCACAGAGGGAGAGGACAT	0.572000														41			4		0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37268428	37268428	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37268428G>A	uc003apy.4	+	6	772	c.588G>A	c.(586-588)gtG>gtA	p.V196V	NCF4_uc003apz.4_Silent_p.V196V	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	196	SH3.				cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGGAGATGTGATCTTCCTCC	0.473000														83			20		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156348107	156348107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156348107C>T	uc010pho.2	+	3	628	c.590C>T	c.(589-591)tCg>tTg	p.S197L	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.S128L|RHBG_uc009wrz.3_Missense_Mutation_p.S165L|RHBG_uc001for.3_Missense_Mutation_p.S167L	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	197					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.S197S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCGTCCTTTCGCGGGTTCTG	0.627000														133			6		0	0	1	0	0
TMEM41B	440026	broad.mit.edu	37	11	9308057	9308057	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9308057G>A	uc001mhm.3	-	5	978	c.651C>T	c.(649-651)atC>atT	p.I217I	TMEM41B_uc001mhn.2_Silent_p.I217I	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	217						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		CAGGAGATGTGATATTAATAA	0.338000														106			11		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806084	97806084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:97806084C>T	uc011bgs.2	+	0	68	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22*(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACAGATCGACCATGGCTGCAC	0.423000														70			11		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379079	25379079	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25379079C>T	uc003gro.3	+	1	159	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	10					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTTTCCCATCCTTCCGGGTGG	0.632000														36			5		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140108292	140108292	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140108292C>T	uc004clx.3	+	3	483	c.372C>T	c.(370-372)ctC>ctT	p.L124L	NDOR1_uc004clw.3_Silent_p.L124L|NDOR1_uc011mes.2_Silent_p.L124L|NDOR1_uc004cly.3_Silent_p.L124L	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	124	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCGCCCTCCTGCCCGTGT	0.677000														26			5		0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80374244	80374244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:80374244C>T	uc011kgw.2	-	17	2355	c.2276G>A	c.(2275-2277)aGt>aAt	p.S759N	SEMA3C_uc003uhj.3_Missense_Mutation_p.S741N	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	741					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTGTTTCTACTTTTCCGACT	0.403000														20			3		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2434411	2434411	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2434411C>T	uc010qxl.2	-	13	2058	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	TRPM5_uc001lwm.4_Silent_p.L683L|TRPM5_uc009ydn.3_Silent_p.L685L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	683						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)		CCAGGCTGTCCAGGTCCTGCA	0.701000														76			5		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413501	105413501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105413501G>A	uc010axc.1	-	6	8407	c.8287C>T	c.(8287-8289)Ccc>Tcc	p.P2763S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2663S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2763						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGCCTTTCAGG	0.607000														157			34		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791708	110791708	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:110791708C>T	uc003hzx.4	+	2	1861	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	LRIT3_uc003hzw.4_Silent_p.F418F	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	556						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGATTTGTTTCTTGTTGTACA	0.393000														39			6		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251796	47251796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:47251796G>A	uc003oyv.3	-	2	1554	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	374					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CAGAGTCCTCGAGCTTTTCCG	0.517000														66			11		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220458	155220458	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155220458G>A	uc001fjm.3	-	8	1725	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	FAM189B_uc009wql.3_Silent_p.G175G|FAM189B_uc001fjn.3_Silent_p.G277G|FAM189B_uc001fjo.3_Silent_p.G355G|FAM189B_uc001fjp.3_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	373						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGAGGCAGTAGCCGGCACGGC	0.701000														43			4		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298130	123298130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123298130G>A	uc021pzz.1	-	5	1371	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	FGFR2_uc021pzv.1_Missense_Mutation_p.H242Y|FGFR2_uc021pzw.1_Missense_Mutation_p.H127Y|FGFR2_uc021pzx.1_Missense_Mutation_p.H153Y|FGFR2_uc021pzy.1_Missense_Mutation_p.H242Y|FGFR2_uc010qtl.2_Missense_Mutation_p.H242Y|FGFR2_uc010qtm.2_Missense_Mutation_p.H127Y|FGFR2_uc021qaa.1_Missense_Mutation_p.H242Y|FGFR2_uc021qab.1_Missense_Mutation_p.H153Y|FGFR2_uc021qac.1_Missense_Mutation_p.H172Y|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.H261Y|FGFR2_uc010qto.2_Missense_Mutation_p.H146Y|FGFR2_uc001lfo.1_Missense_Mutation_p.H261Y|FGFR2_uc010qtp.2_Missense_Mutation_p.H261Y|FGFR2_uc010qtq.2_Missense_Mutation_p.H261Y	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	242	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGGTACGTGTGATTGATGGAC	0.493000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					18			4		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15709696	15709696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15709696G>A	uc002ddr.3	-	15	3451	c.3244C>T	c.(3244-3246)Ccc>Tcc	p.P1082S	KIAA0430_uc002ddq.3_Missense_Mutation_p.P916S|KIAA0430_uc010uzv.2_Missense_Mutation_p.P1079S|KIAA0430_uc010uzw.2_Missense_Mutation_p.P1082S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1081						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAGTGTTGGGAGGCGGGGGC	0.463000														76			8		0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876768	39876768	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39876768C>T	uc009vvt.1	+	0	1593	c.831C>T	c.(829-831)ccC>ccT	p.P277P	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.	141										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)			AGCAGCACCCCCTTGGGGACA	0.522000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			4		0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49119053	49119053	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:49119053G>A	uc010omx.1	-	7	989	c.831C>T	c.(829-831)atC>atT	p.I277I	AGBL4_uc001cru.2_Silent_p.I265I|AGBL4_uc010omw.1_5'UTR|AGBL4_uc010omy.1_Silent_p.I88I|AGBL4_uc001crv.1_Silent_p.I118I	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	265					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.I265I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GCATTGGTGCGATCTTGAAGA	0.473000														4			3		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168416	49168416	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49168416G>A	uc003cwe.3	-	6	1181	c.882C>T	c.(880-882)ccC>ccT	p.P294P	LAMB2_uc003cwf.1_Silent_p.P294P	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	294	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.P294P(2)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCTGGGGCGGGTGCACACT	0.612000														79			4		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016166	27016166	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:27016166G>A	uc001mrd.3	+	0	539	c.93G>A	c.(91-93)ggG>ggA	p.G31G		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	31						Golgi apparatus|extracellular region		p.G31G(2)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGTCCAATGGGACTCTGCACC	0.542000														41			7		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054470	76054470	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76054470G>A	uc003ufd.4	+	0	199	c.189G>A	c.(187-189)ggG>ggA	p.G63G	ZP3_uc003ufc.4_Silent_p.G12G	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	63	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TTGGCACCGGGAAGCTCATCA	0.587000														23			4		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263298	65263298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65263298C>T	uc001xht.3	-	9	1369	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	SPTB_uc001xhr.3_Missense_Mutation_p.E440K|SPTB_uc001xhs.3_Missense_Mutation_p.E440K|SPTB_uc001xhu.3_Missense_Mutation_p.E440K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	440					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGCTGGTTTTCACTGAGCCAG	0.602000														58			7		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21239331	21239331	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21239331G>A	uc002red.3	-	20	3440	c.3312C>T	c.(3310-3312)gtC>gtT	p.V1104V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1104					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCATGAGGGCGACCTCAGTAA	0.478000														304			21		0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13039215	13039215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13039215G>A	uc002mvs.2	-	6	830	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FARSA_uc010xmv.1_Missense_Mutation_p.A230V	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	261					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CTGGAAGAGGGCGTCAAAGTT	0.597000														88			21		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242082329	242082329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242082329G>A	uc002wao.2	-	1	252	c.119C>T	c.(118-120)tCg>tTg	p.S40L	PASK_uc010zol.2_5'UTR|PASK_uc010zom.2_Missense_Mutation_p.S40L|PASK_uc010fzl.2_Missense_Mutation_p.S40L|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Missense_Mutation_p.S40L|PASK_uc002waq.3_Missense_Mutation_p.S40L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	40					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGAGGAAAACGACCTGCTGGG	0.587000														44			10		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30974044	30974044	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:30974044C>T	uc009yjk.1	-	8	1076	c.1007G>A	c.(1006-1008)tGg>tAg	p.W336*	DCDC5_uc021qfk.1_5'UTR|DCDC5_uc009yjl.1_Intron|DCDC5_uc001msu.2_Nonsense_Mutation_p.W507*	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AAGCTTGTTCCATAGAGGATT	0.408000														12			4		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11452352	11452352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11452352G>A	uc021zzo.1	-	17	3865	c.3613C>T	c.(3613-3615)Cct>Tct	p.P1205S	THSD7A_uc021zzn.1_Missense_Mutation_p.P1203S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1205	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGCATTAGGGCAAGATCTT	0.413000										HNSCC(18;0.044)				17			3		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885675	183885675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183885675C>T	uc001gqm.3	+	16	2410	c.1949C>T	c.(1948-1950)cCg>cTg	p.P650L	RGL1_uc010pog.2_Missense_Mutation_p.P613L|RGL1_uc010poh.2_Missense_Mutation_p.P613L|RGL1_uc001gqo.3_Missense_Mutation_p.P615L|RGL1_uc010poi.2_Missense_Mutation_p.P586L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	615	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding	p.P650P(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCCTCCCCTCCGTCCTGCAAC	0.507000														48			4		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20544117	20544117	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:20544117G>A	uc003gpr.1	+	21	2348	c.2144_splice	c.e21-1	p.G715_splice	SLIT2_uc003gps.1_Splice_Site_p.G707_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	715					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						TGCGATTTAGGAAATGATGAC	0.408000														55			5		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91230397	91230397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:91230397C>T	uc003hsv.4	+	1	1302	c.962C>T	c.(961-963)cCt>cTt	p.P321L	FAM190A_uc003hsu.3_Missense_Mutation_p.P321L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.P321L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	321										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATTATGTCTCCTGGGAAATAT	0.418000														22			7		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40657350	40657350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40657350C>T	uc001zlk.1	+	5	811	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	241					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACTTCAGCTCGAGCTCCCAC	0.612000														104			7		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295239	19295239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:19295239G>A	uc003cbk.1	+	1	365	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	KCNH8_uc011awe.1_Missense_Mutation_p.R57Q|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	57	PAS.					integral to membrane	two-component sensor activity	p.R57Q(2)|p.R57*(1)|p.R57R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGATTTGCCCGAACTGAAGTC	0.458000														29			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237730007	237730007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237730007C>T	uc001hyl.1	+	27	3475	c.3355C>T	c.(3355-3357)Cgt>Tgt	p.R1119C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1119	4 X approximate repeats.|B30.2/SPRY 2.				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.P1118H(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)			TGGTTGGAGTCGTCCTGGTTG	0.532000														109			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510796	110510796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110510796C>T	uc003yne.3	+	65	10809	c.10705C>T	c.(10705-10707)Cca>Tca	p.P3569S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3569					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCTAGATCTCCATCAGGTGA	0.353000										HNSCC(38;0.096)				39			7		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67776851	67776851	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:67776851G>A	uc002lkp.2	-	27	3854	c.3786C>T	c.(3784-3786)tcC>tcT	p.S1262S	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.S350S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1262							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCCGCTCAAGGGACGGCAGGC	0.512000														43			8		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19213005	19213005	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19213005G>A	uc001bbb.3	-	4	526	c.250_splice	c.e4-1	p.P84_splice	ALDH4A1_uc010ocu.2_Splice_Site_p.P24_splice|ALDH4A1_uc001bbc.3_Splice_Site_p.P84_splice|ALDH4A1_uc021ohl.1_Splice_Site_p.P84_splice	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	84					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGGTTAAAAGGCTGAAAGGAG	0.557000														41			9		0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032372	4032372	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:4032372C>T	uc003mvv.3	+	1	712	c.621C>T	c.(619-621)atC>atT	p.I207I	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	207	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTATTGAAATCGTTAAAGAGA	0.348000														85			10		0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1153970	1153970	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1153970G>A	uc001adh.4	-	5	1109	c.780C>T	c.(778-780)tcC>tcT	p.S260S	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_Silent_p.S260S|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	260	EF-hand 4.				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCACGGGCAGGGAGATGAACT	0.607000														68			8		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30683449	30683449	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30683449G>A	uc003ahi.3	-	7	921	c.804C>T	c.(802-804)acC>acT	p.T268T	TBC1D10A_uc003ahd.3_Silent_p.T95T|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_5'UTR|TBC1D10A_uc010gvs.2_5'UTR	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGCGATCTTGGTGACCCCAG	0.612000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			4		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997355	85997356	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:85997355_85997356GG>AA	uc001kcz.1	-	1	231_232	c.209_210CC>TT	c.(208-210)gcc>gTT	p.A70V		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	70						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCCTGCGTATGGCCGTCCGCTC	0.673000														81			6		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91147627	91147627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91147627C>T	uc002bpp.3	+	4	530	c.424C>T	c.(424-426)Cct>Tct	p.P142S	CRTC3_uc002bpo.3_Missense_Mutation_p.P142S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	142					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCTCCTTGGAAAGA	0.438000			T	MAML2	salivary gland mucoepidermoid									66			5		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493519	60493519	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60493519G>A	uc010wpc.2	+	11	1373	c.1302G>A	c.(1300-1302)tgG>tgA	p.W434*	EFCAB3_uc002izu.2_Nonsense_Mutation_p.W382*	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	382							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CATGGTCCTGGAATGTTTGCC	0.408000														70			4		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46800960	46800960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46800960C>T	uc011dwh.1	+	9	1386	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	MEP1A_uc010jzh.1_Missense_Mutation_p.P432S|MEP1A_uc011dwg.1_Missense_Mutation_p.P154S|MEP1A_uc011dwi.1_Missense_Mutation_p.P332S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	432	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AACCCCCTGCCCCACAGGGGT	0.517000														52			4		0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417599	46417599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46417599C>T	uc002pdu.3	-	0	438	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.	118					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CTGCTGGCCACCGTTAAGCGG	0.672000														34			4		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165560956	165560956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:165560956G>A	uc002ucp.3	-	7	1445	c.1223C>T	c.(1222-1224)cCa>cTa	p.P408L	COBLL1_uc002ucq.3_Missense_Mutation_p.P408L|COBLL1_uc010zcw.2_Missense_Mutation_p.P474L|COBLL1_uc010zcx.2_Missense_Mutation_p.P454L|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.P177L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	446								p.P408T(1)		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						TGTCATACCTGGGCTGGATAG	0.423000														57			11		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11887244	11887244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11887244C>T	uc001ate.4	+	9	919	c.806C>T	c.(805-807)tCg>tTg	p.S269L	CLCN6_uc009vnf.1_Silent_p.F272F|CLCN6_uc009vng.1_Silent_p.F260F|CLCN6_uc009vnh.1_Missense_Mutation_p.S269L|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Missense_Mutation_p.S247L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	269					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGGGTTCGTCCTTCTGG	0.552000														63			4		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17607200	17607200	+	Missense_Mutation	SNP	G	A	A	rs138012325		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17607200G>A	uc001bai.3	+	14	1710	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	557					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)	GTGCTGAAGCGGGAGCTGGGC	0.592000														76			22		0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4180894	4180894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4180894G>A	uc002lzo.3	-	1	139	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	ANKRD24_uc010dtt.1_5'Flank|SIRT6_uc002lzq.3_Missense_Mutation_p.P27S|SIRT6_uc002lzp.3_Missense_Mutation_p.P27S|SIRT6_uc010xid.2_Intron|SIRT6_uc002lzr.3_Intron	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA.	27					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTCCGGGGGGTCGAAG	0.637000														37			4		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140003	50140003	+	Silent	SNP	G	A	A	rs6096459		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50140003G>A	uc002xwd.3	-	1	997	c.777C>T	c.(775-777)gcC>gcT	p.A259A	NFATC2_uc002xwc.3_Silent_p.A259A|NFATC2_uc010zyv.2_Silent_p.A40A|NFATC2_uc010zyw.2_Silent_p.A40A|NFATC2_uc002xwe.3_Silent_p.A239A|NFATC2_uc010zyx.2_Silent_p.A239A|NFATC2_uc010zyy.2_Silent_p.A40A|NFATC2_uc010zyz.2_Silent_p.A40A	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	259	3 X approximate SP repeats.				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)					GGGCAACCAAGGCCTCGGCGC	0.751000														45			8		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699608	169699608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169699608G>A	uc001ggm.4	-	4	837	c.680C>T	c.(679-681)tCt>tTt	p.S227F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	227	Sushi 1.				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)					CCATTCTCCAGAGGACATACA	0.473000														29			8		0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111631566	111631567	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:111631566_111631567GA>AT	uc001kyp.2	-	16	1625_1626	c.1505_1506TC>AT	c.(1504-1506)ttc>tAT	p.F502Y	XPNPEP1_uc009xxt.2_Missense_Mutation_p.F478Y|XPNPEP1_uc001kyq.2_Missense_Mutation_p.F388Y	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	459					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTCCAGTCGGGAAAACGGCTGC	0.460000														85			5		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683932	3683932	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3683932G>A	uc002wja.3	-	4	1140	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	SIGLEC1_uc002wiz.4_Silent_p.A380A|SIGLEC1_uc002wjc.3_Silent_p.A291A	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	380	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGCCCTAGTGGCCAAGTGCA	0.592000														48			4		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56379215	56379215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56379215G>A	uc002qmd.4	+	5	2749	c.2327G>A	c.(2326-2328)aGc>aAc	p.S776N	NLRP4_uc002qmf.3_Missense_Mutation_p.S701N|NLRP4_uc010etf.3_Intron	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	776							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)		GCCCTGTGCAGCCCAGACACG	0.537000														44			9		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:161116303C>T	uc003lyu.2	+	4	828	c.490C>T	c.(490-492)Cct>Tct	p.P164S	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)				56			6		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52395698	52395698	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52395698C>T	uc011bef.2	+	29	5157	c.4896C>T	c.(4894-4896)ttC>ttT	p.F1632F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1632	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCCTGCTTCGACGAGTTCA	0.642000														5			3		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117551	58117551	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58117551T>G	uc002qpk.2	+	2	878	c.658T>G	c.(658-660)Ttt>Gtt	p.F220V	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGGAAATCTTTTAGAGAGAA	0.443000														51			5		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109804458	109804458	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109804458C>T	uc001dxa.4	+	4	4387	c.4326C>T	c.(4324-4326)ttC>ttT	p.F1442F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1442	Laminin G-like 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTCCCCATTCGTGCCCGGAG	0.592000														168			31		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508466	123508466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:123508466C>T	uc003vlc.3	+	2	777	c.139C>T	c.(139-141)Cct>Tct	p.P47S	HYAL4_uc011knz.2_Missense_Mutation_p.P47S	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	47					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.P47L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAAGGAAACCTTTTATAGC	0.348000														37			5		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077729	56077729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56077729G>A	uc010spr.2	+	1	840	c.631G>A	c.(631-633)Gat>Aat	p.D211N		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	211							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GACCTGGAAGGATCTTGAGAA	0.547000														62			4		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7075675	7075675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7075675C>T	uc002mga.3	+	3	526	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ZNF557_uc002mgb.3_Intron|ZNF557_uc002mgc.3_Missense_Mutation_p.S14F	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCTCTGTCTTCCCTGTTCCCA	0.552000														42			12		0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89293954	89293954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89293954C>T	uc021tms.1	+	6	1597	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	ZNF778_uc010vpg.2_Missense_Mutation_p.P155S|ZNF778_uc002fmv.3_Missense_Mutation_p.P392S|ZNF778_uc002fmw.2_Missense_Mutation_p.P350S	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGGAATAAAACCCTATACATG	0.463000														52			4		0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132671209	132671209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:132671209C>T	uc004byw.1	-	11	1474	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	FNBP1_uc011mbv.1_Missense_Mutation_p.D409N|FNBP1_uc011mbw.1_Missense_Mutation_p.D414N|FNBP1_uc004bza.2_Missense_Mutation_p.D353N|FNBP1_uc004byz.1_Missense_Mutation_p.D390N|FNBP1_uc011mbu.1_Missense_Mutation_p.D47N|FNBP1_uc004byx.1_Missense_Mutation_p.D335N|FNBP1_uc004byy.1_Missense_Mutation_p.D325N	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	419	Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTTAACTCATCGACTTTCTGC	0.423000			T	MLL	AML									14			3		0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652155	15652155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:15652155C>T	uc003stc.3	-	2	1053	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	258					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTCACCAGTTCCTTTTCCCGA	0.507000														67			5		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71894588	71894588	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71894588C>T	uc010fen.3	+	47	5541	c.5400C>T	c.(5398-5400)gtC>gtT	p.V1800V	DYSF_uc010fei.3_Silent_p.V1778V|DYSF_uc010feh.3_Silent_p.V1768V|DYSF_uc002sig.4_Silent_p.V1747V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.V1792V|DYSF_uc010fee.3_Silent_p.V1782V|DYSF_uc010fef.3_Silent_p.V1799V|DYSF_uc002sie.3_Silent_p.V1761V|DYSF_uc010feo.3_Silent_p.V1793V|DYSF_uc010fej.3_Silent_p.V1769V|DYSF_uc010fel.3_Silent_p.V1748V|DYSF_uc010fem.3_Silent_p.V1783V|DYSF_uc002sif.3_Silent_p.V1762V|DYSF_uc010fek.3_Silent_p.V1779V|DYSF_uc010yqy.2_Silent_p.V642V|DYSF_uc010yqz.2_Silent_p.V522V	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1761						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGGCCTGGTCCCGGAGCACG	0.642000														69			10		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616172	1616172	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1616172C>T	uc002wfm.1	-	3	887	c.822G>A	c.(820-822)agG>agA	p.R274R	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	274	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGTAGAACTTCCTCACCTGGC	0.547000														91			11		0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73163731	73163731	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73163731C>T	uc022avu.1	-	0		c.139G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		TCCCGCACATCCTCATAGACA	0.642000														69			7		0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1056845	1056845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:1056845C>T	uc003zha.3	+	3	1458	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.H264Y|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.H420Y	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	420					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CCTTCAGGGTCATCAGGCTGT	0.562000														70			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224648	3224648	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:3224648C>T	uc022aqr.1	-	19	3411	c.3021G>A	c.(3019-3021)acG>acA	p.T1007T	CSMD1_uc011kwj.2_Silent_p.T400T|CSMD1_uc003wqe.3_Silent_p.T164T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1008	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGCCTTGATCGTATGAGGCA	0.478000														8			4		0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50399229	50399229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50399229G>A	uc002pqv.2	-	5	951	c.122C>T	c.(121-123)cCc>cTc	p.P41L	IL4I1_uc002pqt.1_Missense_Mutation_p.P32L|IL4I1_uc021uxy.1_Missense_Mutation_p.P54L|IL4I1_uc002pqu.2_Missense_Mutation_p.P54L|IL4I1_uc010eno.2_Missense_Mutation_p.P40L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	32						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TTTCTCGAAGGGGTCTTGGCT	0.617000														57			6		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134459920	134459920	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:134459920G>A	uc022bos.1	-	19	2952	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	RAPGEF1_uc022bot.1_Silent_p.F913F	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	913	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGATCTTGATGAACTTCAAGA	0.567000														92			14		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51264798	51264798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:51264798G>A	uc011bds.2	+	15	1485	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	488	DHR-1.					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)		TCCTCGCTGGGGAGAAATTAT	0.502000														63			15		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47113180	47113180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:47113180C>T	uc002ldv.3	+	8	1693	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	LIPG_uc010xdh.2_Missense_Mutation_p.R407C	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	481	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCTCTGGTTTCGCAAGTGTCG	0.507000														46			12		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124257473	124257473	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124257473C>T	uc001uft.4	+	3	331	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	102	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGTTTTTCCTCAGAAATA	0.468000														88			8		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075107	106075107	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:106075107G>A	uc001kyf.3	-	2	1156	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	ITPRIP_uc001kye.3_Silent_p.L235L|ITPRIP_uc001kyg.3_Silent_p.L235L|ITPRIP_uc021pxv.1_Silent_p.L235L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	235						plasma membrane		p.L235L(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGGCGATCCAGGGGCACTGAG	0.652000														59			7		0	0	1	0	0
MRPL55	128308	broad.mit.edu	37	1	228295508	228295508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228295508G>A	uc001hrz.4	-	4	486	c.197C>T	c.(196-198)tCc>tTc	p.S66F	MRPL55_uc001hsg.4_Missense_Mutation_p.S30F|MRPL55_uc009xex.3_Missense_Mutation_p.S30F|MRPL55_uc001hsa.4_Missense_Mutation_p.S30F|MRPL55_uc001hsb.4_Missense_Mutation_p.S30F|MRPL55_uc001hsc.4_Missense_Mutation_p.S30F|MRPL55_uc001hsd.4_Missense_Mutation_p.S30F|MRPL55_uc001hse.4_Missense_Mutation_p.S30F|MRPL55_uc001hsf.4_Missense_Mutation_p.S30F	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN	Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	30					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				AGCTCGCCAGGAGGATGTGTG	0.632000														64			4		0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34104504	34104504	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:34104504T>G	uc001mvh.1	+	8	1071	c.882T>G	c.(880-882)taT>taG	p.Y294*	CAPRIN1_uc001mvg.3_Nonsense_Mutation_p.Y294*|CAPRIN1_uc001mvi.2_Nonsense_Mutation_p.Y294*|CAPRIN1_uc001mvj.1_Nonsense_Mutation_p.Y213*	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	294					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTTTGCAGTATGTAAATAGAC	0.383000														33			6		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6145998	6145998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:6145998G>A	uc003mwv.3	-	14	2176	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	685					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GAGTTGGGCCGGATTTCACTG	0.517000														20			4		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43383710	43383710	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43383710G>A	uc002ovd.1	-	0	162	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.P8P|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.P8P|PSG3_uc002ova.2_Silent_p.P8P|PSG3_uc002ouz.2_Silent_p.P8P|PSG3_uc002ovb.3_Silent_p.P8P	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	8					defense response|female pregnancy	extracellular region		p.P7fs*19(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTGTGTGCAGGGAGGGGCTG	0.572000														98			22		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978763	58978764	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:58978763_58978764CC>AT	uc001nnu.4	-	0	1731_1732	c.1575_1576GG>AT	c.(1573-1578)gcggtc>gcATtc	p.V526F		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	526						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCAAAGGGGACCGCAAACCTGC	0.520000														34			16		0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133547639	133547639	+	Missense_Mutation	SNP	G	A	A	rs149351332	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133547639G>A	uc003epy.3	-	7	1001	c.620C>T	c.(619-621)tCc>tTc	p.S207F	RAB6B_uc011blu.1_Missense_Mutation_p.S194F	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	207					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GCATTAGCAGGAGCAGCCGCC	0.587000														239			44		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115254	57115254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:57115254G>A	uc002lib.3	-	6	806	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CCBE1_uc010dpq.3_Silent_p.F21F|CCBE1_uc002lia.3_Missense_Mutation_p.P99S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	246	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGAGGTCCTGGAAGGTAGGTG	0.577000														80			6		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785712	140785712	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785712C>T	uc004fbq.3	-	1	297	c.204G>A	c.(202-204)gtG>gtA	p.V68V		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	68			V -> L (in dbSNP:rs5953618).			cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					CGTGGTCATTCACCAGTTCCT	0.448000														130			15		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456558	82456558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:82456558C>T	uc001dit.4	+	20	4122	c.3941C>T	c.(3940-3942)tCt>tTt	p.S1314F	LPHN2_uc001dis.3_Missense_Mutation_p.S294F|LPHN2_uc001diu.3_Missense_Mutation_p.S1314F|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.S941F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1370					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACAGAGACTCTCTTTATACA	0.517000														10			3		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29896970	29896970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29896970G>A	uc010vec.2	-	7	1554	c.1309C>T	c.(1309-1311)Ctc>Ttc	p.L437F	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.L367F|SEZ6L2_uc002dur.4_Missense_Mutation_p.L367F|SEZ6L2_uc002duq.4_Missense_Mutation_p.L437F|SEZ6L2_uc010ved.2_Missense_Mutation_p.L393F|SEZ6L2_uc002dus.4_Missense_Mutation_p.L323F	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	437	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACGTAGAGGGACTGGGCG	0.607000														79			8		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645059	186645059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186645059C>T	uc001gsb.3	-	7	1365	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	PTGS2_uc009wyo.3_Missense_Mutation_p.E257K	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	410					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)	GTGAATGATTCAACAAACTGG	0.358000														34			5		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808005	20808005	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:20808005C>T	uc002npb.1	-	3	828	c.678G>A	c.(676-678)gaG>gaA	p.E226E	ZNF626_uc002npc.1_Silent_p.E150E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTTTCTCTCCAGTAT	0.398000														19			3		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2024297	2024297	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2024297C>T	uc003wpx.4	+	10	1335	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	399	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGACTACGTCATCGTGACCT	0.622000														25			7		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785748	140785748	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785748C>T	uc004fbq.3	-	1	261	c.168G>A	c.(166-168)agG>agA	p.R56R		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	56						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TAAAGTTCCTCCTGTAGCGAA	0.488000														132			36		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12284868	12284868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:12284868G>A	uc001rah.4	-	17	3999	c.3857C>T	c.(3856-3858)cCt>cTt	p.P1286L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Intron	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1286	LDL-receptor class A 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGAGCATACAGGACAATTGAG	0.498000														266			22		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001937	98001937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:98001937G>A	uc003dsj.1	+	0	206	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G69W(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTTTTCTTGGGAGTTTAGCC	0.403000														79			7		0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379523	19379523	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19379523G>A	uc002nmd.1	-	5	575	c.525C>T	c.(523-525)acC>acT	p.T175T	HAPLN4_uc002nmc.3_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	175						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGTAGGGGATGGTGAGGAAGA	0.607000														35			4		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482354	76482354	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76482354G>A	uc010dhp.2	-	44	7178	c.7053C>T	c.(7051-7053)ttC>ttT	p.F2351F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGAACACGAAGTACAGCT	0.627000														40			5		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433035	67433035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67433035C>T	uc001omr.3	-	6	866	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ALDH3B2_uc001oms.3_Missense_Mutation_p.D143N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D143N	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	143					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GTCTGGGGGTCGCAGTTGTCG	0.637000														156			14		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21878027	21878027	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21878027G>T	uc001war.2	-	9	2412	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T	CHD8_uc001was.2_Missense_Mutation_p.P504T|CHD8_uc001wav.1_5'UTR	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	783	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGAGTTCTGGGTGCCTTGAC	0.373000														48			4		1	1	1	1	0
APOL1	8542	broad.mit.edu	37	22	36661378	36661378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661378C>T	uc003ape.3	+	6	818	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	APOL1_uc011amn.1_Nonsense_Mutation_p.Q43*|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Nonsense_Mutation_p.Q43*|APOL1_uc003apf.3_Nonsense_Mutation_p.Q166*|APOL1_uc011amp.2_Nonsense_Mutation_p.Q166*|APOL1_uc011amq.2_Nonsense_Mutation_p.Q148*|APOL1_uc010gwx.3_Nonsense_Mutation_p.Q43*	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	166					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGATGGGGTTCAGAAGGTCCA	0.532000														109			8		0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867671	2867672	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2867671_2867672GG>AA	uc011mhh.2	-	6	1063_1064	c.602_603CC>TT	c.(601-603)tcc>tTT	p.S201F	ARSE_uc011mhi.2_Missense_Mutation_p.S122F|ARSE_uc004crc.4_Missense_Mutation_p.S176F			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	176					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	p.S176F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCCATCAAGGAGAAAGGCAT	0.515000														14			5		0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144898752	144898752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144898752G>A	uc003yzs.3	-	11	1682	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Missense_Mutation_p.R497C|PUF60_uc003yzr.3_Missense_Mutation_p.R480C|PUF60_uc003yzt.3_Missense_Mutation_p.R523C	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	540	Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACCACCTTGCGGCCAGCAAAC	0.532000														145			7		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954853	56954853	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56954853T>C	uc001njl.2	+	1	1072	c.925T>C	c.(925-927)Ttc>Ctc	p.F309L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	279	Poly-Glu.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GTTCGTGGGCTTCGTGGTCTC	0.582000														56			4		0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621926	4621926	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4621926G>A	uc001lzf.2	-	6	1328	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	346	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.I346I(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCCAGGACGATATTATAGC	0.527000														21			6		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985459	33985459	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33985459G>A	uc001bxm.1	-	68	10866	c.10689C>T	c.(10687-10689)ttC>ttT	p.F3563F	CSMD2_uc001bxn.1_Silent_p.F3419F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3419						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)				TGAGGGCGATGAAAGGCACCA	0.602000														53			4		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317791	9317791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9317791C>T	uc001qvl.3	-	18	2460	c.2431G>A	c.(2431-2433)Gga>Aga	p.G811R	PZP_uc009zgl.3_Missense_Mutation_p.G680R|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Missense_Mutation_p.G143R	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						AAGACCTCTCCACGAATCACA	0.512000														69			5		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163511	139163511	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139163511C>T	uc003yuy.3	-	12	3378	c.3207G>A	c.(3205-3207)caG>caA	p.Q1069Q	FAM135B_uc003yux.3_Silent_p.Q970Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.Q631Q|FAM135B_uc003yvb.3_Silent_p.Q631Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1069								p.Q1069H(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCCCAAAGGCTGATGGGTGA	0.527000										HNSCC(54;0.14)				34			5		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963346	112963346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:112963346G>A	uc011lwk.2	-	1	1156	c.602C>T	c.(601-603)cCt>cTt	p.P201L	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	201										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TATGGAAAGAGGACATTGAGT	0.527000														46			13		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121732522	121732522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:121732522C>T	uc010flp.3	+	7	1235	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	GLI2_uc002tmq.1_Missense_Mutation_p.S74L|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.S74L|GLI2_uc002tmu.4_Intron|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Intron	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	402					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			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)				GGACACGGCTCATGTGGGTGT	0.567000														67			15		0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	G	G	rs138671696	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62968690A>G	uc002jez.3	-	3		c.641T>C			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AAAATTCCACAAGTCTCTTGG	0.373000														106			4		0	0	1	0	0
RAB41	347517	broad.mit.edu	37	X	69504464	69504464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:69504464G>A	uc010nkv.3	+	7	683	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA.	214					protein transport|small GTPase mediated signal transduction		GTP binding	p.F213F(1)		breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						GGAATCCTTCGAGGAGTCAGG	0.463000														21			11		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47219486	47219486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47219486G>A	uc002pfh.3	-	1	484	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	PRKD2_uc002pfg.3_5'Flank|PRKD2_uc002pfi.3_Missense_Mutation_p.H48Y|PRKD2_uc002pfj.3_Missense_Mutation_p.H48Y|PRKD2_uc010xye.2_Missense_Mutation_p.H48Y|PRKD2_uc002pfk.3_5'UTR	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	48					T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		ATCTGGATGTGAAAGGAGACC	0.697000														49			5		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18757556	18757556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18757556C>T	uc010exr.3	-	7	1341	c.1229G>A	c.(1228-1230)gGg>gAg	p.G410E	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.G468E|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.G408E|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.G468E|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.G451E|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.G485E|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.G470E|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.G408E	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	468					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GACAGCATCCCCATCAAAGGC	0.448000														19			3		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31985558	31985558	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31985558C>T	uc003ale.3	+	14	1932	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SFI1_uc003ald.1_Silent_p.F489F|SFI1_uc003alf.3_Silent_p.F482F|SFI1_uc003alg.3_Silent_p.F431F|SFI1_uc011alp.2_Silent_p.F431F|SFI1_uc011alq.2_Silent_p.F458F|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	513					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAACACGTTTCCACAGGTATG	0.537000														66			7		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50929170	50929170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:50929170C>T	uc002lfe.2	+	18	3458	c.2842C>T	c.(2842-2844)Ccc>Tcc	p.P948S	DCC_uc010xdr.1_Missense_Mutation_p.P776S|DCC_uc010dpf.2_Missense_Mutation_p.P583S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	948	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCTCTGCTCCCAAGGACTT	0.463000														103			5		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671596	49671596	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:49671596G>A	uc002efs.3	-	4	1765	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	ZNF423_uc010vgn.2_Silent_p.F372F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	489					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGATGTCGGCGAACATCTCGG	0.557000														55			10		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138562	56138562	+	Missense_Mutation	SNP	C	T	T	rs140716525	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:56138562C>T	uc010qhy.1	-	4	708	c.313G>A	c.(313-315)Gga>Aga	p.G105R	PCDH15_uc010qhq.2_Missense_Mutation_p.G105R|PCDH15_uc010qhr.2_Missense_Mutation_p.G100R|PCDH15_uc021pqv.1_Missense_Mutation_p.G100R|PCDH15_uc021pqw.1_Missense_Mutation_p.G105R|PCDH15_uc010qht.2_Missense_Mutation_p.G100R|PCDH15_uc021pqx.1_Missense_Mutation_p.G100R|PCDH15_uc001jjv.1_Missense_Mutation_p.G78R|PCDH15_uc021pqy.1_Missense_Mutation_p.G100R|PCDH15_uc021pqz.1_Missense_Mutation_p.G78R|PCDH15_uc010qhv.1_Missense_Mutation_p.G100R|PCDH15_uc010qhw.1_Missense_Mutation_p.G100R|PCDH15_uc010qhx.1_Missense_Mutation_p.G100R|PCDH15_uc010qhz.1_Missense_Mutation_p.G100R|PCDH15_uc010qia.1_Missense_Mutation_p.G78R|PCDH15_uc001jju.1_Missense_Mutation_p.G100R|PCDH15_uc010qib.1_Missense_Mutation_p.G78R|PCDH15_uc001jjw.3_Missense_Mutation_p.G100R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	100	Cadherin 1.				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.D104H(1)		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)				AGAACTCTTCCGGTGCTGTTC	0.358000										HNSCC(58;0.16)				11			3		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735962	12735962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12735962C>T	uc004cuz.2	+	15	3523	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L	FRMPD4_uc011mij.2_Missense_Mutation_p.S998L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1006					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGACTAAGTCGGTCACTGAC	0.537000														46			8		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3678647	3678647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:3678647C>T	uc003smx.3	+	2	609	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	157	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACATTATTCCATCTTTGCAG	0.403000														26			3		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390597	197390597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390597C>T	uc001gtz.3	+	5	1848	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	CRB1_uc010poz.2_Nonsense_Mutation_p.Q478*|CRB1_uc009wza.3_Nonsense_Mutation_p.Q435*|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Nonsense_Mutation_p.Q547*|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Nonsense_Mutation_p.Q28*|CRB1_uc001gub.1_Nonsense_Mutation_p.Q196*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	547	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						CTTATCAATTCAGGTCAATAA	0.458000														49			9		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786609	67786609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:67786609C>T	uc003xwz.4	+	2	314	c.143C>T	c.(142-144)cCc>cTc	p.P48L	MCMDC2_uc003xwv.3_Missense_Mutation_p.P48L|MCMDC2_uc011lev.2_Missense_Mutation_p.P48L|MCMDC2_uc011lew.2_Intron|MCMDC2_uc011lex.2_Intron|MCMDC2_uc003xwy.4_Missense_Mutation_p.P48L	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	48					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTAATAAATCCCTCTGATGTT	0.308000														37			4		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945117	144945117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144945117C>T	uc003zaa.1	-	0	2318	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	769						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.F768F(1)		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)			GTGTTGGGGTCGAAGAAGCCC	0.627000														115			12		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984134	2984134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2984134C>T	uc003smv.3	-	4	730	c.396G>A	c.(394-396)atG>atA	p.M132I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	132					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.Q132>HTLMTWW(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)		TGACCTCGTTCATCAGGAAGT	0.602000			Mis		DLBCL									78			5		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898189	30898189	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30898189C>T	uc002wxq.3	+	1	789	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KIF3B_uc010ztv.2_Silent_p.V203V|KIF3B_uc010ztw.2_Silent_p.V203V	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	203	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCGTTCTGTCGGTGCTACCA	0.493000														32			4		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113539774	113539774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:113539774G>A	uc003iau.3	-	5	1635	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	C4orf21_uc003iaw.3_Missense_Mutation_p.S475L	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	475										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGATGACTCTGATTGTTCATA	0.353000														53			6		0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114524263	114524263	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114524263T>A	uc001eer.1	+	2	1202	c.1093T>A	c.(1093-1095)Ttt>Att	p.F365I	OLFML3_uc001ees.1_Missense_Mutation_p.F345I|OLFML3_uc001eet.1_Missense_Mutation_p.F221I	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	365	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		ACTCCCTTATTTTCCCCGCAG	0.582000														51			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713528	183713528	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183713528C>T	uc003ivd.1	+	24	5778	c.5703C>T	c.(5701-5703)acC>acT	p.T1901T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1901					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)		CTCGCCACACCATGCAGACCA	0.552000														63			6		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276098	63276098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63276098C>T	uc001nxc.2	+	1	550	c.209C>T	c.(208-210)cCt>cTt	p.P70L	LGALS12_uc001nxa.2_Missense_Mutation_p.P70L|LGALS12_uc001nxb.2_Missense_Mutation_p.P70L|LGALS12_uc001nxd.2_Missense_Mutation_p.P9L|LGALS12_uc001nxe.2_Missense_Mutation_p.P9L|LGALS12_uc009yot.2_Silent_p.P32P	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	70	Galectin 1.				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						GGAGTGGTCCCTCTAGATGCA	0.572000														58			4		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136323	21136323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21136323G>A	uc002kum.4	-	7	1484	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	NPC1_uc010xaz.2_Missense_Mutation_p.R205W|NPC1_uc010xba.1_Missense_Mutation_p.R249W	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	404			R -> P (in NPC1).|R -> Q (in NPC1).|R -> W (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCTCCGTCCGGAAGAAAGGC	0.562000														42			8		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536668	5536668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5536668C>T	uc001maz.4	-	0	1289	c.1004G>A	c.(1003-1005)aGc>aAc	p.S335N	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	335										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACCACCAGAGCTATTATAGAT	0.502000														55			6		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154680484	154680484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154680484G>A	uc021pah.1	-	8	2523	c.2209C>T	c.(2209-2211)Ccg>Tcg	p.P737S	KCNN3_uc001ffo.3_Missense_Mutation_p.P417S|KCNN3_uc001ffp.3_Missense_Mutation_p.P722S	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	727						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TACGGGGTCGGGAAGGAGGTG	0.562000														158			19		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905736	2905736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2905736G>A	uc002cry.1	-	3	464	c.398C>T	c.(397-399)tCc>tTc	p.S133F		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TTCCTTCCAGGAATACACAGG	0.622000														61			11		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111691128	111691128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:111691128C>T	uc010yxk.1	+	11	1192	c.968C>T	c.(967-969)tCg>tTg	p.S323L	ACOXL_uc021vmm.1_Missense_Mutation_p.S146L|ACOXL_uc021vmn.1_Missense_Mutation_p.S146L	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	323					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						AACAGTCGCTCGCTGCAGGCT	0.627000														42			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736846	140736846	+	Silent	SNP	C	T	T	rs139727169	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140736846C>T	uc003ljq.2	+	0	2079	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.L693L|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	694					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)			CACTCTATCTCGTGGTGGCAG	0.607000														21			3		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409665	4409665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4409665C>T	uc002mal.3	+	2	969	c.869C>T	c.(868-870)cCc>cTc	p.P290L		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	290	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCTCTCCCTCTTCCACC	0.617000								Chromatin Structure						44			12		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205813996	205813996	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205813996C>T	uc001hdj.3	-	3	595	c.519G>A	c.(517-519)ctG>ctA	p.L173L	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	173						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACTTCCTGATCAGCAGGAGCT	0.488000														53			4		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9724895	9724895	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9724895C>T	uc003brz.3	+	9	1082	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	MTMR14_uc003bsa.3_Silent_p.L311L|MTMR14_uc003bsb.3_Silent_p.L311L|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Silent_p.L65L|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	311						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACAAAACTACCTGAAGCTGCT	0.428000														54			4		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533878	69533878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:69533878C>T	uc021xow.1	-	1	911	c.753G>A	c.(751-753)atG>atA	p.M251I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	251					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAGCTTTCCCCATTGTCTCAA	0.363000														29			6		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														144			8		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505359	159505359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159505359C>T	uc010piw.2	-	0	439	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C146S(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CCAAAGGACCCACACACCAGC	0.512000														41			4		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141037	20141037	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20141037G>A	uc001bcr.3	-	0	735	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	186						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCAGGGCGATGATGAAGG	0.627000														88			7		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093224	69093224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69093224C>T	uc002sez.1	-	1	973	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	272					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GAAATCATTTCATTCAGTTCC	0.463000														18			4		0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	138003356	138003356	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138003356C>T	uc003esa.1	+	19	2134	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.I572I|ARMC8_uc011bmg.1_Silent_p.I536I|ARMC8_uc011bmh.1_Silent_p.I530I|ARMC8_uc003esb.1_Silent_p.I561I|ARMC8_uc003esc.1_Silent_p.I361I|ARMC8_uc003esf.1_Silent_p.I172I	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	603							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGAAAATCAAGTATTACA	0.383000														133			11		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51178159	51178159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:51178159G>A	uc003bnh.4	+	2	331	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.E107K	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	107	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAGCAAAGGAAATTACATA	0.468000														98			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480585	181480585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181480585C>T	uc009wxt.3	+	2	646	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	CACNA1E_uc001gow.3_Missense_Mutation_p.H151Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.H151Y|CACNA1E_uc009wxr.3_Missense_Mutation_p.H58Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	151					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F150F(1)		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						GTTCATCTTCCATAAGGGCTC	0.478000														123			16		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53547716	53547716	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53547716G>A	uc001cuv.3	+	9	2037	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	PODN_uc010onr.2_Silent_p.Q604Q|PODN_uc010ons.2_Silent_p.Q481Q|PODN_uc001cuw.3_Silent_p.Q604Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	575					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACCTGCAGGTCTTGGACA	0.572000														75			8		0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7594574	7594574	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7594574C>T	uc002mgo.3	+	10	1476	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	MCOLN1_uc002mgp.3_Silent_p.I410I	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	445					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGCTGGATCGTGCTGGGGC	0.582000														138			8		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063293	41063293	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41063293C>T	uc002icb.1	+	4	1003	c.924C>T	c.(922-924)gtC>gtT	p.V308V	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	308					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCTGCACGTCTTTGACTCCT	0.562000														156			26		0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	368793	368793	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:368793C>T	uc002wdn.3	+	2	537	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	TRIB3_uc002wdm.3_Silent_p.L47L	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	47	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCCCCCTGCCTGTTGCCCCT	0.637000														73			16		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58108937	58108937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58108937G>A	uc003djj.2	+	20	3409	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	FLNB_uc010hne.2_Missense_Mutation_p.E1082K|FLNB_uc003djk.2_Missense_Mutation_p.E1082K|FLNB_uc010hnf.2_Missense_Mutation_p.E1082K|FLNB_uc003djl.2_Missense_Mutation_p.E913K|FLNB_uc003djm.2_Missense_Mutation_p.E913K	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1082					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGTCCGTGCGAGGCCAAAAT	0.567000														105			5		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439236	14439236	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:14439236G>A	uc002yja.4	+	9		c.2754G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAAAATTAGGGAAGAATTAGG	0.294000														8			4		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27100000	27100000	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27100000T>A	uc011lak.2	-	2	137	c.23A>T	c.(22-24)gAg>gTg	p.E8V	STMN4_uc003xfj.3_Missense_Mutation_p.E8V|STMN4_uc011lai.2_Missense_Mutation_p.E8V|STMN4_uc011laj.2_5'UTR|STMN4_uc003xfk.3_Missense_Mutation_p.E8V|STMN4_uc010luo.3_Missense_Mutation_p.E8V	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	8					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CTTCATCTTCTCTTTGTAGGC	0.577000														28			5		0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37620139	37620139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:37620139C>T	uc002xjh.3	+	5	523	c.493C>T	c.(493-495)Ccg>Tcg	p.P165S	DHX35_uc010zwa.2_Missense_Mutation_p.P10S|DHX35_uc010zwc.2_Missense_Mutation_p.P134S|DHX35_uc010zwb.2_Missense_Mutation_p.P10S	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	165	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P165P(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GATGGTTGATCCGTTGTTAAC	0.353000														24			6		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124988736	124988736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:124988736G>A	uc004blx.4	-	3	452	c.380C>T	c.(379-381)tCc>tTc	p.S127F	LHX6_uc010mvw.3_Missense_Mutation_p.S98F|LHX6_uc022bmx.1_Missense_Mutation_p.S116F|LHX6_uc004bly.4_Missense_Mutation_p.S127F	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	98	Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GCGACACACGGAGCACTCGAG	0.637000														110			21		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39623286	39623286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39623286C>T	uc002hwr.3	-	0	353	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	98	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGCATGGTTTCCTTCTCATTG	0.607000														102			14		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30412626	30412626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30412626C>T	uc003agv.4	+	14	1941	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	MTMR3_uc003agu.4_Missense_Mutation_p.S538L|MTMR3_uc003agw.4_Missense_Mutation_p.S538L	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	538	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCGTGTGGTCACTTCTTCGG	0.498000														121			10		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356376	34356376	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34356376C>T	uc001zhk.1	+	2	2128	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	CHRM5_uc001zhl.1_Silent_p.V486V|CHRM5_uc021sir.1_Silent_p.V486V	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	486					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TGTGCTATGTCAATAGCACTG	0.483000														90			5		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196654241	196654241	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:196654241T>C	uc001gtj.4	+	6	1078	c.838T>C	c.(838-840)Tta>Cta	p.L280L	CFH_uc001gti.4_Silent_p.L280L|CFH_uc009wyw.3_Silent_p.L280L|CFH_uc009wyx.3_Silent_p.L216L	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	280	Sushi 5.				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						CTACTCACCTTTAAGGATTAA	0.348000														10			3		0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42230109	42230109	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42230109C>T	uc002ifi.2	+	4	1650	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	C17orf53_uc010czq.2_Silent_p.F471F|C17orf53_uc002ifj.2_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	471										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTAGCTGCTTCCTCTGTACCT	0.537000														82			7		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572533	56572533	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56572533G>A	uc002iwj.2	-	15	3080	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	990						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGTGCTAGAGACTTGCTTTG	0.498000														140			22		0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42626697	42626697	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42626697C>T	uc002osp.3	-	1	122	c.60G>A	c.(58-60)gaG>gaA	p.E20E	POU2F2_uc002osn.3_Silent_p.E20E|POU2F2_uc002osq.3_Silent_p.E20E|POU2F2_uc002osr.2_Silent_p.E20E	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	20					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A19A(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GACCTTGCTTCTCGGCCTCCA	0.622000														33			4		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157868	27157868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:27157868C>T	uc011lno.2	+	1	534	c.92C>T	c.(91-93)tCc>tTc	p.S31F	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.S31F|TEK_uc003zqi.4_Missense_Mutation_p.S31F|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.S8F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	31					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTGATCAATTCCCTACCTCTT	0.458000														113			13		0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75186374	75186374	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75186374G>A	uc009xrh.3	-	4	635	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	MSS51_uc001juc.3_Silent_p.L165L|MSS51_uc001jud.3_Silent_p.L165L|MSS51_uc009xrg.3_Silent_p.F87F	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	165							zinc ion binding										CCTGTGACCAGAAGCCATTCC	0.463000														142			10		0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410965	32410965	+	Missense_Mutation	SNP	C	T	T	rs61117681		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32410965C>T	uc003obh.3	+	2	441	c.332C>T	c.(331-333)cCt>cTt	p.P111L	HLA-DRA_uc003obi.3_Intron	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	111	Alpha-2.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCCCCAGTACCTCCAGAGGTA	0.502000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					32			3		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372269	114372269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114372269G>A	uc001eds.3	-	17	2325	c.2195C>T	c.(2194-2196)tCa>tTa	p.S732L	PTPN22_uc021orx.1_Missense_Mutation_p.S704L|PTPN22_uc009wgq.3_Missense_Mutation_p.S677L|PTPN22_uc021ory.1_Missense_Mutation_p.S708L|PTPN22_uc010owo.2_Missense_Mutation_p.S488L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.S732L|PTPN22_uc009wgs.2_Missense_Mutation_p.S605L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	732					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGATGTTGAATTTTCCAT	0.363000														80			33		0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99688740	99688740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99688740G>A	uc003usu.3	+	6	645	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	205					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACGTAGCCCGAATGACAGCA	0.562000														52			15		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975869	94975869	+	Missense_Mutation	SNP	C	T	T	rs144591334		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:94975869C>T	uc001tdj.2	-	1	642	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TMCC3_uc001tdi.2_Missense_Mutation_p.R144Q	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	175						integral to membrane		p.R175Q(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGGGGCAGTTCGAGATTTCAC	0.498000														97			5		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12962040	12962040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12962040G>A	uc003bxt.2	-	5	1961	c.1952C>T	c.(1951-1953)aCc>aTc	p.T651I	IQSEC1_uc003bxu.3_Missense_Mutation_p.T529I|IQSEC1_uc011auw.1_Missense_Mutation_p.T637I	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	651	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGAAAATGGTGTCTGGGTT	0.597000														86			9		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356962	220356962	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220356962G>A	uc010fwg.3	+	39	9591	c.9591G>A	c.(9589-9591)aaG>aaA	p.K3197K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3197	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R3196*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTTGCGAAAGGTTCTCTCTG	0.612000														39			8		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100934477	100934477	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100934477C>T	uc010avx.3	+	2	1035	c.942C>T	c.(940-942)ttC>ttT	p.F314F	WDR25_uc001yhn.3_Silent_p.F314F|WDR25_uc010avy.3_Intron|WDR25_uc001yho.3_Silent_p.F57F	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	314										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCTTTGACTTCGCGCTGCACC	0.642000														152			35		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670708	95670708	+	Silent	SNP	G	A	A	rs111287470	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95670708G>A	uc001yef.2	-	8	1094	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	326						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAGTCAGAACGAAGACTTTGC	0.443000														113			14		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549803	205549803	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205549803C>T	uc001hcv.4	+	2	530	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F93F	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	148					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCCATTTCTTCGTGGGCTTTG	0.637000														127			39		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180818940	180818940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:180818940G>A	uc010frh.1	-	15	1981	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	CWC22_uc002uno.2_Missense_Mutation_p.P83S|CWC22_uc002unp.2_Missense_Mutation_p.P561S	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	561	MI.					catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACACTCCATGGAAGTGAATCA	0.343000														9			3		0	0	1	0	0
GLT25D2	23127	broad.mit.edu	37	1	183938543	183938543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183938543G>A	uc001gqr.3	-	4	1064	c.692C>T	c.(691-693)cCc>cTc	p.P231L	GLT25D2_uc010poj.1_Missense_Mutation_p.P231L|GLT25D2_uc001gqs.3_Missense_Mutation_p.P111L	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	231					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						CATGGGGACGGGGAAGCAGCC	0.522000														54			5		0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75239252	75239252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75239252G>A	uc001juf.3	-	1	244	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	PPP3CB_uc001jue.3_Missense_Mutation_p.R37C|PPP3CB_uc001jug.3_Missense_Mutation_p.R37C|PPP3CB_uc001juh.2_5'UTR|PPP3CB_uc001jui.2_Missense_Mutation_p.R37C	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.	37	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GATGTCAAGCGATGTGTTGGG	0.358000														31			7		0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517370	20517370	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20517370G>T	uc001bdb.3	+	1	400	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	UBXN10_uc021oia.1_Missense_Mutation_p.G106W	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	106										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGTACCCACTGGGGCTTCCTC	0.527000														60			4		1	1	1	1	0
EPB41L4B	54566	broad.mit.edu	37	9	111938890	111938890	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:111938890C>T	uc004bdz.1	-	24	2869	c.2574G>A	c.(2572-2574)gaG>gaA	p.E858E		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	858						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAGACGGTCTCTGTCAAAG	0.552000														38			5		0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687489	130687489	+	Missense_Mutation	SNP	G	A	A	rs145403966		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130687489G>A	uc011mao.2	-	8	859	c.814C>T	c.(814-816)Ctc>Ttc	p.L272F	PIP5KL1_uc004bsu.3_Missense_Mutation_p.L69F	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	272	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						AGCTCCCGGAGGAAGGTGGTA	0.642000														69			6		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140034155	140034155	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140034155C>T	uc004clk.3	+	0	547	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Nonsense_Mutation_p.Q70*|GRIN1_uc004cln.3_Nonsense_Mutation_p.Q73*|GRIN1_uc004clo.3_Nonsense_Mutation_p.Q73*|GRIN1_uc004clm.3_Nonsense_Mutation_p.Q73*|GRIN1_uc004cll.3_Nonsense_Mutation_p.Q73*	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	73					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CAACGCCATCCAGATGGCTCT	0.647000														64			5		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216458	111216458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111216458C>T	uc001dzv.1	-	0	1198	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	325						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R325*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGATGTTTCGCGAGAAGGT	0.532000														88			12		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785745	140785745	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785745C>T	uc004fbq.3	-	1	264	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	57						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TTTTAAAGTTCCTCCTGTAGC	0.483000														154			14		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680201	48680201	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48680201C>T	uc002irk.1	+	19	4308	c.3936C>T	c.(3934-3936)ctC>ctT	p.L1312L	CACNA1G_uc002iri.1_Silent_p.L1312L|CACNA1G_uc002irj.1_Silent_p.L1289L|CACNA1G_uc002irl.1_Silent_p.L1289L|CACNA1G_uc002irm.1_Silent_p.L1289L|CACNA1G_uc002irn.1_Silent_p.L1289L|CACNA1G_uc002iro.1_Silent_p.L1289L|CACNA1G_uc002irp.1_Silent_p.L1312L|CACNA1G_uc002irq.1_Silent_p.L1289L|CACNA1G_uc002irr.1_Silent_p.L1312L|CACNA1G_uc002irs.1_Silent_p.L1312L|CACNA1G_uc002irt.1_Silent_p.L1312L|CACNA1G_uc002iru.1_Silent_p.L1289L|CACNA1G_uc002irv.1_Silent_p.L1312L|CACNA1G_uc002irw.1_Silent_p.L1289L|CACNA1G_uc002irx.1_Silent_p.L1225L|CACNA1G_uc002iry.1_Silent_p.L1225L|CACNA1G_uc002isg.1_Silent_p.L1225L|CACNA1G_uc002ish.1_Silent_p.L1225L|CACNA1G_uc002isi.1_Silent_p.L1202L|CACNA1G_uc002irz.1_Silent_p.L1225L|CACNA1G_uc002isa.1_Silent_p.L1225L|CACNA1G_uc002isd.1_Silent_p.L1225L|CACNA1G_uc002isb.1_Silent_p.L1225L|CACNA1G_uc002isc.1_Silent_p.L1225L|CACNA1G_uc002ise.1_Silent_p.L1225L|CACNA1G_uc002isf.1_Silent_p.L1225L|CACNA1G_uc002isj.3_Silent_p.L36L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1312					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)	TCCTGACCCTCTCCAATTACA	0.587000														42			4		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691854	8691854	+	Missense_Mutation	SNP	G	A	A	rs137962363		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8691854G>A	uc001quo.1	-	2	344	c.179C>T	c.(178-180)cCt>cTt	p.P60L		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	60						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAATTCTCAGGTAGCTGAAA	0.358000														123			11		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604994	58604994	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:58604994C>T	uc010tro.2	-	2	1395	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	C14orf37_uc001xdc.3_Silent_p.E361E|C14orf37_uc001xdd.3_Silent_p.E361E|C14orf37_uc001xde.3_Silent_p.E361E	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	361						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCTGTGCAGCCTCTGTCCAAG	0.552000														152			21		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25175643	25175643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:25175643G>A	uc003sxn.1	-	9	2282	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	574								p.S574L(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CTTCATCCCCGAATGCTCATT	0.383000														66			8		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167218000	167218000	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167218000A>T	uc003fev.1	-	13	2220	c.1916T>A	c.(1915-1917)tTt>tAt	p.F639Y	WDR49_uc003feu.1_Missense_Mutation_p.F464Y|WDR49_uc011bpd.1_Missense_Mutation_p.F604Y|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	639										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCTTTCCTAAAGTATTTCTC	0.438000														69			13		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52897394	52897394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52897394G>A	uc010ugf.2	-	5	2551	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	FAM214A_uc002acg.4_Missense_Mutation_p.S799F|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.S711F	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	799																	TCCATCCAAGGAATGAAAATT	0.328000														85			6		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042544	60042544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60042544G>A	uc002izo.3	-	19	4744	c.4667C>T	c.(4666-4668)cCt>cTt	p.P1556L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1556	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAAACGAAGGTAGTTTATT	0.428000														93			13		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128028988	128028988	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128028988G>A	uc002toh.1	-	11	1964	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	ERCC3_uc002toe.1_Silent_p.L378L|ERCC3_uc002tof.1_Silent_p.L559L|ERCC3_uc002tog.1_Silent_p.L559L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	623	Helicase C-terminal.				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGATCTGAATGAGGACATTTG	0.453000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					135			17		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465962	223465962	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223465962G>A	uc001hnx.3	-	1	814	c.180C>T	c.(178-180)ccC>ccT	p.P60P	SUSD4_uc001hny.4_Silent_p.P60P|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.P60P|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	60	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGGGAATGCCGGGGTCAGCAC	0.517000														20			5		0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657673	144657673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144657673G>A	uc003yyo.4	-	9	1236	c.1211C>T	c.(1210-1212)cCa>cTa	p.P404L	C8orf73_uc010mff.3_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yym.4_Missense_Mutation_p.P404L|NAPRT1_uc003yyn.4_Missense_Mutation_p.P404L|NAPRT1_uc011lkh.2_Missense_Mutation_p.P404L			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	404					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTCATTCGTGGCTGGCCCCC	0.677000														36			6		0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155460287	155460287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:155460287G>A	uc003iny.3	-	11	1246	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	PLRG1_uc003inz.3_Missense_Mutation_p.S365L	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	374						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)				AGCCCTAACTGATTTTTTGTG	0.353000														21			4		0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145695010	145695010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145695010C>T	uc003zcz.3	+	11	1425	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S	KIFC2_uc003zda.3_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	454	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGTCTTCCCTCCAGACGCCAG	0.617000														68			13		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974457	49974457	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:49974457C>T	uc010rhz.2	+	0	515	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCCTCTTCATCTGTCAATTAC	0.443000														34			7		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6939120	6939120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6939120G>A	uc001qra.1	+	2	627	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	GPR162_uc001qrb.1_Missense_Mutation_p.R6Q|GPR162_uc001qqy.1_Missense_Mutation_p.R134Q	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						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						AAGTACAGACGAATGTCGGGA	0.592000														74			5		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33484668	33484668	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33484668C>T	uc021vft.1	+	12	2432	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P	LTBP1_uc002rou.3_Silent_p.P477P|LTBP1_uc002rov.3_Silent_p.P424P|LTBP1_uc010ymz.2_Silent_p.P477P|LTBP1_uc010yna.2_Silent_p.P424P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	803					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAACTGCACCCCCTGAAAAGG	0.289000														35			14		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853481	122853481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:122853481G>A	uc003ieg.2	-	1	1006	c.932C>T	c.(931-933)gCc>gTc	p.A311V	TRPC3_uc010inr.2_Missense_Mutation_p.A238V|TRPC3_uc003ief.2_Missense_Mutation_p.A238V|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	226					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.K310N(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAGCTCTAGGGCCGTAAGCAC	0.597000														21			4		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486467	76486467	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:76486467G>A	uc002fex.1	+	6	1282	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	CNTNAP4_uc002feu.1_Silent_p.R377R|CNTNAP4_uc002fev.1_Silent_p.R242R|CNTNAP4_uc010chb.1_Silent_p.R305R|CNTNAP4_uc002few.2_Silent_p.R353R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	378					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGAGCTCCAGGAGTTATTTAG	0.418000														63			7		0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223086039	223086039	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:223086039T>C	uc010fwo.3	-	5	1241	c.860A>G	c.(859-861)aAc>aGc	p.N287S	PAX3_uc002vmt.2_Missense_Mutation_p.N287S|PAX3_uc002vmy.2_Missense_Mutation_p.N286S|PAX3_uc002vmv.2_Missense_Mutation_p.N287S|PAX3_uc002vmw.2_Missense_Mutation_p.N287S|PAX3_uc002vmx.2_Missense_Mutation_p.N287S	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	287					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGAGATGGTTGAAAGCCAT	0.507000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							29			4		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147744125	147744125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:147744125G>A	uc004fcp.3	+	2	1356	c.877G>A	c.(877-879)Gat>Aat	p.D293N	AFF2_uc004fco.3_Missense_Mutation_p.D289N|AFF2_uc004fcq.3_Missense_Mutation_p.D289N|AFF2_uc004fcr.3_Missense_Mutation_p.D289N|AFF2_uc011mxb.2_Missense_Mutation_p.D293N|AFF2_uc004fcs.3_Missense_Mutation_p.D289N	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	293					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGACCCATGGATGGCCAGGA	0.493000														36			4		0	0	1	0	0
BC034827	0	broad.mit.edu	37	8	26237320	26237320	+	RNA	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26237320G>C	uc003xew.3	-	1		c.2629C>G								Homo sapiens cDNA clone IMAGE:4826633.																		CTTAAAACTCGACTGGTGCTG	0.463000														34			6		0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997973	40997973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40997973C>T	uc002ibu.3	+	0	1365	c.1330C>T	c.(1330-1332)Cat>Tat	p.H444Y	AOC2_uc002ibt.3_Missense_Mutation_p.H444Y	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	444					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTTCAAAATCATTTCTATGG	0.517000														59			5		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80021296	80021296	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:80021296C>T	uc003kgz.3	+	8	1618	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	455					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAATTCGAGTCGAAAGGATGG	0.343000								Mismatch excision repair (MMR)						29			4		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344324	56344324	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56344324G>A	uc001niz.1	-	0	874	c.874C>T	c.(874-876)Cta>Tta	p.L292L	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGTTCCGTAGGCTATAGATC	0.388000														174			15		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418589	8418589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:8418589G>A	uc001ape.3	-	20	4816	c.4006C>T	c.(4006-4008)Ccc>Tcc	p.P1336S	RERE_uc001apf.3_Missense_Mutation_p.P1336S|RERE_uc001apd.3_Missense_Mutation_p.P782S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1336					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTGCAGGGGGTCCAGCTCT	0.697000														25			5		0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777017	100777017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100777017G>A	uc003uxt.3	+	4	890	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	SERPINE1_uc011kkj.2_Missense_Mutation_p.E233K|SERPINE1_uc003uxu.2_Missense_Mutation_p.E79K	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	248					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CGACATCCTGGAACTGCCCTA	0.552000														60			5		0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404484	61404485	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61404484_61404485CC>TT	uc001nrz.1	+	4	1088_1089	c.333_334CC>TT	c.(331-336)acccgt>acTTgt	p.R112C						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		CAGCTGCCACCCGTGCTGGTGC	0.559000														17			3		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618814	20618814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:20618814G>A	uc003gpr.1	+	34	4333	c.4129G>A	c.(4129-4131)Gga>Aga	p.G1377R	SLIT2_uc003gps.1_Missense_Mutation_p.G1369R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1377					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						CCCTTGCCTTGGAAATAAGTA	0.567000														40			7		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133036805	133036805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133036805C>T	uc003ytg.2	-	12	1357	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	OC90_uc011lix.1_Missense_Mutation_p.E453K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	469					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCGAGGTCCTCCTGTGGAGGG	0.622000														24			4		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670819	134670820	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:134670819_134670820GG>AA	uc003eqt.3	+	2	1105_1106	c.730_731GG>AA	c.(730-732)ggg>AAg	p.G244K	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	244	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACGGGGATGGGGAATGGATG	0.579000														117			8		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127477568	127477568	+	Silent	SNP	C	T	T	rs111727169	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:127477568C>T	uc003kus.3	+	9	1832	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.I556I	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	556					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.I556I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGACACTATCGTAACAGAGC	0.363000														33			4		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095065	145095065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145095065C>T	uc011lkw.2	+	1	569	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SPATC1_uc011lkx.2_Missense_Mutation_p.S156F	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	156										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCCAGTTCCCTGGGCCTG	0.672000														3			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067646	9067647	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9067646_9067647GG>AA	uc002mkp.3	-	2	20003_20004	c.19799_19800CC>TT	c.(19798-19800)acc>aTT	p.T6600I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6602	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6599T(1)		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						TTTCAGAAGTGGTGGTCCCCAC	0.441000														67			18		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41220227	41220227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41220227G>A	uc002oor.2	-	2	480	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	ADCK4_uc002ooq.2_Missense_Mutation_p.R60C|ADCK4_uc002oos.2_Missense_Mutation_p.R60C|ITPKC_uc002oot.3_5'Flank	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	60						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGTGCCCTGCGAATGTCCTCC	0.602000														56			12		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79973140	79973141	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:79973140_79973141GG>AA	uc004edt.3	-	18	2425_2426	c.2162_2163CC>TT	c.(2161-2163)gcc>gTT	p.A721V	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.A550V|BRWD3_uc004edq.3_Missense_Mutation_p.A317V|BRWD3_uc010nmj.2_Missense_Mutation_p.A317V|BRWD3_uc004edr.3_Missense_Mutation_p.A391V|BRWD3_uc004eds.3_Missense_Mutation_p.A317V|BRWD3_uc004edo.3_Missense_Mutation_p.A317V|BRWD3_uc004edu.3_Missense_Mutation_p.A391V|BRWD3_uc004edv.3_Missense_Mutation_p.A317V|BRWD3_uc004edw.3_Missense_Mutation_p.A317V|BRWD3_uc004edx.3_Missense_Mutation_p.A317V|BRWD3_uc004edy.3_Missense_Mutation_p.A317V|BRWD3_uc004edz.3_Missense_Mutation_p.A391V|BRWD3_uc004eea.3_Missense_Mutation_p.A391V|BRWD3_uc004eeb.3_Missense_Mutation_p.A317V	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	721										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCTTTCAGTGGCCATCTGGCT	0.411000														36			20		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174684	51174684	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51174684C>T	uc021tif.1	-	1	1480	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SALL1_uc021tid.1_Silent_p.G386G|SALL1_uc021tie.1_Silent_p.G483G|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	483					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGAACCTGTTCCCGCAGATGT	0.522000														81			13		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005663	25005663	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25005663G>A	uc003grf.2	-	7	1147	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	350						extracellular region		p.L350L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACTGTGGACAGACCAGCCTTT	0.478000														29			6		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135073606	135073606	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:135073606G>A	uc003vsv.2	-	10	1999	c.1668C>T	c.(1666-1668)acC>acT	p.T556T	CNOT4_uc011kpy.2_Intron|CNOT4_uc011kpz.2_Intron|CNOT4_uc003vst.3_Intron|CNOT4_uc003vss.3_Intron|CNOT4_uc003vsu.2_Silent_p.T553T	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	556					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AATGGGAAGAGGTTGACAGTG	0.473000														47			4		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843134	4843134	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4843134C>T	uc010qyn.2	+	0	519	c.519C>T	c.(517-519)gtC>gtT	p.V173V		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTGCCAGTCATGCTCTTTG	0.443000														88			6		0	0	1	0	0
COX8A	1351	broad.mit.edu	37	11	63743713	63743713	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63743713T>C	uc001nye.3	+	1	205	c.131T>C	c.(130-132)cTt>cCt	p.L44P		NM_004074	NP_004065	P10176	COX8A_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIA (ubiquitous) (COX8A), mRNA.	44					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity										GCCGTTGGGCTTACCTCCTGC	0.572000														177			22		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696104	109696104	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109696104G>A	uc004eor.2	+	2	2505	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	RGAG1_uc011msr.1_Silent_p.V753V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	753										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCTGATGTGATGTCCACAC	0.542000														30			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066073	9066073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9066073G>A	uc002mkp.3	-	2	21577	c.21373C>T	c.(21373-21375)Cct>Tct	p.P7125S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7127	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						GAAGTCACAGGAAGAGGAGAG	0.517000														27			9		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173881128	173881128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:173881128C>T	uc001gjt.3	-	2	552	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	145					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GATGTTTTCTCAGATATGGTG	0.433000														44			9		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:4479941G>A	uc001qmq.1	-	2	470	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000														69			12		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906917	42906917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42906917C>T	uc003cme.3	+	2	1101	c.923C>T	c.(922-924)tCc>tTc	p.S308F	CCBP2_uc003cmf.3_Missense_Mutation_p.S308F|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.S308F	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	308					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.S308F(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGCTGCTTTTCCCCCATCCTG	0.577000														108			6		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245121	238245121	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238245121C>T	uc002vwl.2	-	39	8907	c.8622G>A	c.(8620-8622)acG>acA	p.T2874T	COL6A3_uc002vwo.2_Silent_p.T2668T|COL6A3_uc010znj.1_Silent_p.T2267T|COL6A3_uc002vwj.2_Silent_p.T255T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2874	Nonhelical region.|Thr-rich.				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)		TCACCGGCTTCGTTGTCGTCA	0.433000														133			15		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756538	124756538	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124756538G>A	uc001qbg.3	-	15	2756	c.2616C>T	c.(2614-2616)tcC>tcT	p.S872S	ROBO4_uc010sas.2_Silent_p.S727S|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Silent_p.S430S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	872					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CATTGGCTAAGGAGCCCTCGC	0.667000														25			7		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234854546	234854546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234854546C>T	uc002vvh.3	+	6	786	c.746C>T	c.(745-747)cCa>cTa	p.P249L	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	249						integral to membrane		p.P249P(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACAAGAGATCCACTGTATATC	0.438000														73			8		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89910949	89910949	+	Missense_Mutation	SNP	G	A	A	rs143197057	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:89910949G>A	uc003pna.2	-	2	664	c.209C>T	c.(208-210)tCg>tTg	p.S70L	GABRR1_uc011dzv.1_Missense_Mutation_p.S47L	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	70					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S69T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGTCAGAGGCGATTTGGTGAT	0.478000														85			6		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238638	48238638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:48238638G>A	uc010rhs.2	+	0	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CATCTCTCTGGAAGGCTGTCT	0.448000														46			7		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136573491	136573491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136573491G>A	uc004cep.4	-	10	1522	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	SARDH_uc004ceo.3_Missense_Mutation_p.S463F|SARDH_uc011mdo.2_Missense_Mutation_p.S295F|SARDH_uc011mdn.2_Missense_Mutation_p.S463F	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	463					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.E462Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTTGGCGTAGGACTCATGGCT	0.652000														73			15		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814328	137814328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:137814328G>A	uc002tva.1	+	1	385	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E19K	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)		TGAAATATGCGAACACTTTGC	0.517000														69			15		0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2434083	2434083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2434083G>A	uc002lvy.3	-	7	1250	c.1163C>T	c.(1162-1164)cCa>cTa	p.P388L		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	388	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		GCGCGAGGATGGGCTGGGGGA	0.706000														43			4		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264261	48264261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48264261G>A	uc002iqm.3	-	47	3680	c.3554C>T	c.(3553-3555)cCt>cTt	p.P1185L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1185	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)	GGGACCAGGAGGTCCAGGAGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							32			10		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129129	149129129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149129129G>A	uc003wfv.3	-	5	2397	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCGCTCGCGCGAGTGCACGCG	0.672000														80			5		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395958	154395958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154395958G>A	uc010jih.1	+	0	2699	c.2539G>A	c.(2539-2541)Gaa>Aaa	p.E847K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	847	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCAGAAAGTGAAGATAGGCC	0.438000														30			5		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113299452	113299452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:113299452C>T	uc003ynu.3	-	57	9331	c.9172G>A	c.(9172-9174)Gat>Aat	p.D3058N	CSMD3_uc003yns.3_Missense_Mutation_p.D2260N|CSMD3_uc003ynt.3_Missense_Mutation_p.D3018N|CSMD3_uc011lhx.2_Missense_Mutation_p.D2889N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3058	Sushi 22.					integral to membrane|plasma membrane		p.D3058N(2)		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						GTACCTGGATCGCCACATGTC	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				14			3		0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66534583	66534583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:66534583G>A	uc003xvl.3	-	2	445	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ARMC1_uc011leo.2_Missense_Mutation_p.S25L	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	64					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			GCCAAGTATCGAAGAGCCTAC	0.353000														74			7		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133742	167133742	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:167133742G>A	uc010fpl.3	-	15	2933	c.2592C>T	c.(2590-2592)atC>atT	p.I864I	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	875						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)	TGAAGACGATGATGGCCAACA	0.463000														35			4		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022498	12022498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:12022498C>T	uc001qzz.3	+	4	878	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	202						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L201P(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCGGCCCCTCCGGTCCCCCCT	0.632000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									154			9		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757548	60757548	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60757548C>T	uc002jad.3	+	14	2718	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	772	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCACAATTTCGACCGGAGCC	0.647000														55			6		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156230	111156230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:111156230G>A	uc001vqx.3	+	43	4464	c.4175G>A	c.(4174-4176)gGa>gAa	p.G1392E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1392	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGATTGCAGGAATCCCCCAG	0.682000														45			7		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661323	39661323	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39661323T>G	uc002hwu.1	-	0	543	c.480A>C	c.(478-480)gaA>gaC	p.E160D	KRT13_uc002hwv.1_Missense_Mutation_p.E160D|KRT13_uc010wfr.2_Missense_Mutation_p.E53D|KRT13_uc010cxo.3_Missense_Mutation_p.E160D|KRT13_uc021txk.1_Missense_Mutation_p.E53D	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	160	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCCGGAGCTCTTCAATGGTCT	0.592000														35			5		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017564	200017564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200017564C>T	uc001gvb.3	+	4	934	c.728C>T	c.(727-729)tCc>tTc	p.S243F	NR5A2_uc001gvc.3_Missense_Mutation_p.S197F|NR5A2_uc009wzh.3_Missense_Mutation_p.S203F|NR5A2_uc010pph.2_Missense_Mutation_p.S171F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	243					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTTGTAACATCCCCCATTAGC	0.527000														80			12		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986562	20986562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20986562C>T	uc010vbe.2	-	50	8252	c.8252G>A	c.(8251-8253)gGa>gAa	p.G2751E	DNAH3_uc010vbd.2_Missense_Mutation_p.G186E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2751	Stalk (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)		TACCTTGATTCCTTGGGCAAT	0.473000														147			19		0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40883698	40883698	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40883698C>T	uc002onm.4	+	11	1589	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PLD3_uc002onj.4_Silent_p.L397L|PLD3_uc002onn.3_Silent_p.L397L	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	397					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCAGAAACTCTTTGTGGTCC	0.602000														34			4		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527177	132527177	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:132527177G>A	uc010sck.2	-	1	255	c.205C>T	c.(205-207)Cta>Tta	p.L69L	OPCML_uc001qgu.3_Silent_p.L62L|OPCML_uc001qgs.3_Silent_p.L69L|OPCML_uc001qgt.3_Silent_p.L69L|OPCML_uc010scl.2_Silent_p.L28L	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	69	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGCGGTTTAGCCAGGCCACC	0.537000														31			6		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601593	61601593	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61601593T>A	uc002jay.3	+	1	250	c.170T>A	c.(169-171)gTg>gAg	p.V57E	KCNH6_uc002jax.1_Missense_Mutation_p.V57E|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Missense_Mutation_p.V57E|KCNH6_uc002jaz.1_Missense_Mutation_p.V57E	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	57	PAS.				regulation of transcription, DNA-dependent|signal transduction			p.R56R(1)		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)	TACTCCCGAGTGGAGGTGATG	0.612000														164			10		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57752293	57752293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57752293G>A	uc002emi.3	+	7	1201	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	CCDC135_uc002emj.3_Nonsense_Mutation_p.W371*|CCDC135_uc002emk.3_Nonsense_Mutation_p.W306*	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	371						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCTGTGAGATGGGAGTACATG	0.527000														133			11		0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595469	152595469	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152595469C>T	uc010pdt.2	-	0	111	c.111G>A	c.(109-111)ggG>ggA	p.G37G		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	37					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCACAGCCCCCAGAGCTTG	0.652000														57			7		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179196	154179196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154179196C>T	uc003lvo.3	+	8	1216	c.1192C>T	c.(1192-1194)Cgt>Tgt	p.R398C	LARP1_uc021ygh.1_Missense_Mutation_p.R270C|LARP1_uc021ygi.1_Missense_Mutation_p.R475C|LARP1_uc010jie.1_Missense_Mutation_p.R270C	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	475	HTH La-type RNA-binding.						RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGAAAGTTCGTAGGAGGGA	0.483000														71			21		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148919985	148919985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:148919985C>T	uc003ewy.4	-	6	1505	c.1252G>A	c.(1252-1254)Ggc>Agc	p.G418S	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G199S|CP_uc003ewz.3_Missense_Mutation_p.G418S|CP_uc010hvf.1_Missense_Mutation_p.G144S	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	418	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTATAAGAGCCTCCAATTCTT	0.453000														58			4		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44841184	44841184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:44841184G>A	uc002zdf.2	-	5	690	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	188	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GGCGGCATACGGGGGGCTCCC	0.587000														84			8		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768061	31768061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:31768061C>T	uc002nsy.4	-	1	2703	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	880					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)					TCAGCCTCCTCCAGAGTGGCC	0.582000														38			9		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855815	23855815	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23855815C>T	uc001wjv.3	-	32	4739	c.4668G>A	c.(4666-4668)gaG>gaA	p.E1556E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1556					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTTGCCCTCCTCGTGCTCCA	0.632000														145			12		0	0	1	0	0
IPW	3653	broad.mit.edu	37	15	25331747	25331747	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25331747C>T	uc001yyb.4	+	2		c.356C>T			IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Intron|IPW_uc001yyd.3_Intron|IPW_uc001yye.1_Non-coding_Transcript|SNORD116-20_uc001yyf.3_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		ATACCGTCATCCTCGTCGAAC	0.468000														69			10		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338017	39338017	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39338017G>A	uc021uuh.1	-	1	336	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	HNRNPL_uc021uui.1_5'UTR	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	109	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding	p.L109L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCGTCAATCAGGCCCCTGATG	0.522000														67			4		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27730641	27730641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27730641G>A	uc002rky.3	+	13	1303	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	GCKR_uc010ezd.3_Missense_Mutation_p.D411N|GCKR_uc010ylu.2_Missense_Mutation_p.D223N	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	413	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTTCACCCTGGATGGTGAGAG	0.542000														34			26		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111118	11111118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:11111118G>A	uc003jfa.1	-	13	2460	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	CTNND2_uc010itt.2_Missense_Mutation_p.S681L|CTNND2_uc011cmy.1_Missense_Mutation_p.S435L|CTNND2_uc011cmz.1_Missense_Mutation_p.S339L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S339L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	772					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCCGGTACGAGAGGTTCCT	0.537000														94			10		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129999953	129999953	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129999953C>T	uc010sby.2	+	10	1633	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	APLP2_uc001qfp.3_Silent_p.A492A|APLP2_uc001qfq.3_Silent_p.A436A|APLP2_uc010sbz.2_Silent_p.A280A|APLP2_uc001qfr.3_Silent_p.A258A|APLP2_uc001qfs.3_Silent_p.A263A|APLP2_uc021qsg.1_Silent_p.A502A|APLP2_uc001qfv.3_Silent_p.A383A	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	492					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTCTCCAGGCCTTACGGCGTT	0.448000														68			12		0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46705836	46705836	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46705836G>A	uc002zhc.3	-	1	164	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.L47L|POFUT2_uc011afp.1_Silent_p.L47L|POFUT2_uc011afq.1_Silent_p.L47L|LOC642852_uc002zhf.3_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	47					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	p.L46V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		ACGTCATACAGAAGATACCTG	0.562000														87			6		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556155	52556155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52556155G>A	uc003dej.3	+	58	6448	c.6374G>A	c.(6373-6375)gGt>gAt	p.G2125D	STAB1_uc003dek.1_Missense_Mutation_p.G140D|STAB1_uc003del.3_Missense_Mutation_p.G12D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2125	EGF-like 15.				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)		GACTACGAGGGTGATGGCTGG	0.662000														48			6		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980581	121980581	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121980581G>A	uc003eew.4	+	3	1137	c.699G>A	c.(697-699)agG>agA	p.R233R	CASR_uc003eev.4_Silent_p.R233R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	233					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGAGGAAAGGGATATCTGCA	0.502000														136			6		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767630	39767630	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39767630C>T	uc002hxg.4	-	2	877	c.738G>A	c.(736-738)gaG>gaA	p.E246E	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	246	Coil 1B.|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)				AGGCCAGCTCCTCCTTCAGGC	0.647000														64			4		0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561393	69561393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:69561393G>A	uc002ary.1	+	4	1892	c.1664G>A	c.(1663-1665)gGc>gAc	p.G555D		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	555					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATGACACTGGCTCAGGAACC	0.488000														55			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47390724	47390724	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:47390724T>A	uc002leb.2	-	27	3918	c.3630A>T	c.(3628-3630)aaA>aaT	p.K1210N	MYO5B_uc002lea.2_Missense_Mutation_p.K351N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1210					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)		TCTTCAGCTTTTTGTTCTCTG	0.592000														154			36		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12557622	12557622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12557622C>T	uc001atv.3	+	67	12872	c.12731C>T	c.(12730-12732)tCt>tTt	p.S4244F	VPS13D_uc001atw.3_Missense_Mutation_p.S4219F|VPS13D_uc001atx.3_Missense_Mutation_p.S3431F|VPS13D_uc009vnl.3_Non-coding_Transcript|VPS13D_uc010obd.2_Missense_Mutation_p.S242F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	4243					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCCGATATTCTGAGAGCCAG	0.542000														55			21		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36509116	36509116	+	Silent	SNP	C	T	T	rs145947091	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36509116C>T	uc001bzp.3	+	16	2586	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	EIF2C3_uc001bzq.3_Silent_p.F513F	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	747	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding	p.F747F(2)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAGTTCGATTTTTACC	0.348000														40			4		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78081398	78081398	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78081398C>T	uc002jxp.3	+	3	1102	c.735C>T	c.(733-735)ttC>ttT	p.F245F	GAA_uc002jxo.3_Silent_p.F245F|GAA_uc002jxq.3_Silent_p.F245F	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	245					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGGACCAGTTCCTTCAGCTGT	0.637000														137			24		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573155	140573155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140573155C>T	uc003lix.3	+	0	1204	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAATCCCCCTGAACT	0.418000														72			7		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10283842	10283842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10283842G>A	uc003bve.1	+	12	1884	c.1808G>A	c.(1807-1809)aGg>aAg	p.R603K		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	603					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGGCCAAAAGGAAACTGATG	0.418000														60			4		0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160557581	160557581	+	Silent	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:160557581T>A	uc003qtc.3	+	5	1065	c.960T>A	c.(958-960)ctT>ctA	p.L320L	SLC22A1_uc003qtd.3_Silent_p.L320L	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	320						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTAGATGCTTTCCCTCGAAG	0.597000														94			5		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978900	58978900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:58978900C>T	uc001nnu.4	-	0	1595	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	480						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAAGAGGCCCCCAAAAAGCAG	0.493000														83			9		0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11282031	11282031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11282031C>T	uc010lry.1	-	2	1116	c.496G>A	c.(496-498)Gat>Aat	p.D166N	TDH_uc003wtu.2_Intron|TDH_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.D166N	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA.	166										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TAGGTGGCATCGTTGAGCATC	0.592000														73			9		0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28634950	28634950	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:28634950C>T	uc002rma.3	+	3	1425	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	FOSL2_uc021vfg.1_Silent_p.L198L|FOSL2_uc010ymi.2_Silent_p.L167L	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	206					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L206M(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGCCCCTGGGCTGCAGCCCAT	0.667000														55			26		0	0	1	0	0
FLJ00322	0	broad.mit.edu	37	16	15023266	15023266	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15023266C>G	uc010uzk.2	+	5	1111	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	NPIP_uc002dcx.4_Non-coding_Transcript					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGAGGAGCCCCTGACGCTGGC	0.701000														20			3		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68571514	68571514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68571514G>A	uc001oog.4	-	4	679	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CPT1A_uc001oof.4_Missense_Mutation_p.S170L|5S_rRNA_uc021qmn.1_5'Flank	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.498000														71			4		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867299	29867299	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29867299G>A	uc002kxl.3	-	3	1317	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	FAM59A_uc002kxk.2_Silent_p.L421L	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	421										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						TGATAGGGCAGGATGTCATGA	0.532000														97			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015943	34015943	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34015943G>A	uc001bxm.1	-	55	8928	c.8751C>T	c.(8749-8751)tcC>tcT	p.S2917S	CSMD2_uc001bxn.1_Silent_p.S2773S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2892	Sushi 21.					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)				GATGGCCACAGGACACCACTG	0.562000														33			11		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134369687	134369687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:134369687G>A	uc010hty.3	-	0	178	c.116C>T	c.(115-117)tCg>tTg	p.S39L	KY_uc011blw.2_Missense_Mutation_p.S39L|KY_uc011blx.2_Missense_Mutation_p.S39L|KY_uc003eqs.1_Intron	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	39						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGCAGCGAGCTCGGGTT	0.701000														24			4		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089602	10089602	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10089602T>C	uc003buw.3	+	16	1357	c.1279_splice	c.e16-1	p.V427_splice	FANCD2_uc003bux.1_Splice_Site_p.V427_splice|FANCD2_uc003buy.1_Splice_Site_p.V427_splice|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	427					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCACTCAAGGTTCTTAAGGAT	0.408000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					171			6		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446965	226446965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:226446965G>A	uc002voe.2	+	3	1007	c.832G>A	c.(832-834)Gac>Aac	p.D278N	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.D48N	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	278																	TATCTTTGACGACTTGGGCCA	0.537000														91			8		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113510993	113510993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:113510993G>A	uc003iau.3	-	10	3225	c.3014C>T	c.(3013-3015)cCt>cTt	p.P1005L	C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Missense_Mutation_p.P1005L	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	1005										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGTAGAAACAGGGCTCAATGT	0.353000														23			4		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18681838	18681838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:18681838G>A	uc003zne.4	+	11	1522	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	ADAMTSL1_uc003znc.4_Missense_Mutation_p.R457K	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	457	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGGGCCTCAGATACCGTGTG	0.502000														101			7		0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4180901	4180901	+	Silent	SNP	G	A	A	rs34786277	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4180901G>A	uc002lzo.3	-	1	132	c.72C>T	c.(70-72)ttC>ttT	p.F24F	ANKRD24_uc010dtt.1_5'Flank|SIRT6_uc002lzq.3_Silent_p.F24F|SIRT6_uc002lzp.3_Silent_p.F24F|SIRT6_uc010xid.2_Intron|SIRT6_uc002lzr.3_Intron	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA.	24					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGGGTCGAAGATCTGTG	0.632000														32			7		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838860	100838860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:100838860C>T	uc003pqj.4	-	10	2145	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	SIM1_uc021zdg.1_Missense_Mutation_p.E560K|SIM1_uc010kcu.3_Missense_Mutation_p.E560K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	560	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.H559H(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGCTGGGTTCATGTGGGCTA	0.463000														40			8		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247712508	247712508	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247712508C>T	uc001idf.3	+	0	162	c.15C>T	c.(13-15)ctC>ctT	p.L5L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	5										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)			GAAATTATCTCCTGCGAAAAC	0.468000														43			9		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118769	194118769	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194118769G>A	uc003ftv.1	-	1	274	c.243C>T	c.(241-243)atC>atT	p.I81I	GP5_uc021xiz.1_Silent_p.I81I	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	81					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCTGTCGGAGATCATGAGGC	0.597000														80			7		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133920583	133920583	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133920583C>T	uc003ytw.3	+	17	4041	c.4000C>T	c.(4000-4002)Cag>Tag	p.Q1334*	TG_uc010mdw.3_Nonsense_Mutation_p.Q93*	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1334					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGCCAGATCCAGGTACATGC	0.562000														42			6		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661521	36661521	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661521G>A	uc003ape.3	+	6	961	c.687G>A	c.(685-687)gaG>gaA	p.E229E	APOL1_uc011amn.1_Silent_p.E90E|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.E90E|APOL1_uc003apf.3_Silent_p.E213E|APOL1_uc011amp.2_Silent_p.E213E|APOL1_uc011amq.2_Silent_p.E195E|APOL1_uc010gwx.3_Silent_p.E90E	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	213					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTGGGATGGAGTTGGGAATCA	0.562000														129			15		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144381637	144381637	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:144381637C>T	uc003ijd.3	+	8	2249	c.1890C>T	c.(1888-1890)gaC>gaT	p.D630D	GAB1_uc003ije.3_Silent_p.D600D|GAB1_uc011chq.2_Silent_p.D497D	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	600					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.D630V(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CCAGTGAAGACCCAGTATGTA	0.418000														61			4		0	0	1	0	0
CCDC48	79825	broad.mit.edu	37	3	128757682	128757682	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128757682G>A	uc011bkt.2	+	6	1599	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA.	533										breast(1)|kidney(2)|lung(2)|skin(1)	6						AGAACATATCGAAAAGAGCCC	0.552000														74			9		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399702	46399702	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46399702C>T	uc003cpn.4	+	1	1169	c.684C>T	c.(682-684)acC>acT	p.T228T	CCR2_uc003cpm.4_Silent_p.T228T|CCR2_uc021wxa.1_Silent_p.T228T	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	228					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCCTGAAAACCCTGCTTCGGT	0.463000														181			24		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995274	140995274	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140995274C>A	uc004fbt.3	+	3	2408	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P354H	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	695							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)					CTCCAAATTCCTCAGAGTCCT	0.567000										HNSCC(15;0.026)				30			5		1.23904e-05	1.25348e-05	1	1	0
OPRD1	4985	broad.mit.edu	37	1	29189312	29189312	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:29189312G>A	uc001brf.1	+	2	878	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	212					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GGGACACGGTGACCAAGATCT	0.637000														43			10		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074128	34074128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34074128C>T	uc002hjv.2	-	4	1020	c.992G>A	c.(991-993)cGa>cAa	p.R331Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	331					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCAGCCTTCGGTCTGAAGA	0.632000														65			17		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423316	107423316	+	Missense_Mutation	SNP	C	T	T	rs141942088		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107423316C>T	uc002tdq.3	-	5	1527	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E470K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	470					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTACAGCTCGTGGTAGTGG	0.557000														48			8		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25301109	25301110	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25301109_25301110GG>CT	uc003abg.2	+	21	3095_3096	c.2938_2939GG>CT	c.(2938-2940)ggc>CTc	p.G980L	SGSM1_uc010guu.1_Missense_Mutation_p.G925L|SGSM1_uc003abh.2_Missense_Mutation_p.G919L|SGSM1_uc003abj.2_Missense_Mutation_p.G864L|SGSM1_uc003abi.1_Missense_Mutation_p.G900L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	980	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTATGTCCAGGGCATGTGTGAT	0.550000														225			23		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872569	36872569	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36872569C>T	uc003cgj.3	-	20	8621	c.8373G>A	c.(8371-8373)caG>caA	p.Q2791Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2791					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGAGTATTTCTGGTAGGCCA	0.532000														143			21		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721163	7721163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7721163G>A	uc002giu.1	+	65	10239	c.10225G>A	c.(10225-10227)Gaa>Aaa	p.E3409K	DNAH2_uc010cnm.1_Missense_Mutation_p.E347K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3409	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAAGAACATGGAAGGAGGCCA	0.612000														44			8		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370908	240370908	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240370908C>T	uc010pye.2	+	5	3033	c.2808C>T	c.(2806-2808)ctC>ctT	p.L936L	FMN2_uc010pyd.2_Silent_p.L932L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	932	FH1.|Pro-rich.				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	p.L1075L(1)		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)			CAGGCATACTCCCTCTGCCCC	0.692000														45			5		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5047612	5047612	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5047612C>T	uc010xim.2	+	4	666	c.558C>T	c.(556-558)ttC>ttT	p.F186F	KDM4B_uc010xil.1_Silent_p.F186F|KDM4B_uc002mbq.4_Silent_p.F186F	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	186	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGACCACCTTCGCCTGGCACA	0.627000														60			15		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953468	38953468	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38953468C>T	uc002hvh.1	-	3	822	c.756G>A	c.(754-756)ggG>ggA	p.G252G		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	252	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.P251P(1)|p.P251L(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGAGGTCTACCCCCGGGGCCG	0.592000														63			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266420	39266420	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39266420C>T	uc001uwv.3	+	0	5248	c.4939C>T	c.(4939-4941)Cag>Tag	p.Q1647*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1647					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATGAAGATCCAGGTCTTGGC	0.493000														75			5		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40030083	40030083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40030083G>A	uc002hyg.3	-	22	2786	c.2623C>T	c.(2623-2625)Ctc>Ttc	p.L875F	ACLY_uc002hyh.3_Missense_Mutation_p.L865F|ACLY_uc002hyi.3_Missense_Mutation_p.L929F|ACLY_uc010wfx.2_Missense_Mutation_p.L919F|ACLY_uc010wfy.2_Missense_Mutation_p.L604F	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	875					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AACCAGAGGAGGCCGAGGACC	0.572000														91			8		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622176	41622176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41622176G>A	uc002opu.1	+	1	139	c.83G>A	c.(82-84)gGa>gAa	p.G28E	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.G28E|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	28					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AGAGATAAGGGAAAGCTGCCT	0.562000														157			21		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318740	31318740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:31318740G>A	uc010dmg.1	+	10	1427	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I	ASXL3_uc002kxq.2_Missense_Mutation_p.V165I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCAGAAGAGGTAGAGACTAG	0.388000														34			6		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329121	3329122	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3329121_3329122CC>AT	uc001akf.3	+	8	2442_2443	c.2360_2361CC>AT	c.(2359-2361)ccc>cAT	p.P787H	PRDM16_uc001ake.3_Missense_Mutation_p.P787H|PRDM16_uc009vlh.3_Missense_Mutation_p.P488H|PRDM16_uc001akc.3_Missense_Mutation_p.P787H	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	787	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)		CCCATCCTGCCCATGCCCAAGG	0.713000			T	EVI1	"""MDS, AML"""									37			13		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920420	4920420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:4920420C>T	uc001qng.3	+	0	2079	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	KCNA6_uc021qtr.1_Missense_Mutation_p.L405F	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	405						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGACGATTCGCTTTTTCCCAG	0.562000										HNSCC(72;0.22)				90			6		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020538	32020538	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32020538C>T	uc003nzl.2	-	25	9220	c.9018G>A	c.(9016-9018)ggG>ggA	p.G3006G		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3053	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCCAGGCCCCCCACGGTGA	0.672000														326			14		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72859054	72859054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72859054G>A	uc010wrl.2	-	11	1577	c.1490C>T	c.(1489-1491)tCt>tTt	p.S497F	GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.2_Missense_Mutation_p.S402F|FDXR_uc010wrj.2_Missense_Mutation_p.S452F|FDXR_uc002jlw.3_Missense_Mutation_p.S211F|FDXR_uc002jlx.3_Missense_Mutation_p.S460F|FDXR_uc002jly.3_Missense_Mutation_p.S454F|FDXR_uc010wrk.2_Missense_Mutation_p.S485F|FDXR_uc010wrm.2_Missense_Mutation_p.S414F|FDXR_uc002jlz.3_Missense_Mutation_p.S446F|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	454					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GTCTGAGAAAGAGACTGGCCG	0.632000														53			4		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46722884	46722884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46722884C>T	uc003cqa.2	-	12	1481	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	ALS2CL_uc003cpz.2_5'UTR|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.E430K	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	430				E -> G (in Ref. 2; BAD18448).	endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTGTACACCTCGTCGGTGCTG	0.652000														94			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542435	179542435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179542435C>T	uc021vsy.1	-	142	30697	c.30472G>A	c.(30472-30474)Gaa>Aaa	p.E10158K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6819K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11085	Glu-rich.						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)			ACATATTCTTCTTCGGGAGGA	0.453000														21			4		0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558948	36558948	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36558948C>T	uc001bzt.3	+	5	1106	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	351						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGACAGACATCCTGGCCCAAA	0.582000														119			5		0	0	1	0	0
DPEP1	1800	broad.mit.edu	37	16	89703313	89703313	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89703313C>T	uc010cin.3	+	5	764	c.561C>T	c.(559-561)ccC>ccT	p.P187P	DPEP1_uc002fnr.4_Silent_p.P187P|DPEP1_uc002fns.4_Silent_p.P187P	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	187					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACAGCGAGCCCCAGAGCCAAG	0.647000														80			9		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139638484	139638484	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139638484C>T	uc003yvd.3	-	50	4113	c.3666G>A	c.(3664-3666)ggG>ggA	p.G1222G	COL22A1_uc011ljo.2_Silent_p.G502G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1222	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)			GGCCTTCTTTCCCCTAAAAGA	0.443000										HNSCC(7;0.00092)				22			5		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278983	47278983	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47278983G>A	uc002pfs.3	-	7	2030	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	SLC1A5_uc010xyh.2_Silent_p.L268L|SLC1A5_uc002pfq.3_Silent_p.L294L|SLC1A5_uc002pfr.3_Silent_p.L242L	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	470					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTTCTACATTGAGGACGGTAC	0.552000														57			8		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45188825	45188825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45188825G>A	uc002xsf.2	-	12	1685	c.1645C>T	c.(1645-1647)Ctc>Ttc	p.L549F	SLC13A3_uc010ghn.2_Missense_Mutation_p.L518F|SLC13A3_uc010zxx.2_Missense_Mutation_p.L451F|SLC13A3_uc010zxw.2_Missense_Mutation_p.L499F|SLC13A3_uc002xsg.2_Missense_Mutation_p.L502F|SLC13A3_uc010gho.2_Missense_Mutation_p.L467F|SLC13A3_uc002xse.2_Missense_Mutation_p.L40F|SLC13A3_uc010ghm.2_Missense_Mutation_p.L136F|SLC13A3_uc010zxv.2_Missense_Mutation_p.L134F	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	549						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTCATCAGGAGGCCTGTCCGC	0.552000														71			9		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003694	74003694	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74003694G>A	uc010wss.1	-	21	5886	c.5658C>T	c.(5656-5658)gcC>gcT	p.A1886A	EVPL_uc002jqi.2_Silent_p.A1864A|EVPL_uc010wst.1_Silent_p.A1334A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1864	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCCCCCTGTGGCCGCCTGGG	0.602000														149			11		0	0	1	0	0
TPSD1	23430	broad.mit.edu	37	16	1306629	1306629	+	Silent	SNP	C	T	T	rs35609827		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1306629C>T	uc002clb.1	+	1	204	c.195C>T	c.(193-195)ttC>ttT	p.F65F	TPSD1_uc010brm.1_Silent_p.F3F	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	65	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GGATGCACTTCTGCGGGGGCT	0.682000														94			16		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527003	43527003	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43527003C>T	uc001zrd.2	-	10	1847	c.1839G>A	c.(1837-1839)aaG>aaA	p.K613K	TGM5_uc001zrc.2_Silent_p.K270K|TGM5_uc001zre.2_Silent_p.K531K	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	613					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGTGATGATCTTGTTCACCA	0.517000														84			6		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184233505	184233505	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:184233505C>T	uc010irx.3	+	21	3578	c.3396C>T	c.(3394-3396)tcC>tcT	p.S1132S	WWC2_uc003ivk.4_Silent_p.S927S|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Silent_p.S814S|WWC2_uc003ivn.4_Silent_p.S647S|WWC2_uc010irz.3_Silent_p.S473S|WWC2_uc003ivo.4_Silent_p.S260S	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1132										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGAACAGTCCAAAGAAGAGC	0.478000														100			6		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813791	42813791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42813791C>T	uc002oti.3	+	1	433	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C	PRR19_uc002oth.1_Missense_Mutation_p.R19C|PRR19_uc002otj.3_Missense_Mutation_p.R19C	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	19										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GAAACCTGGTCGTGTCCGTCG	0.582000														84			14		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29630187	29630187	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29630187G>A	uc003aem.3	+	11	1104	c.1029_splice	c.e11+1	p.R343_splice	EMID1_uc003aen.3_Splice_Site_p.R341_splice|EMID1_uc021wnr.1_Splice_Site_p.R40_splice	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	341	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AAGGGCGAGAGAGTGAGTACC	0.627000														13			3		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890509	22890509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22890509G>A	uc002zwf.3	-	4	1666	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.P488S|PRAME_uc010gtr.3_Missense_Mutation_p.P504S|PRAME_uc002zwg.3_Missense_Mutation_p.P504S|PRAME_uc002zwh.3_Missense_Mutation_p.P504S|PRAME_uc002zwi.3_Missense_Mutation_p.P504S|PRAME_uc002zwj.3_Missense_Mutation_p.P504S|PRAME_uc002zwk.3_Missense_Mutation_p.P504S	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	504	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATGAAACAGGGGCACAGGATG	0.532000														158			19		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619947	48619947	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48619947C>T	uc003ctz.2	-	45	4565	c.4564_splice	c.e45-1	p.G1522_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1522	Triple-helical region.		G -> E (in DDEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGTGGCCCCTGAATGTAGA	0.602000														77			15		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206664990	206664990	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206664990C>T	uc001hdz.2	+	17	2321	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	IKBKE_uc001hea.2_Silent_p.F496F|IKBKE_uc009xbv.2_Silent_p.F581F	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	581					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGGTGAATTTCAGTCATTTAG	0.527000														50			10		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468838	160468838	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:160468838C>T	uc003qta.3	+	16	2392	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	748					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGATAACTCCACCTACAACT	0.542000														70			13		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35048896	35048896	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35048896C>T	uc003ojx.4	+	16	2812	c.2670C>T	c.(2668-2670)gaC>gaT	p.D890D	ANKS1A_uc011dst.2_Silent_p.D430D|ANKS1A_uc010jvp.2_Silent_p.D264D	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	890						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCTCCATGACCCTGCGGCAC	0.652000														29			4		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962364	129962364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:129962364G>A	uc003vpr.3	+	10	1161	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	CPA4_uc011kpd.2_Missense_Mutation_p.D339N|CPA4_uc011kpe.2_Missense_Mutation_p.D268N	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	372					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CTGGGCATATGACAACGGCAT	0.532000														73			7		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121345646	121345646	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121345646G>A	uc003eeg.2	+	3	2229	c.2019G>A	c.(2017-2019)gaG>gaA	p.E673E		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	673					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACATTGTAGAGCACAAAACTG	0.493000														84			8		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25209303	25209304	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:25209303_25209304CC>TT	uc003xeg.3	+	26	2948_2949	c.2811_2812CC>TT	c.(2809-2814)aaccgg>aaTTgg	p.R938W	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R652W|DOCK5_uc003xei.3_Missense_Mutation_p.R508W|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	938						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAGGATCAACCGGACAGTGAT	0.535000														16			4		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120383175	120383175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120383175G>A	uc002tmb.3	+	15	1681	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PCDP1_uc010yyq.2_Missense_Mutation_p.R320Q	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	476						cilium	calmodulin binding					Colorectal(110;0.196)					ATTCAGGGACGATTATTCAAT	0.388000														10			3		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558932	140558932	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140558932C>T	uc011dai.2	+	0	1562	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATATGACCGTGCTGGTGT	0.567000														99			8		0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171843	106171843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106171843G>A	uc022ccd.1	+	0	385	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.G129S|CLDN2_uc022ccc.1_Missense_Mutation_p.G129S|CLDN2_uc004emt.2_Missense_Mutation_p.G129S	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	129					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CATCCTTGGAGGCCTCCTGGG	0.512000														52			26		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64966150	64966150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64966150G>A	uc002ann.3	+	3	1097	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	366						nucleus	zinc ion binding	p.R366C(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGAAATGCGCAATGGCCGG	0.483000														89			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754586	140754586	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140754586G>A	uc003ljy.2	+	0	936	c.936G>A	c.(934-936)tcG>tcA	p.S312S	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_Silent_p.S312S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	313	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)			ATGAGGACTCGAGTTTTTATG	0.393000														110			17		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195166	201195166	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201195166C>T	uc001gwc.3	+	21	10831	c.10701C>T	c.(10699-10701)taC>taT	p.Y3567Y	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCACGAATACCACTTCAGGG	0.667000														38			5		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3129189	3129189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3129189C>T	uc021xkv.1	+	11	1746	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	534					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCACAGCTCCAGCCAGGTC	0.607000														32			4		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947691	145947691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145947691G>A	uc003zdv.4	-	4	1610	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGAACTCTTCGATGCTGAACA	0.498000														59			5		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816824	2816824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2816824C>T	uc002crk.3	+	10	6844	c.6295C>T	c.(6295-6297)Cat>Tat	p.H2099Y	SRRM2_uc002crj.1_Missense_Mutation_p.H2003Y|SRRM2_uc002crl.1_Missense_Mutation_p.H2099Y|SRRM2_uc010bsu.1_Missense_Mutation_p.H2003Y	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2099	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						AACAAGAAATCATTCTGGTTC	0.512000														121			30		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084879	10084879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10084879C>T	uc002mmq.1	-	46	3558	c.3472G>A	c.(3472-3474)Gag>Aag	p.E1158K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1158	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G1157R(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)			TCCCCTTTCTCTCCCGGAGGG	0.607000														41			9		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611004	44611004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44611004C>T	uc002oyh.2	+	5	1008	c.691C>T	c.(691-693)Ccg>Tcg	p.P231S	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	231					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TGGAGAGAAACCGTTCAAATG	0.423000														71			11		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385973	65385973	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65385973C>T	uc001oey.2	+	5	1140	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	380						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCTCCTGGTCGTGCGGCCCA	0.682000														14			5		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540298	187540298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187540298G>A	uc003izf.3	-	9	7630	c.7442C>T	c.(7441-7443)aCt>aTt	p.T2481I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2481	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCAATTACAGTTACATGAAC	0.478000										HNSCC(5;0.00058)				174			44		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454340	48454340	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48454340G>A	uc003csw.2	-	24	4935	c.4665C>T	c.(4663-4665)acC>acT	p.T1555T	PLXNB1_uc003cst.2_Silent_p.T5T|PLXNB1_uc003csu.2_Silent_p.T1372T|PLXNB1_uc003csx.2_Silent_p.T1555T	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1555					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGGTCACTGGTGAGATCGG	0.582000														66			5		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54528164	54528164	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:54528164G>A	uc001jjt.3	-	3	545	c.480C>T	c.(478-480)gcC>gcT	p.A160A		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	160	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGCCACAGAGGCCTGGAACT	0.498000														61			4		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157488278	157488278	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157488278C>T	uc009wsm.3	-	15	2902	c.2744_splice	c.e15-1	p.E915_splice	FCRL5_uc001fqu.3_Missense_Mutation_p.R918K	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						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)				ATTTTCTCCTCTAGGATTTGC	0.448000														82			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90211770	90211770	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:90211770C>T	uc010yts.2	+	36		c.4626C>T								Parts of antibodies, mostly variable regions.																		TCTCTTCCTCCTGCTACTCTG	0.517000														60			4		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74915493	74915493	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:74915493C>T	uc001owb.3	+	13	2393	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	SLCO2B1_uc010rrr.2_Silent_p.F522F|SLCO2B1_uc010rrs.2_Silent_p.F550F|SLCO2B1_uc001owc.3_Silent_p.F439F|SLCO2B1_uc001owd.3_Silent_p.F644F	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	666					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGATCTGCTTCGCCTTAGTTT	0.552000														65			4		0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54976536	54976536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:54976536C>T	uc001sgg.2	-	3	398	c.227G>A	c.(226-228)aGg>aAg	p.R76K		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA.	76					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						GGGTGTGATCCTTGTCATCTT	0.562000														83			4		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5990116	5990116	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5990116C>T	uc003git.2	-	0		c.1259G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GCCCCTGAGCCACAGAACACC	0.542000														30			4		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731719	50731719	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:50731719C>T	uc002lfe.2	+	9	2323	c.1707C>T	c.(1705-1707)tcC>tcT	p.S569S	DCC_uc010xdr.1_Silent_p.S417S|DCC_uc010dpf.2_Silent_p.S224S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	569	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGGTGTCCACAGGAAAAG	0.473000														38			5		0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43529915	43529916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:43529915_43529916CC>TT	uc003job.3	-	9	1565_1566	c.1318_1319GG>AA	c.(1318-1320)gga>AAa	p.G440K	PAIP1_uc003joa.3_Missense_Mutation_p.G361K|PAIP1_uc003joc.3_Missense_Mutation_p.G328K	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	440	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAAATCTGTTCCATTTTCTTCA	0.347000														34			5		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887587	12887587	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12887587C>T	uc001auk.2	-	2	466	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	90										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGTTTTGTTCCTCTTGGCAT	0.483000														244			66		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86260899	86260899	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:86260899A>T	uc002sqs.3	-	27	4425	c.4046T>A	c.(4045-4047)cTt>cAt	p.L1349H	POLR1A_uc010ytb.2_Missense_Mutation_p.L715H|POLR1A_uc002sqt.1_Missense_Mutation_p.L372H	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1349					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCCATCAGAAGTTTAAAGAA	0.463000														25			5		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161135152	161135152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161135152C>T	uc010pkc.2	+	13	1990	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	USP21_uc010pkd.2_Missense_Mutation_p.S538F|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	538					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTAGTGTCTCCCCTGTCAGT	0.532000														43			6		0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41170058	41170058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41170058G>A	uc002icm.1	-	2	881	c.761C>T	c.(760-762)cCt>cTt	p.P254L	VAT1_uc010cyw.1_Missense_Mutation_p.P120L|VAT1_uc010whk.1_Missense_Mutation_p.P186L	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	254						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCCACCTTTAGGGGAAATCTT	0.552000														60			8		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39752126	39752126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39752126C>T	uc001rly.3	-	7	1489	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	KIF21A_uc001rlx.3_Missense_Mutation_p.E357K|KIF21A_uc001rlz.3_Missense_Mutation_p.E357K|KIF21A_uc010skl.2_Missense_Mutation_p.E357K	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	357					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTAACGTTTCCATAAAGTCT	0.393000														63			4		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187047	62187047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62187047G>A	uc002yfj.3	+	1	123	c.31G>A	c.(31-33)Gac>Aac	p.D11N	C20orf195_uc021wgc.1_Missense_Mutation_p.D11N	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	11										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTGGGCCTGGACAAGATGAA	0.652000														25			5		0	0	1	0	0
C10orf10	11067	broad.mit.edu	37	10	45473456	45473456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45473456G>A	uc001jbr.4	-	1	313	c.23C>T	c.(22-24)tCc>tTc	p.S8F	RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.S8F	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA.	8						mitochondrion				lung(1)	1						ATGGGCCACGGAGAGCAGAAG	0.642000														81			12		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824625	114824625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:114824625C>T	uc003ibq.1	-	1	1493	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ARSJ_uc010imu.1_Missense_Mutation_p.G202E|ARSJ_uc010imv.1_Missense_Mutation_p.G30E	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	202						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ATCCCCACTTCCCAAAAGGGA	0.433000														98			6		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99042367	99042367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:99042367C>T	uc001vnh.3	+	9	1251	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	FARP1_uc001vnj.3_Missense_Mutation_p.R338W	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	338					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GTCATCATTTCGGTTCAGGTG	0.532000														94			7		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469981	72469982	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72469981_72469982CC>TT	uc002jkv.3	+	1	668_669	c.347_348CC>TT	c.(346-348)ccc>cTT	p.P116L	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	116	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.P116S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTTCATGATCCCGTTGTCGAGG	0.559000														47			13		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752419	2752419	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2752419G>A	uc003smr.1	+	6	1765	c.1404G>A	c.(1402-1404)ggG>ggA	p.G468G	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.G217G	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	468							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGTGCTGGGGGACAAGTTCT	0.662000														61			4		0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74351598	74351598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:74351598G>A	uc003phn.4	-	2	469	c.341C>T	c.(340-342)tCc>tTc	p.S114F	SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Silent_p.F12F	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	114					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAAAAAAAGGAACCGAGAAT	0.418000														91			7		0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38561937	38561937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38561937G>A	uc003ooa.4	-	3	928	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	BTBD9_uc010jwv.3_Missense_Mutation_p.H59Y|BTBD9_uc003ony.4_Missense_Mutation_p.H50Y|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.H118Y	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	118					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CCATATTTATGAGCCAGGCTC	0.448000														197			15		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788729	117788729	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:117788729C>T	uc004eqp.2	+	42	4923	c.4860C>T	c.(4858-4860)acC>acT	p.T1620T	DOCK11_uc004eqq.2_Silent_p.T1399T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1620	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAGGAAAACCTGGCTTGATA	0.428000														27			6		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319674	31319674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:31319674G>A	uc010dmg.1	+	10	2361	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	ASXL3_uc002kxq.2_Missense_Mutation_p.R476K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	769	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCAGCAAAGAAAGTCACCT	0.478000														43			6		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675974	62675974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62675974C>T	uc021ooc.1	+	4	1963	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	L1TD1_uc001dae.4_Missense_Mutation_p.P510S	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	510										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAAGAAATTCCCTTTAGTTA	0.453000														30			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947468	237947468	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	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														30			5		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408594	40408594	+	Silent	SNP	G	A	A	rs141092836		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40408594G>A	uc002omp.4	-	7	4253	c.4245C>T	c.(4243-4245)ttC>ttT	p.F1415F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1415	VWFD 3.					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)			AGGAGTTGCCGAACTCATTGG	0.632000														74			10		0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038389	22038389	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22038389G>A	uc010tmb.2	-	0	487	c.487C>T	c.(487-489)Cta>Tta	p.L163L		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CGGAAGGTTAGGATGGCCTGG	0.582000														76			5		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767531	88767531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:88767531C>T	uc021xpx.1	+	3	1616	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	MEPE_uc021xpu.1_Missense_Mutation_p.S504F|MEPE_uc021xpv.1_Missense_Mutation_p.S391F|MEPE_uc021xpw.1_Missense_Mutation_p.S391F|MEPE_uc010ikn.3_Missense_Mutation_p.S391F|MEPE_uc003hqy.3_Missense_Mutation_p.S504F|MEPE_uc021xpy.1_Missense_Mutation_p.S391F	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	504					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGGTTTAGTTCCCGTAGAAGG	0.507000														42			7		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990302	63990302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:63990302C>T	uc003peh.3	-	3	1188	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	385					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.W384S(1)|p.G385R(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTCATTGTATCCCCATGTTGT	0.463000														72			8		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649261	51649261	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51649261C>T	uc002pvv.1	+	3	979	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	SIGLEC7_uc002pvw.1_Silent_p.L211L|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAAACCCTCTGGTACTGGA	0.592000														83			7		0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289876	46289876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46289876G>A	uc002pdj.1	-	2	924	c.878C>T	c.(877-879)tCg>tTg	p.S293L	DMWD_uc021uwc.1_5'UTR|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	293					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCATCGGGCGAGAAGGCGAA	0.647000														40			5		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580448	7580448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7580448G>A	uc003mxp.1	+	22	4304	c.4025G>A	c.(4024-4026)tGg>tAg	p.W1342*	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Nonsense_Mutation_p.W1342*	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1342	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGCGCCGCTGGGAATATGAA	0.448000														48			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106845390	106845390	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106845390C>T	uc021ser.1	-	488		c.14532G>A								Parts of antibodies, mostly variable regions.																		CAGGGTGTTCCTGGAATTGTC	0.527000														108			10		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313362	54313362	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54313362G>A	uc002qcj.4	-	2	1771	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.F517F|NLRP12_uc002qci.4_Silent_p.F517F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.F517F	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	517	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGAATTCCTGGAAACTCAAGT	0.537000														109			19		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683691	95683691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:95683691G>A	uc003ygq.4	+	10	1427	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	ESRP1_uc003ygr.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygs.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygt.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygu.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygv.3_Missense_Mutation_p.R255Q|ESRP1_uc003ygw.3_Missense_Mutation_p.R255Q	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	415					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTGCTGAATCGATTCTCCTCG	0.478000														243			16		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71523182	71523182	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:71523182A>G	uc009zrt.1	-	6	751	c.589T>C	c.(589-591)Ttc>Ctc	p.F197L	TSPAN8_uc001swk.1_Missense_Mutation_p.F197L|TSPAN8_uc001swj.1_Missense_Mutation_p.F197L	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	197					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCTTTTATGAAAGAAATACAG	0.259000														52			5		0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716743	40716744	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40716743_40716744CC>TT	uc010cyj.3	+	5	1353_1354	c.1151_1152CC>TT	c.(1150-1152)ccc>cTT	p.P384L	COASY_uc002hzz.3_Missense_Mutation_p.P355L|COASY_uc002iab.3_Missense_Mutation_p.P60L|COASY_uc002iad.3_Missense_Mutation_p.P355L|COASY_uc002iac.3_Missense_Mutation_p.P355L|COASY_uc002iae.3_Missense_Mutation_p.P150L|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	355	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCAGAGCTCCCCACATGTCTCT	0.574000														119			20		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826824	25826824	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25826824G>A	uc003nfh.4	-	2	188	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.F24F|SLC17A1_uc010jqc.1_Silent_p.F22F	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	24					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTGCACAAGGAAAGACAATC	0.413000														19			6		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739938	12739939	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12739938_12739939CC>TT	uc002mua.2	+	3	1757_1758	c.1595_1596CC>TT	c.(1594-1596)gcc>gTT	p.A532V	ZNF791_uc010xml.1_Missense_Mutation_p.A500V|ZNF791_uc010dyu.1_Missense_Mutation_p.A423V|ZNF791_uc010xmm.1_Missense_Mutation_p.A423V	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTGGGAAGGCCTTTAGTCTTC	0.396000														85			10		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818850	101818850	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:101818850C>T	uc001pgm.3	+	3	753	c.483C>T	c.(481-483)tcC>tcT	p.S161S	KIAA1377_uc001pgn.3_Silent_p.S117S|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	161							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTCCCTTTTCCCGTAGACCAA	0.343000														16			3		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48525002	48525002	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:48525002G>A	uc003gyh.1	-	53	8042	c.7437C>T	c.(7435-7437)aaC>aaT	p.N2479N	FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Silent_p.N1175N|FRYL_uc003gyi.1_Silent_p.N1367N|FRYL_uc003gyj.1_Silent_p.N774N	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2479					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATTGGTGAGGTTCAGGCTGG	0.522000														36			6		0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126379116	126379116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:126379116C>T	uc003yrw.2	+	7	961	c.733C>T	c.(733-735)Cat>Tat	p.H245Y		NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA.	245					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AAGACATCGTCATTCCGAGTA	0.498000														143			13		0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061600	12061600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:12061600G>A	uc002dbv.3	+	2	669	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.E102K	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	151					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						AGCTATGGAGGAAGGCGCAAC	0.498000			T	IL2	intestinal T-cell lymphoma									46			10		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7251514	7251514	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7251514G>A	uc002ggd.2	+	15	1688	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	494	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CCATGGCAGTGAAGAAACCAG	0.607000														11			4		0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26687822	26687822	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26687822C>T	uc010wah.1	+	4	490	c.483C>T	c.(481-483)ttC>ttT	p.F161F	TMEM199_uc002hba.3_Silent_p.F161F	NM_152464	NP_689677	Q8N511	TM199_HUMAN	Homo sapiens transmembrane protein 199 (TMEM199), mRNA.	161						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTGCTGCCTTCGTCTGCACTT	0.527000														91			7		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915913	126915913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126915913C>T	uc003eji.1	+	1	625	c.385C>T	c.(385-387)Cct>Tct	p.P129S						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CAACCTATTTCCTTTCCCCAT	0.607000														165			30		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691067	44691067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44691067G>A	uc002xrd.3	-	6	2140	c.1612C>T	c.(1612-1614)Cca>Tca	p.P538S	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.P538S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	538	Transcription activation.				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)				TGTACACTTGGATTGTCAAAG	0.572000														34			4		0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228363073	228363073	+	Silent	SNP	C	T	T	rs142734560	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228363073C>T	uc001hsl.4	+	2	1019	c.930C>T	c.(928-930)ttC>ttT	p.F310F	IBA57_uc010pvw.2_Silent_p.F117F	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	310					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						TGGGCAAGTTCAGGGCTGGCC	0.637000														52			18		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063279	194063279	+	Silent	SNP	C	T	T	rs141207947		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194063279C>T	uc003fts.3	-	1	243	c.153G>A	c.(151-153)acG>acA	p.T51T	CPN2_uc021xix.1_Silent_p.T51T	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	51					protein stabilization	extracellular region	enzyme regulator activity	p.T51T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGATGTTTTTCGTATATGGCG	0.537000														88			5		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769545	51769545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51769545C>T	uc001jix.4	+	7	2058	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	DQ577099_uc021pqm.1_5'Flank	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	554					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GCAGACAAAACCCTCAGAAAA	0.532000														115			16		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56320356	56320356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56320356C>T	uc002ivt.3	+	1	332	c.16C>T	c.(16-18)Cat>Tat	p.H6Y	LPO_uc010dco.2_Missense_Mutation_p.H6Y|LPO_uc010wnr.1_Missense_Mutation_p.H6Y|LPO_uc010wns.2_5'UTR|LPO_uc010dcp.3_Missense_Mutation_p.H6Y	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	6					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGTCCTTCTCCATCTCCCAGC	0.537000														187			7		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746092	110746092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:110746092G>A	uc003puf.3	-	7	1785	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	SLC22A16_uc003pue.3_Missense_Mutation_p.S554F	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	573					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACCAAGACCAGAATCCCTGGG	0.408000														76			6		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513786	165513786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165513786C>T	uc001gde.2	+	0	309	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	85						integral to membrane		p.C84F(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTTGGACTGTCAGAACAACCG	0.493000														118			26		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067337	103067337	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103067337T>C	uc002tbx.3	+	10	1724	c.1240T>C	c.(1240-1242)Tat>Cat	p.Y414H	IL18RAP_uc010fiz.3_Missense_Mutation_p.Y272H	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	414	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTTCGTATCCTATGCAAAATG	0.338000														65			6		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90438337	90438337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90438337G>A	uc001kfg.2	+	9	1210	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	LIPF_uc001kfh.2_Missense_Mutation_p.E343K|LIPF_uc010qmt.2_Missense_Mutation_p.E376K|LIPF_uc010qmu.2_Missense_Mutation_p.E333K	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	366					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTACCACAAGGAGATTCCTTT	0.418000														45			5		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183225903	183225904	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:183225903_183225904GG>AC	uc003flr.3	-	2	910_911	c.852_853CC>GT	c.(850-855)tgccca>tgGTca	p.284_285CP>WS	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.282_283CP>WS	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	284										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGACCTCTGGGCACTGCCTGA	0.530000														28			9		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046887	32046887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32046887C>T	uc003nzl.2	-	10	4500	c.4298G>A	c.(4297-4299)gGg>gAg	p.G1433E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1520					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTACTTGTGCCCGGGCTCTAG	0.687000														197			37		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409980	159409980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159409980G>A	uc010piv.2	+	0	469	c.432G>A	c.(430-432)atG>atA	p.M144I	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	144					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGAGATACATGGTTATTATGA	0.468000														35			9		0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17880975	17880975	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:17880975C>T	uc021trj.1	+	3	442	c.63C>T	c.(61-63)gcC>gcT	p.A21A	LRRC48_uc010vxe.2_Silent_p.A21A|LRRC48_uc021tri.1_Silent_p.A21A|LRRC48_uc021trk.1_Silent_p.A21A	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	21						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCAAGCTGGCCGTCGGGGACC	0.602000														31			7		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56342222	56342222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:56342222G>A	uc003pcy.4	-	71	13835	c.13727C>T	c.(13726-13728)aCc>aTc	p.T4576I		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6988					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCCAAAACGGTGTCGCCCAT	0.453000														68			7		0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95497136	95497136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:95497136G>A	uc003hti.3	+	4	812	c.661G>A	c.(661-663)Gca>Aca	p.A221T	PDLIM5_uc003htf.3_Intron|PDLIM5_uc003htg.3_Missense_Mutation_p.A112T|PDLIM5_uc011cdx.1_Missense_Mutation_p.A112T|PDLIM5_uc003htj.3_Intron|PDLIM5_uc003htk.3_Missense_Mutation_p.A112T|PDLIM5_uc011cdy.2_Missense_Mutation_p.A99T|PDLIM5_uc003hth.3_Missense_Mutation_p.A112T	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	221					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCAGGAGCTAGCAGAGGGACA	0.507000														21			5		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224571	172224571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:172224571G>A	uc003fid.3	-	4	680	c.557C>T	c.(556-558)tCc>tTc	p.S186F	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	186					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.Y185C(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTATGTTTGGGAATAGATGTA	0.383000														61			4		0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38051693	38051693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38051693G>A	uc003chm.3	-	6	1483	c.1129C>T	c.(1129-1131)Cac>Tac	p.H377Y	PLCD1_uc003chn.3_Missense_Mutation_p.H356Y	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	356	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTATAGCCGTGGTAGATGATT	0.607000														72			9		0	0	1	0	0
PAGE3	139793	broad.mit.edu	37	X	55290291	55290291	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:55290291C>T	uc022bxs.1	-	1		c.241G>A			PAGE3_uc011mon.2_Non-coding_Transcript					Homo sapiens P antigen family, member 3 (prostate associated) (PAGE3), non-coding RNA.											endometrium(1)|kidney(1)|lung(1)	3						TCTTGATCATCTCTTCTTTCT	0.338000														15			6		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310494	57310494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57310494G>A	uc021qjh.1	+	0	381	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	127										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AGAGGCTGAGGAAAAGGAGAG	0.512000														6			4		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590418	156590418	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156590418C>T	uc003lwn.3	-	1	958	c.858G>A	c.(856-858)ggG>ggA	p.G286G		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	286	Ala-rich.					nucleus		p.G286G(2)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATTGCTGCCCCTGCTATTG	0.567000														167			12		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31760544	31760544	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31760544A>G	uc003nxe.3	-	3	1074	c.651T>C	c.(649-651)tcT>tcC	p.S217S	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	217	GST C-terminal.				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)	CTGGCTGATGAGAGAGAGGCC	0.532000														108			11		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204913	10204913	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10204913C>T	uc002gmk.1	-	39	5865	c.5775G>A	c.(5773-5775)agG>agA	p.R1925R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1925					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCTCTTGGCCCTCAGCTTGT	0.587000														100			6		0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100883	3100883	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3100883A>G	uc002fvd.1	+	0	71	c.71A>G	c.(70-72)aAt>aGt	p.N24S		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CAAGAACAGAATAATGTCTTC	0.413000														64			4		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218947958	218947958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218947958G>A	uc010fvl.2	+	10	1999	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	RUFY4_uc002vgw.3_Missense_Mutation_p.R321K	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	494							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCATGAAGAGGCGGGTGTTG	0.587000														70			7		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22891872	22891872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22891872G>A	uc001wdu.2	+	1	249	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Splice_Site_p.D62_splice|AK125397_uc001wdt.1_Intron					SubName: Full=HDV102S1; Flags: Fragment;																		GAAGACCCAAGGTAACACAAT	0.458000														17			10		0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197004445	197004445	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197004445G>A	uc002utk.3	-	6	1059	c.735C>T	c.(733-735)ctC>ctT	p.L245L	STK17B_uc010fsh.3_Silent_p.L245L	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	245	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.L245L(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GAGAAATATTGAGGTATGTTT	0.348000														42			9		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23937634	23937634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:23937634C>T	uc002nrk.4	-	2	359	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF681_uc002nrl.4_Missense_Mutation_p.E4K|ZNF681_uc002nrj.4_Missense_Mutation_p.E4K|ZNF681_uc002nrm.1_Non-coding_Transcript	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTGGGGGTTCGGCCACCATC	0.418000														50			12		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56332314	56332314	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56332314C>T	uc002ivt.3	+	8	1564	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	LPO_uc010wns.2_Silent_p.I357I|LPO_uc010dcp.3_Silent_p.I333I|LPO_uc010dcq.3_Silent_p.I87I|LPO_uc010dcr.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	416					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCCGGAAAATCCTGGGAGCCT	0.602000														73			25		0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659271	144659271	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144659271G>A	uc003yyo.4	-	4	670	c.645C>T	c.(643-645)ttC>ttT	p.F215F	NAPRT1_uc003yym.4_Silent_p.F215F|NAPRT1_uc003yyn.4_Silent_p.F215F|NAPRT1_uc011lkh.2_Silent_p.F215F			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	215					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGAAGTGACGAAGGAGTGGG	0.672000														43			4		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468774	56468774	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56468774G>A	uc021wzo.1	-	0	402	c.262C>T	c.(262-264)Cga>Tga	p.R88*	ERC2_uc003dhr.1_Nonsense_Mutation_p.R88*	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	88						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)		TATACAGCTCGATTTGTAGCC	0.498000														87			7		0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96212846	96212846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:96212846C>T	uc004efu.4	+	15	2030	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L	DIAPH2_uc004eft.4_Missense_Mutation_p.S545L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	545	Poly-Ser.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTCTCAAGTTCATCAGGAATT	0.433000														7			3		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15702250	15702250	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15702250G>A	uc002ddr.3	-	20	4287	c.4080C>T	c.(4078-4080)ctC>ctT	p.L1360L	KIAA0430_uc002ddq.3_Silent_p.L1194L|KIAA0430_uc010uzv.2_Silent_p.L1357L|KIAA0430_uc010uzw.2_Silent_p.L1360L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1359						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATTCTGTAAGGAGATCTGTCA	0.423000														39			5		0	0	1	0	0
PEX11B	8799	broad.mit.edu	37	1	145518256	145518256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145518256G>A	uc001eny.2	+	2	594	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Missense_Mutation_p.A106T	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	120					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGAAGTGGGCCCAGCGTTC	0.453000														117			12		0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795084	40795084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:40795084C>T	uc002yxu.3	-	4	968	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	LCA5L_uc002yxv.3_Missense_Mutation_p.E219K|LCA5L_uc021wji.1_Missense_Mutation_p.E81K|LCA5L_uc002yxw.2_Missense_Mutation_p.E219K|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	219										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTCCTTTTCCTGGGATTTC	0.338000														39			9		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398945	52398945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52398945C>T	uc011bef.2	+	33	5689	c.5428C>T	c.(5428-5430)Ccc>Tcc	p.P1810S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1810					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGACCTGTTTCCCACCATCAA	0.607000														65			15		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200472	31200472	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31200472C>T	uc002ebf.3	+	8	966	c.861C>T	c.(859-861)atC>atT	p.I287I	FUS_uc002ebe.2_Silent_p.I283I|FUS_uc002ebg.3_Silent_p.I82I|FUS_uc002ebh.3_Silent_p.I286I|FUS_uc010caj.1_Intron	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	287	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ACAACACCATCTTTGTGCAAG	0.393000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									99			14		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113281573	113281573	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113281573A>G	uc001pnz.3	-	6	1529	c.1208T>C	c.(1207-1209)aTc>aCc	p.I403T	DRD2_uc010rwv.2_Missense_Mutation_p.I402T|DRD2_uc001poa.4_Missense_Mutation_p.I403T|DRD2_uc001pob.4_Missense_Mutation_p.I374T	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	403					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GACAGGCGGGATGTTGCAGTC	0.572000														61			4		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12958122	12958122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12958122G>A	uc002mvm.3	+	4	474	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MAST1_uc021upp.1_5'UTR	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	116					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						CTCCTCCCAGGAGCGCCTTCA	0.662000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			7		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50544916	50544916	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:50544916G>A	uc001zxz.3	-	7	1185	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HDC_uc001zxy.3_Silent_p.F24F|HDC_uc010uff.2_Silent_p.F281F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	281					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGGGGCACAGGAAGGCAGTGC	0.562000														26			8		0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120353731	120353731	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:120353731G>A	uc001ldp.1	-	1	1165	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	PRLHR_uc021pzm.1_Silent_p.F342F	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	342					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCTCCTCGCGGAAGCTGTCGT	0.607000														45			6		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641592	104641592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:104641592C>T	uc001yos.4	+	11	2467	c.2467C>T	c.(2467-2469)Cgc>Tgc	p.R823C		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	823					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCCCTGAGCCGCCACCGGCC	0.687000														20			6		0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156832720	156832720	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156832720C>T	uc003ipf.1	+	6	754	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	230					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)	AAAAAAATATCACCAGAGGCC	0.308000														22			4		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114385141	114385141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:114385141G>A	uc009zwi.2	-	10	1549	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	RBM19_uc001tvn.4_Nonsense_Mutation_p.Q469*|RBM19_uc001tvm.3_Nonsense_Mutation_p.Q469*	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	469	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGCCTCACCTGGAATACCTGC	0.602000														55			7		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9380002	9380002	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:9380002G>A	uc003jek.2	-	2	769	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	19					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGGGTGGGCGAGTCTCCACA	0.562000														65			12		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16280539	16280540	+	Missense_Mutation	DNP	AG	GC	GC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16280539_16280540AG>GC	uc002nds.3	-	2	99_100	c.99_100CT>GC	c.(97-102)cgctac>cgGCac	p.Y34H	CIB3_uc010eae.3_Intron|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	34							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGGTCCTGGTAGCGATAGAAGA	0.569000														23			7		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606538	42606538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42606538G>A	uc003bcj.1	-	0	4908	c.4774C>T	c.(4774-4776)Cag>Tag	p.Q1592*	TCF20_uc003bck.1_Nonsense_Mutation_p.Q1592*	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCCTCGGCTGGGCCCCAGGC	0.517000														103			5		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159783291	159783291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159783291C>T	uc001fud.4	+	6	1064	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	FCRL6_uc001fuc.2_Missense_Mutation_p.S348F|FCRL6_uc009wsz.1_Missense_Mutation_p.S246F|FCRL6_uc009wta.3_Missense_Mutation_p.S341F	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	341						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCCTTCCATCCCAGATACCA	0.562000														58			9		0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100183020	100183020	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100183020G>A	uc001dsh.1	-	10	1784	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	394	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	p.R393R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTGGCTTGAAGAACCGGGCAA	0.408000														86			4		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42195097	42195097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:42195097C>T	uc002xkv.3	+	0	361	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	SGK2_uc002xkr.3_Intron|SGK2_uc010ggm.3_Intron|SGK2_uc002xkt.3_Intron|SGK2_uc002xku.3_Intron|SGK2_uc002xkq.1_Intron	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	48					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGCCTGCTCCTCCCTGTCCC	0.617000														82			7		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893709	75893709	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:75893709C>T	uc021zbv.1	-	7	1184	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.G383G|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Silent_p.G41G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	383	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGTCTGAGGCCCCACACTCA	0.507000														29			6		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92105548	92105548	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92105548G>A	uc001xzs.1	-	15	1619	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	CATSPERB_uc010aub.1_Silent_p.F15F	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	493					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTATAATGTGAAAATTCTCT	0.398000														14			3		0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14124359	14124359	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:14124359G>A	uc002kst.2	-	1	333	c.120C>T	c.(118-120)ctC>ctT	p.L40L	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Non-coding_Transcript	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CCAGGGAGACGAGGTTTCTGT	0.413000														41			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188109	140188109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140188109C>T	uc003lhi.2	+	0	1438	c.1337C>T	c.(1336-1338)gCt>gTt	p.A446V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A446V|PCDHAC2_uc011daa.2_Missense_Mutation_p.A446V	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	460	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I446M(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)			GTGGAGGTGGCTGATGTGAAC	0.642000														73			12		0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990244	990244	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:990244C>T	uc002lqm.1	+	3	503	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	159										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGACCCCTCCAGGATTCCGG	0.726000														21			4		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48688549	48688549	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:48688549C>T	uc001crn.2	+	0	193	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.F47F|SLC5A9_uc010omt.1_Silent_p.F40F|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	47						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ACTTTGTCTTCGTCATTGCTG	0.602000														24			4		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19977361	19977361	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:19977361C>T	uc002wro.2	+	10	2535	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L	RIN2_uc010gcu.2_Silent_p.L314L|RIN2_uc010gcv.2_Silent_p.L541L	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	747	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGCACTTTCTCTGATAAAGAA	0.522000														29			5		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598300	31598300	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31598300G>A	uc002rnv.1	-	14	1627	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	516				FFF -> LLL (in Ref. 3; AAA75287).	purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAACTTGAAGAAGAAGCTGA	0.597000														82			29		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6749307	6749307	+	Silent	SNP	C	T	T	rs146172116		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6749307C>T	uc001qpu.1	-	7	1392	c.1344G>A	c.(1342-1344)acG>acA	p.T448T	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.T415T	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	448						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CACAGCCTTTCGTGGCAAGCC	0.562000														47			4		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398588	89398588	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89398588G>A	uc010upo.1	+	11	3146	c.2772G>A	c.(2770-2772)gaG>gaA	p.E924E	ACAN_uc010upp.1_Silent_p.E924E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	924					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGATGAAGAGAGAATTGAGT	0.577000														30			5		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44065740	44065740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44065740C>T	uc002rtn.3	-	0	219	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	27					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGGAGCCCCCTCCAGGGAG	0.647000														262			16		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15850300	15850300	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15850300G>A	uc002ddx.3	-	14	1775	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	MYH11_uc002ddv.3_Silent_p.F556F|MYH11_uc002ddw.3_Silent_p.F549F|MYH11_uc002ddy.3_Silent_p.F549F|MYH11_uc010bvg.3_Silent_p.F381F|MYH11_uc002dea.1_Silent_p.F255F	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	549	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTCTCCACGAAAGACTTGT	0.562000			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			5		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281175	15281175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15281175C>T	uc002nan.3	-	26	5157	c.5081G>A	c.(5080-5082)cGg>cAg	p.R1694Q		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1694					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)			CACGGGTTCCCGCCGGCCCTT	0.667000														44			5		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129246117	129246117	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129246117G>A	uc001qfc.4	+	1	237	c.187_splice	c.e1+1	p.G63_splice		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	63										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TTCCTGTACGGGTAAGACGCT	0.572000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		135			10		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020952	5020952	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5020952C>T	uc001qnh.3	+	1	1513	c.408C>T	c.(406-408)ttC>ttT	p.F136F	KCNA1_uc021qts.1_Silent_p.F136F	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	136					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACGAGGGCTTCATCAAGGAGG	0.637000														51			10		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169825027	169825027	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:169825027G>A	uc011cjx.2	+	14	2803	c.2592G>A	c.(2590-2592)ggG>ggA	p.G864G	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.G847G|PALLD_uc003irv.3_Silent_p.G465G|PALLD_uc003irw.3_Silent_p.G360G|PALLD_uc003irx.3_Silent_p.G73G	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1071	Interaction with ACTN.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATGATGATGGGAATTATACAA	0.463000									Pancreatic Cancer, Familial Clustering of					44			8		0	0	1	0	0
RPL26L1	51121	broad.mit.edu	37	5	172395530	172395530	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:172395530C>T	uc003mcc.3	+	2	279	c.237C>T	c.(235-237)gtC>gtT	p.V79V		NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Homo sapiens ribosomal protein L26-like 1 (RPL26L1), mRNA.	79					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAATATGTCATCTACATCG	0.498000														101			9		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72244185	72244185	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72244185A>T	uc002llq.3	+	7	1134	c.923A>T	c.(922-924)aAt>aTt	p.N308I	CNDP1_uc002lls.3_Missense_Mutation_p.N111I	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	308					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAGGAAATAAATACATACAAA	0.438000														45			6		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887787	7887787	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:7887787T>G	uc001aop.3	+	16	3022	c.2798T>G	c.(2797-2799)tTg>tGg	p.L933W	PER3_uc009vmg.1_Missense_Mutation_p.L933W|PER3_uc009vmh.1_Missense_Mutation_p.L926W|PER3_uc001aoo.3_Missense_Mutation_p.L925W|PER3_uc010nzw.2_Missense_Mutation_p.L614W	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCACCCTTGCAGTTAAAC	0.517000														58			17		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372836	135372836	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135372836G>A	uc001lno.2	-	2	270	c.165C>T	c.(163-165)gtC>gtT	p.V55V	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Silent_p.V55V|SYCE1_uc001lnn.2_Silent_p.V19V	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	55					cell division	central element		p.S54L(1)|p.S54S(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTTAATCAGGACCTCAACTC	0.592000														42			9		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016125	27016125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:27016125G>A	uc001mrd.3	+	0	498	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	18						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGTGTCAAGGCTACTTCGA	0.527000														60			4		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819267	41819267	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41819267C>T	uc001zod.3	-	14	1871	c.1747_splice	c.e14-1	p.V583_splice		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	583						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)		ACTCCAGGACCTATGGGAGAC	0.552000														51			5		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9077350	9077350	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9077350G>A	uc001mhi.2	-	9	1272	c.1197C>T	c.(1195-1197)acC>acT	p.T399T	SCUBE2_uc001mhj.2_Silent_p.T399T	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	399	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTCCACAGTGGGTGAAGCCAT	0.572000														91			13		0	0	1	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13695845	13695845	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:13695845T>G	uc009vny.1	-	2	1167	c.1120A>C	c.(1120-1122)Agc>Cgc	p.S374R		NM_001099850	NP_001093260	Q5VWM3	PRA18_HUMAN	Homo sapiens PRAME family member 18 (PRAMEF18), mRNA.	374										lung(2)|ovary(1)	3	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;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)		GAGCAGCGGCTCAGGGCAGGC	0.557000														199			55		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765757	61765757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:61765757C>T	uc003xue.3	+	30	6965	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2158					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)			CCAGTCATCTCATCTGCTCAT	0.473000														20			4		0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96859049	96859049	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96859049G>A	uc002svm.4	-	3	992	c.591C>T	c.(589-591)atC>atT	p.I197I	STARD7_uc002svl.3_5'UTR	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	197	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CCTCCAGCTTGATTACCAGGG	0.413000														57			7		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89523814	89523814	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89523814C>T	uc001dmx.2	-	5	955	c.735G>A	c.(733-735)agG>agA	p.R245R		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	245					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGGCAAGCTTCCTGCGGTGAA	0.438000														110			7		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879562	37879562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37879562C>T	uc010efk.1	+	4	722	c.611C>T	c.(610-612)tCa>tTa	p.S204L	ZNF527_uc002ogf.3_Missense_Mutation_p.S172L|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCCAAAATTCAGTCATAATT	0.323000														35			9		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98645422	98645422	+	Missense_Mutation	SNP	C	T	T	rs1053814		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:98645422C>T	uc001vne.3	+	10	1090	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	IPO5_uc001vnf.1_Missense_Mutation_p.L286F|IPO5_uc010tik.1_Missense_Mutation_p.L161F|IPO5_uc010til.1_Missense_Mutation_p.L226F	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	286					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATCGTCACCCTCTCTGAGAC	0.388000														15			8		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11924018	11924018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11924018C>T	uc010yjm.2	+	9	1528	c.1475C>T	c.(1474-1476)cCt>cTt	p.P492L	LPIN1_uc010yjn.2_Missense_Mutation_p.P407L|LPIN1_uc002rbt.3_Missense_Mutation_p.P407L|LPIN1_uc002rbs.3_Missense_Mutation_p.P443L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	407					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)		GACATGGATCCTGAAGTGGCG	0.433000														169			11		0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144347	65144347	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65144347G>A	uc001odr.1	-	5	744	c.540C>T	c.(538-540)atC>atT	p.I180I	SLC25A45_uc009yqi.1_Silent_p.I118I|SLC25A45_uc001odq.1_Silent_p.I156I|SLC25A45_uc001ods.1_Silent_p.I138I|SLC25A45_uc001odt.1_Silent_p.I138I	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	180					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.G179W(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGATGAAGTAGATCCCCACCG	0.632000														141			14		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6982579	6982579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:6982579G>A	uc002knm.3	-	40	5901	c.5807C>T	c.(5806-5808)tCc>tTc	p.S1936F	LAMA1_uc010wzj.2_Missense_Mutation_p.S1412F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1936	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.E1935*(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAACAAGGGATTCTGAGAG	0.552000														104			10		0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16056306	16056306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16056306C>T	uc010obo.2	+	13	2317	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	697					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTTTGGCTTCTTTGAAGTCA	0.557000														43			12		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221723	32221723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32221723G>A	uc001btn.3	-	3	1069	c.715C>T	c.(715-717)Cca>Tca	p.P239S	BAI2_uc010ogp.2_Missense_Mutation_p.P227S|BAI2_uc010ogq.2_Missense_Mutation_p.P239S|BAI2_uc001bto.3_Missense_Mutation_p.P239S|BAI2_uc001btq.1_Missense_Mutation_p.P227S|BAI2_uc010ogr.1_Missense_Mutation_p.P227S	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	239					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGAGGGCCTGGAGATGTGGTG	0.701000														73			10		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167666	28167666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28167666G>A	uc002dpa.1	-	6	1327	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	XPO6_uc002dpb.1_Missense_Mutation_p.H262Y|XPO6_uc010vcp.1_Missense_Mutation_p.H276Y	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	276					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CGTGCAAAGTGGAAGATGGTG	0.572000														53			7		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134063089	134063089	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:134063089G>A	uc011ljd.2	-	1	331	c.253C>T	c.(253-255)Cga>Tga	p.R85*	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Nonsense_Mutation_p.R45*|SLA_uc011lje.2_Nonsense_Mutation_p.R62*|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Nonsense_Mutation_p.R62*|SLA_uc010mdy.1_Nonsense_Mutation_p.R45*|SLA_uc010mdz.1_Nonsense_Mutation_p.R45*|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	45	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTCCCCTCGGCGGAATATC	0.507000														52			10		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39448701	39448701	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39448701C>T	uc001uwv.3	+	17	8568	c.8259C>T	c.(8257-8259)ggC>ggT	p.G2753G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2753					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTCCATGGCTTATTTGTGC	0.493000														76			5		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565236	58565236	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58565236G>A	uc002qrc.1	+	5	1291	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCCACCGAGGAAGAAAGCCC	0.667000														30			4		0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41223735	41223735	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41223735C>T	uc001zng.2	+	3	765	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	143					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		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)		TCAGCAAGATCGCCATCCAGG	0.612000														11			4		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33026293	33026293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33026293G>A	uc010geu.1	+	8	851	c.659G>A	c.(658-660)gGa>gAa	p.G220E	ITCH_uc002xak.2_Missense_Mutation_p.G179E|ITCH_uc010zuj.1_Missense_Mutation_p.G69E	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	220					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGCACAAATGGATCAGATGAC	0.423000														48			6		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773448	151773448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151773448G>A	uc001ezf.1	-	1	1923	c.1733C>T	c.(1732-1734)tCt>tTt	p.S578F	LINGO4_uc021oyu.1_Missense_Mutation_p.S578F	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	578						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTATCCCCAGAGGGCCGAGG	0.552000														79			7		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318767	3318767	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3318767C>T	uc003ggw.3	+	1	1774	c.870C>T	c.(868-870)gtC>gtT	p.V290V	RGS12_uc003ggu.2_Silent_p.V290V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.V290V|RGS12_uc003ggx.1_Silent_p.V290V	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	290	PID.					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)		AGGCTGGAGTCGTGGCCGAGT	0.617000														45			9		0	0	1	0	0
X06774	0	broad.mit.edu	37	7	38370126	38370126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:38370126C>T	uc010kxj.1	-	1	308	c.172G>A	c.(172-174)Gag>Aag	p.E58K	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		GCCTTCCCCTCCTGGTGTAGG	0.483000														41			5		0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926305	172926305	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:172926305C>T	uc002uhk.3	+	1	193	c.120C>T	c.(118-120)ttC>ttT	p.F40F	METAP1D_uc010zdw.2_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	40					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GAAGAAATTTCTTTTTTCGGA	0.388000														183			19		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674981	39674981	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39674981C>T	uc002hwy.3	-	0	290	c.99G>A	c.(97-99)ggG>ggA	p.G33G	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	33	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGAGAGACTCCCCCCACCAA	0.587000														63			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719964	140719964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140719964G>A	uc003ljk.2	+	0	1611	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.A476T	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	478	Cadherin 5.				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)			CTCAGTGACGGCCCATGACCC	0.542000														66			7		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349601	48349601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48349601C>T	uc003toq.2	+	23	9403	c.9379C>T	c.(9379-9381)Cat>Tat	p.H3127Y	ABCA13_uc010kys.1_Missense_Mutation_p.H201Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3127					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAAATCCTTCATCTCCTGCT	0.473000														92			10		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116730317	116730317	+	Missense_Mutation	SNP	G	A	A	rs36096777		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:116730317G>A	uc001ppy.3	-	18	2147	c.2111C>T	c.(2110-2112)gCt>gTt	p.A704V	SIK3_uc001ppz.3_Missense_Mutation_p.A603V|SIK3_uc001pqa.3_Missense_Mutation_p.A704V|SIK3_uc001ppw.3_Missense_Mutation_p.A121V|SIK3_uc001ppx.3_Missense_Mutation_p.A142V|SIK3_uc001pqb.3_Missense_Mutation_p.A7V	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	704	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AGAAGATGCAGCCCCTGGAGA	0.527000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		113			12		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30886664	30886664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30886664C>T	uc011dmz.2	+	10	1217	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	VARS2_uc003nsc.2_Missense_Mutation_p.A349V|VARS2_uc011dmx.2_Missense_Mutation_p.A349V|VARS2_uc011dmy.2_Missense_Mutation_p.A209V|VARS2_uc011dna.2_Missense_Mutation_p.A349V|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'UTR|VARS2_uc010jsg.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	349					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGGCTGTGGCCGTTCATCCA	0.527000														48			6		0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1163951	1163951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1163951G>A	uc001adh.4	-	1	552	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	SDF4_uc001adi.4_Missense_Mutation_p.R75C|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	75					UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGAAGCCGCGATTGAGGTGC	0.612000														58			4		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771812	143771812	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143771812T>C	uc011ktx.2	+	0	500	c.500T>C	c.(499-501)tTc>tCc	p.F167S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCACTGTCCTTCTGTGGACCC	0.433000														116			9		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590593	24590593	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24590593C>T	uc001wlv.3	+	12	1546	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	DCAF11_uc001wlw.3_Silent_p.L422L|DCAF11_uc001wlz.3_Silent_p.L322L|DCAF11_uc001wly.3_Silent_p.L378L|DCAF11_uc010tny.2_Silent_p.L289L|DCAF11_uc001wmc.3_Silent_p.L322L|DCAF11_uc001wmb.4_Silent_p.L396L|DCAF11_uc001wma.4_Silent_p.L422L	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	422						CUL4 RING ubiquitin ligase complex	protein binding										AGCTGAAGCTCCCAGGGGACA	0.577000														90			5		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160074104	160074104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160074104C>T	uc002uag.3	+	19	3615	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L	TANC1_uc010zcm.2_Missense_Mutation_p.P1106L|TANC1_uc010fom.1_Missense_Mutation_p.P920L|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1114						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAGGGGTTCCACCTTTGTTT	0.597000														88			13		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5837732	5837732	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5837732C>T	uc003gis.3	-	10	1622	c.1533G>A	c.(1531-1533)agG>agA	p.R511R	CRMP1_uc003giq.3_Silent_p.R397R|CRMP1_uc003gir.3_Silent_p.R392R	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	397					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.R511R(2)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TCCGCCCTTTCCTTGGGTACA	0.532000														100			14		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39776394	39776394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39776394C>T	uc003xnm.3	+	3	478	c.364C>T	c.(364-366)Cct>Tct	p.P122S		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	122					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GGAACTGCCTCCTATTTTGGT	0.373000														68			4		0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54707859	54707859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54707859G>A	uc001cxe.3	-	10	1154	c.743C>T	c.(742-744)cCc>cTc	p.P248L	SSBP3_uc001cxf.3_Missense_Mutation_p.P228L|SSBP3_uc001cxg.3_Missense_Mutation_p.P221L	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	Homo sapiens single stranded DNA binding protein 3 (SSBP3), transcript variant 1, mRNA.	248	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GTTAGGATTGGGCCAGGGTCT	0.602000														198			9		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655122	110655122	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110655122G>A	uc010mcp.3	-	2	426	c.64C>T	c.(64-66)Cga>Tga	p.R22*	SYBU_uc003yni.4_Nonsense_Mutation_p.R19*|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Nonsense_Mutation_p.R22*|SYBU_uc010mco.3_Nonsense_Mutation_p.R21*|SYBU_uc003ynl.4_Nonsense_Mutation_p.R21*|SYBU_uc010mcq.3_Nonsense_Mutation_p.R22*|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Nonsense_Mutation_p.R22*|SYBU_uc003ynm.4_Nonsense_Mutation_p.R21*|SYBU_uc003ynn.4_Nonsense_Mutation_p.R21*|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Nonsense_Mutation_p.R22*|SYBU_uc010mcu.3_Nonsense_Mutation_p.R21*|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Nonsense_Mutation_p.R22*|AX748380_uc003ynq.1_5'Flank	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	22	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						ATTCGGCTTCGAGAAATCTCC	0.483000														82			7		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15392178	15392178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15392178G>A	uc001avm.4	+	7	1432	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	KAZN_uc009vog.1_Missense_Mutation_p.G384E|KAZN_uc001avo.2_Missense_Mutation_p.G378E|KAZN_uc001avp.2_Missense_Mutation_p.G290E|KAZN_uc001avq.2_Missense_Mutation_p.G290E|KAZN_uc001avr.2_3'UTR	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	384					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GAGAAGATGGGATTCGGCTCC	0.537000														78			7		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696236	10696236	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:10696236G>A	uc002kos.2	-	42	6861	c.6687C>T	c.(6685-6687)gtC>gtT	p.V2229V	PIEZO2_uc002koq.3_Silent_p.V84V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2229						integral to membrane	ion channel activity										ACGGCCCCGGGACCTGGTCCT	0.532000														32			8		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38803816	38803816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:38803816C>T	uc001zke.4	-	7	1133	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.E181K|RASGRP1_uc010bbg.3_Missense_Mutation_p.E181K|RASGRP1_uc001zkd.4_Missense_Mutation_p.E319K	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	319	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTATTGATTTCATGTGGGACA	0.498000														11			3		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004845	74004845	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74004845G>A	uc010wss.1	-	21	4735	c.4507C>T	c.(4507-4509)Ctg>Ttg	p.L1503L	EVPL_uc002jqi.2_Silent_p.L1481L|EVPL_uc010wst.1_Silent_p.L951L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1481	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCCACCGCAGGGCTTCCGTG	0.592000														124			18		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765450	113765450	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113765450G>A	uc010yxr.2	+	3	306	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	102					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.P101L(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCGAGCCTGTGAAGTCCTTTC	0.488000														89			7		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470177	10470177	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10470177C>T	uc003wtc.3	-	3	1660	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	477					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)		CCACCCCGTCCTCCGGGGTCC	0.692000														75			8		0	0	1	0	0
WBP2	23558	broad.mit.edu	37	17	73843626	73843626	+	Silent	SNP	G	A	A	rs149635149	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73843626G>A	uc002jps.3	-	5	720	c.597C>T	c.(595-597)ccC>ccT	p.P199P	UNC13D_uc002jpp.3_5'Flank|UNC13D_uc010wsk.1_5'Flank|UNC13D_uc002jpq.1_5'Flank|WBP2_uc010wsl.2_Silent_p.P165P|WBP2_uc010wsm.2_Silent_p.P154P|WBP2_uc010wsn.1_Silent_p.P168P	NM_012478	NP_036610	Q969T9	WBP2_HUMAN	Homo sapiens WW domain binding protein 2 (WBP2), mRNA.	199	Pro-rich.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCAGGGTAGGGCGGTGGTG	0.657000														42			4		0	0	1	0	0
REP15	387849	broad.mit.edu	37	12	27850085	27850085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:27850085C>T	uc001rig.1	+	0	658	c.590C>T	c.(589-591)gCt>gTt	p.A197V		NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN	Homo sapiens RAB15 effector protein (REP15), mRNA.	197						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					GGAGGGAAGGCTGTGGCTCAG	0.493000														50			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20998678	20998678	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20998678G>A	uc010vbe.2	-	46	6975	c.6975C>T	c.(6973-6975)ttC>ttT	p.F2325F	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2325					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)		TCACCATGTTGAAAAAGACCT	0.413000														71			12		0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642195	24642195	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24642195C>T	uc001wmr.3	+	3	640	c.213C>T	c.(211-213)gcC>gcT	p.A71A	REC8_uc001wms.3_Silent_p.A71A	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	71					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCTCTCAGCCCAACTTCAGA	0.602000														109			7		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39761753	39761753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39761753G>A	uc001rly.3	-	3	952	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	KIF21A_uc001rlx.3_Missense_Mutation_p.H178Y|KIF21A_uc001rlz.3_Missense_Mutation_p.H178Y|KIF21A_uc010skl.2_Missense_Mutation_p.H178Y	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	178	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H178N(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAATCTTCATGAATTCTTATA	0.299000														51			4		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272748	52272748	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52272748C>T	uc002pxr.3	+	1	882	c.837C>T	c.(835-837)atC>atT	p.I279I	FPR2_uc002pxs.4_Silent_p.I279I|FPR2_uc010epf.3_Silent_p.I279I|FPR2_uc021uyp.1_Silent_p.I279I	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	279					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AGTACAAAATCATTGACATCC	0.498000														52			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070567	9070567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9070567C>T	uc002mkp.3	-	2	17083	c.16879G>A	c.(16879-16881)Gaa>Aaa	p.E5627K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5629	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						GAGCTGGTTTCTTCCACAGGG	0.532000														13			3		0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24738718	24738718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24738718G>A	uc001wof.3	-	4	1032	c.610C>T	c.(610-612)Cct>Tct	p.P204S	RABGGTA_uc001wog.3_Missense_Mutation_p.P204S|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	204					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACATCCTCAGGGAGGCGCCCC	0.607000														130			8		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135762906	135762906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:135762906G>A	uc004fab.3	-	14	2150	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	ARHGEF6_uc011mwd.2_Missense_Mutation_p.S436L|ARHGEF6_uc011mwe.2_Missense_Mutation_p.S409L	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	563					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGCACTACATGATGACGATGA	0.468000														20			9		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390628	48390628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48390628C>T	uc001jez.3	-	0	364	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	84	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.D84N(4)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCGAGGATCGTTCAGGGAG	0.617000														98			7		0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638023	65638023	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65638023G>A	uc001ofy.4	-	4	733	c.474C>T	c.(472-474)atC>atT	p.I158I	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	158	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		ACTCGGGCCCGATCTTGCGGT	0.622000														15			3		0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199764	44199764	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44199764C>T	uc003oww.1	+	10	1323	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	SLC29A1_uc003owu.1_Silent_p.F298F|SLC29A1_uc003owv.1_Silent_p.F298F|SLC29A1_uc003owx.1_Silent_p.F298F|SLC29A1_uc003owy.1_Silent_p.F298F|SLC29A1_uc003owz.1_Silent_p.F298F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	298					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CTGTCTGCTTCATCTTCACTA	0.512000														51			7		0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911708	100911708	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100911708G>A	uc010nnt.2	-	4	1676	c.867C>T	c.(865-867)tcC>tcT	p.S289S	ARMCX2_uc004eid.2_Silent_p.S289S|ARMCX2_uc004eie.3_Silent_p.S289S|ARMCX2_uc004eif.3_Silent_p.S289S|ARMCX2_uc004eig.3_Silent_p.S289S|ARMCX2_uc022caq.1_Silent_p.S289S	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	289						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCCATTCCGGGACCTGGTTA	0.592000														70			14		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601981	43601981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43601981C>T	uc001jal.3	+	4	1215	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	RET_uc001jak.1_Missense_Mutation_p.A342V|RET_uc010qez.1_Missense_Mutation_p.A88V	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	342					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCGGTCCAGGCCAACGGCAGC	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					27			6		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656262	34656262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34656262G>A	uc001zig.3	-	4	698	c.604C>T	c.(604-606)Cct>Tct	p.P202S	LPCAT4_uc010bav.1_3'UTR	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	202					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTGCCCTCAGGAAAGAATAGC	0.458000														124			9		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133499042	133499043	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:133499042_133499043CC>TT	uc004bzr.1	+	10	1027_1028	c.919_920CC>TT	c.(919-921)ccg>TTg	p.P307L	FUBP3_uc010mzd.1_Missense_Mutation_p.P247L	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	307	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CATGGGCCCTCCGGATCGGTGT	0.535000														68			8		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790988	133790988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:133790988G>A	uc001qgx.4	-	17	2863	c.2632C>T	c.(2632-2634)Ccc>Tcc	p.P878S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	878						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCGGCGAAGGGGAAGCCCTCG	0.657000														59			5		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288023	7288023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7288023C>T	uc001qss.3	+	2	1058	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	CLSTN3_uc001qsr.3_Missense_Mutation_p.R162C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	162	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GCTGTACGATCGCATCCTGCG	0.562000														64			6		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413716	22413716	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:22413716C>T	uc001yuf.3	+	0	255	c.15C>T	c.(13-15)ttC>ttT	p.F5F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGGTGGACTTCCTCTCTGAGA	0.512000														66			16		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101860	9101860	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9101860G>A	uc001apo.3	-	4	847	c.555C>T	c.(553-555)ctC>ctT	p.L185L	SLC2A5_uc010nzy.2_Silent_p.L126L|SLC2A5_uc010nzz.2_Silent_p.L70L|SLC2A5_uc010oaa.2_Silent_p.L141L|SLC2A5_uc010oac.2_3'UTR|SLC2A5_uc001app.4_Silent_p.L185L	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	185					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			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)		CGTTTGCAAGGAGATTCCGAA	0.587000														76			6		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629116	19629116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:19629116G>A	uc002ykv.3	+	1	761	c.370G>A	c.(370-372)Gga>Aga	p.G124R	CHODL_uc002ykr.3_Missense_Mutation_p.G83R|CHODL_uc002yks.3_Missense_Mutation_p.G83R|CHODL_uc021whr.1_Missense_Mutation_p.G83R|CHODL_uc002ykt.3_Missense_Mutation_p.G83R|CHODL_uc002yku.3_Missense_Mutation_p.G83R|CHODL_uc021whs.1_Missense_Mutation_p.G105R	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	124	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GTGGTCTGATGGAAGCAATTC	0.517000														26			5		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93709396	93709396	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:93709396G>A	uc001ybo.3	-	10	2948	c.2622C>T	c.(2620-2622)atC>atT	p.I874I	BTBD7_uc010aur.3_Silent_p.I399I|BTBD7_uc010two.2_Silent_p.I694I|BTBD7_uc001ybp.3_Silent_p.I523I	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	874										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CACCCACCGCGATGTCTGGCA	0.502000														87			9		0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13975401	13975401	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:13975401G>A	uc021zzz.1	-	5	573	c.486C>T	c.(484-486)gaC>gaT	p.D162D	ETV1_uc021zzt.1_Silent_p.D122D|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Silent_p.D104D|ETV1_uc021zzw.1_Silent_p.D122D|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Silent_p.D104D|ETV1_uc022aaa.1_Silent_p.D144D|ETV1_uc022aab.1_Silent_p.D162D|ETV1_uc003ssw.4_Silent_p.D162D|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Silent_p.D144D|ETV1_uc022aad.1_Silent_p.D144D|ETV1_uc010ktv.3_Silent_p.D31D	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	162					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGAAGGCCCGGTCAGGTTTCG	0.557000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									188			14		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697457	48697457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48697457G>A	uc003cuf.1	-	2	2821	c.2821C>T	c.(2821-2823)Cgg>Tgg	p.R941W	CELSR3_uc003cul.3_Missense_Mutation_p.R871W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	871	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		cccattggccgatcttcattc	0.507000														66			6		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32262225	32262225	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32262225T>A	uc001bts.1	-	9	2295	c.2237A>T	c.(2236-2238)gAc>gTc	p.D746V	SPOCD1_uc001btu.3_Missense_Mutation_p.D746V|SPOCD1_uc001btv.3_Missense_Mutation_p.D239V|SPOCD1_uc021oks.1_Missense_Mutation_p.D52V|SPOCD1_uc001btw.1_Missense_Mutation_p.D90V	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	746					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGTCCATGTCCCGCTGAAT	0.592000														145			19		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22102213G>A	uc010tmc.2	-	0	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	262					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)		TAAGGTAGATGAAAATACAGG	0.547000														40			4		0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43624454	43624454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43624454C>T	uc003ovx.2	+	3	688	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	RSPH9_uc003ovw.2_Missense_Mutation_p.P222S	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	222					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATGACATTCCCAAAGGTAA	0.522000									Kartagener syndrome					124			10		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186362666	186362666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:186362666C>T	uc010hyq.3	+	4	812	c.551C>T	c.(550-552)tCc>tTc	p.S184F	FETUB_uc011brz.2_Missense_Mutation_p.S36F|FETUB_uc003fqn.3_Missense_Mutation_p.S184F|FETUB_uc010hyr.3_Missense_Mutation_p.S147F|FETUB_uc010hys.3_Missense_Mutation_p.S36F|FETUB_uc003fqp.4_Missense_Mutation_p.S119F	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	184	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGAACACATCCAAGCAGTAT	0.498000														23			4		0	0	1	0	0
BTG3	10950	broad.mit.edu	37	21	18977308	18977308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:18977308G>A	uc002ykl.3	-	2	441	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	BTG3_uc002ykk.3_Missense_Mutation_p.R61C	NM_001130914	NP_001124386	Q14201	BTG3_HUMAN	Homo sapiens BTG family, member 3 (BTG3), transcript variant 1, mRNA.	61					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTATTGACACGAATACATCTA	0.373000														13			7		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216889	4216889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4216889G>A	uc010dtt.1	+	17	2008	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	ANKRD24_uc002lzs.2_Missense_Mutation_p.E549K|ANKRD24_uc002lzt.2_Missense_Mutation_p.E550K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	578										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAGGACTATGGAAGCTGAGGC	0.567000														12			5		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36973614	36973614	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36973614G>A	uc010jwp.1	+	0	192	c.21G>A	c.(19-21)gaG>gaA	p.E7E	FGD2_uc003onf.3_Silent_p.E7E|FGD2_uc011dtu.1_Silent_p.E7E|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	7					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAAGTGAGGAGAAGCTGGCAT	0.617000														42			4		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220420865	220420865	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220420865G>A	uc010fwk.3	-	13	4800	c.4486C>T	c.(4486-4488)Ctg>Ttg	p.L1496L	OBSL1_uc002vmh.1_Silent_p.L395L|OBSL1_uc010zli.1_Silent_p.L303L|OBSL1_uc010fwl.2_Silent_p.L1496L	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1496	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCATGGACAGGCGAGAGTCG	0.672000														30			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085999	9085999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9085999G>A	uc002mkp.3	-	0	6020	c.5816C>T	c.(5815-5817)tCa>tTa	p.S1939L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1939	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						TGGAATGGATGAAAAAGGCAA	0.488000														23			6		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788275	21788275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21788275C>T	uc001wag.3	+	10	1406	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	RPGRIP1_uc001wah.3_Missense_Mutation_p.P111L|RPGRIP1_uc001wai.3_Missense_Mutation_p.P111L|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.3_5'Flank|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	469					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCCCAACCTCCTGACAGGCAA	0.468000														23			4		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545943	138545943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138545943C>T	uc011kql.2	-	15	5238	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q	KIAA1549_uc011kqi.2_Missense_Mutation_p.R514Q|KIAA1549_uc011kqk.2_Missense_Mutation_p.R514Q|KIAA1549_uc011kqj.2_Missense_Mutation_p.R1730Q	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1730						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGGGTGGCTCGCCTCTCTTC	0.637000			O	BRAF	pilocytic astrocytoma									78			8		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182615970	182615970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182615970C>T	uc010pnw.1	-	6	701	c.443G>A	c.(442-444)gGa>gAa	p.G148E	RGS8_uc001gpn.1_Missense_Mutation_p.G148E|RGS8_uc001gpm.1_Missense_Mutation_p.G166E	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	148	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GTGTACTTTTCCTTGGGCTTG	0.498000														126			7		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103343331	103343331	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103343331G>A	uc002tcb.2	-	3	468	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.L73L	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	134					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGGACAAACAGAAACACATTG	0.488000														45			6		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94410215	94410215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:94410215G>A	uc001kic.3	+	20	3288	c.2980G>A	c.(2980-2982)Gag>Aag	p.E994K		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	994					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTAAGTCAAGAGCCATCTGT	0.438000														283			23		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29611517	29611517	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29611517T>C	uc003aem.3	+	3	291	c.216_splice	c.e3-1	p.S72_splice	EMID1_uc003aen.3_Splice_Site_p.S72_splice	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	72	EMI.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CTCTTTCAGCTACAGAACTGT	0.587000														59			12		0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851755	76851755	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76851755G>A	uc002jwf.3	-	4	959	c.657C>T	c.(655-657)gaC>gaT	p.D219D	TIMP2_uc002jwe.3_Silent_p.D142D|TIMP2_uc010wty.2_Silent_p.D142D	NM_003255	NP_003246	P16035	TIMP2_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA.	219							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CTGCTTATGGGTCCTCGATGT	0.592000														42			4		0	0	1	0	0
MRPL43	84545	broad.mit.edu	37	10	102739120	102739120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102739120G>A	uc010qpu.1	-	5	737	c.665C>T	c.(664-666)cCc>cTc	p.P222L	SEMA4G_uc001krv.3_Intron|SEMA4G_uc010qpt.1_Intron|SEMA4G_uc001krx.3_Intron|SEMA4G_uc001krw.2_Intron|MRPL43_uc001kry.1_Missense_Mutation_p.P180S	NM_032112	NP_115488	Q8N983	RM43_HUMAN	Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCCACTGTGGGGAGGTCTGGC	0.527000														51			4		0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84911069	84911069	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84911069C>T	uc010voh.1	+	11	1409	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fin.4_Silent_p.T394T	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	394	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTACACGACCGTTGCTCAGC	0.552000														54			13		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438787	120438787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120438787C>T	uc021vnk.1	+	0	358	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.H120Y|TMEM177_uc002tmc.1_Missense_Mutation_p.H120Y|TMEM177_uc002tmd.2_Missense_Mutation_p.H120Y|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	120						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAACACTAACCATCCCGTGGT	0.602000														247			37		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392458	74392458	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74392458G>A	uc002jrm.4	-	13	2625	c.2560C>T	c.(2560-2562)Ctg>Ttg	p.L854L	UBE2O_uc002jrn.4_Silent_p.L854L|UBE2O_uc002jrl.4_Silent_p.L458L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	854							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATGTCATCCAGAAACTTCTTC	0.552000														151			11		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102644754	102644754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:102644754G>A	uc002tbm.3	+	8	1326	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	IL1R2_uc002tbn.3_Missense_Mutation_p.G366E	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	366					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GTTTTGGGGGGAATATGGATG	0.512000														61			28		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045735	124045735	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124045735C>T	uc001lgc.1	+	4	608	c.357C>T	c.(355-357)ccC>ccT	p.P119P	BTBD16_uc001lgd.1_Silent_p.P118P	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	119										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCACACACCCCCTGAGGGAGC	0.617000														88			5		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190250	66190250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66190250G>A	uc001ohx.1	+	3	712	c.536G>A	c.(535-537)gGa>gAa	p.G179E	NPAS4_uc010rpc.1_Missense_Mutation_p.E6K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	179					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CACCCACCTGGAGCCTACTGG	0.637000														80			4		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695435	30695435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30695435C>T	uc003xil.3	-	2	7216	c.7216G>A	c.(7216-7218)Gac>Aac	p.D2406N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2406										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCGCAAGTGTCTTTTGGGTTC	0.363000														73			9		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160673464	160673464	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160673464T>A	uc002ubb.4	-	29	4307	c.4233A>T	c.(4231-4233)aaA>aaT	p.K1411N	LY75-CD302_uc010fos.3_Missense_Mutation_p.K1411N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.K1411N	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1411	C-type lectin 9.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATGTTACCTTTTTTTGAATAA	0.353000														47			5		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119837	38119837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38119837G>A	uc003atr.3	+	6	1545	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	TRIOBP_uc003atu.3_Missense_Mutation_p.R253Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R425Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R253Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	425					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)					AGAGCCACACGAGACAACCCC	0.577000														62			10		0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39267342	39267342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39267342G>A	uc003ooo.3	-	4	1001	c.860C>T	c.(859-861)tCc>tTc	p.S287F	KCNK17_uc003oop.3_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	287						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCAGCTTTGGGACTTGAAGTC	0.567000														48			7		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48688462	48688462	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:48688462G>A	uc001crn.2	+	0	106	c.54G>A	c.(52-54)agG>agA	p.R18R	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.R18R|SLC5A9_uc010omt.1_Silent_p.R11R|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	18						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ACGGGGTCAGGACTGAGACAG	0.572000														36			9		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37053562	37053562	+	Missense_Mutation	SNP	C	T	T	rs4986984	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37053562C>T	uc003cgl.3	+	7	847	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Missense_Mutation_p.R217C|MLH1_uc011ayc.2_Missense_Mutation_p.R119C|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_5'UTR|MLH1_uc010hgk.3_5'UTR|MLH1_uc010hgl.1_5'Flank	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	217			R -> C (in HNPCC2; could be a polymorphism; proficient in a mismatch repair assay; dbSNP:rs4986984).|R -> G.		mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.R217C(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GGACAATATTCGCTCCATCTT	0.358000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					47			5		0	0	1	0	0
CABP2	51475	broad.mit.edu	37	11	67287310	67287310	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67287310G>A	uc001ome.1	-	5	697	c.609C>T	c.(607-609)atC>atT	p.I203I	CABP2_uc001omc.1_Silent_p.I197I			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	197	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CGTCCTGGAGGATCTCGTCCA	0.662000														47			9		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97987229	97987229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:97987229G>A	uc001kls.4	-	4	476	c.298C>T	c.(298-300)Cca>Tca	p.P100S	BLNK_uc001kme.4_Missense_Mutation_p.P18S|BLNK_uc001klt.4_Missense_Mutation_p.P18S|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Missense_Mutation_p.P18S|BLNK_uc001klv.4_Missense_Mutation_p.P100S|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.P100S|BLNK_uc001kly.4_Missense_Mutation_p.P100S|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.P100S|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.P18S|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	100	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TGCTCTACTGGAGGCGGCTCG	0.602000														123			11		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828326	7828326	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7828326C>T	uc010dvt.3	+	1	212	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	CLEC4M_uc010xjv.1_Nonsense_Mutation_p.Q32*|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Nonsense_Mutation_p.Q32*|CLEC4M_uc010xjw.2_Nonsense_Mutation_p.Q32*|CLEC4M_uc010dvs.3_Nonsense_Mutation_p.Q31*|CLEC4M_uc010xjx.2_Intron|CLEC4M_uc002mhz.3_Nonsense_Mutation_p.Q32*|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Nonsense_Mutation_p.Q32*	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	32					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAGAGACTTTCAATTCCAGCA	0.522000														70			8		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23999037	23999037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:23999037C>T	uc001rfw.3	-	2	463	c.361G>A	c.(361-363)Ggc>Agc	p.G121S	SOX5_uc001rfx.3_Missense_Mutation_p.G108S|SOX5_uc001rfy.3_Missense_Mutation_p.G108S|SOX5_uc010siv.2_Missense_Mutation_p.G108S|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.G73S|SOX5_uc001rga.3_Missense_Mutation_p.G86S	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AAGGACTCGCCACTCTGTCGC	0.493000														22			5		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2983977	2983977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2983977C>T	uc003smv.3	-	4	887	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	185					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.N184S(2)		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)		TCCCGCTCTTCCTTCATCTTG	0.562000			Mis		DLBCL									114			10		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151235888	151235888	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:151235888T>C	uc003lut.3	-	4	820	c.533A>G	c.(532-534)cAg>cGg	p.Q178R	GLRA1_uc003lur.3_Missense_Mutation_p.Q178R|GLRA1_uc003lus.3_Missense_Mutation_p.Q95R	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	178					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATACATGTCTGGACATCCAT	0.478000														42			6		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46937283	46937283	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46937283G>A	uc003cqm.3	+	4	440	c.237G>A	c.(235-237)agG>agA	p.R79R	PTH1R_uc021wxg.1_Silent_p.R79R	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	79						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						GGAAGCCCAGGAAAGATAAGG	0.547000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			4		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30486309	30486309	+	Silent	SNP	C	T	T	rs113297228		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30486309C>T	uc010gdx.1	+	3	400	c.147C>T	c.(145-147)acC>acT	p.T49T	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.P59S|TTLL9_uc010ztp.1_Non-coding_Transcript|U1_uc021wbu.1_5'Flank	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	49	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAAGACCACCCTCATGAACA	0.537000														56			6		0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40197299	40197299	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40197299G>A	uc002omf.3	+	2	606	c.165G>A	c.(163-165)ccG>ccA	p.P55P	LGALS14_uc002omg.3_Silent_p.P26P	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	26	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CAGGGACACCGATCCTCACTT	0.493000														39			11		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26910556	26910556	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26910556G>A	uc002hbq.3	-	14	2750	c.2658C>T	c.(2656-2658)ctC>ctT	p.L886L	SPAG5_uc010waq.1_Silent_p.L291L	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	886					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTGTAGAAAGAGAGTCAGGC	0.433000														71			11		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848772	73848772	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73848772G>A	uc003xzb.3	+	2	1770	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	394					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.L393L(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)			CATTACTAGGGAAAATTGTGG	0.438000														44			5		0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124671177	124671177	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124671177G>A	uc001lgv.3	+	1	148	c.27G>A	c.(25-27)acG>acA	p.T9T		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	9						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		ATCTCAGGACGAAGATCATGA	0.488000														91			10		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123450	81123450	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:81123450C>T	uc010ijo.3	+	7	1673	c.834C>T	c.(832-834)tcC>tcT	p.S278S	PRDM8_uc003hmb.4_Silent_p.S278S|PRDM8_uc003hmc.4_Silent_p.S278S	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	278	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCAGCTGCTCCCCAGCCCAGA	0.726000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			7		0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50385296	50385296	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50385296G>A	uc003daj.1	-	9	1372	c.969C>T	c.(967-969)atC>atT	p.I323I	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	323					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTAGTCGCCTGATGAGGTTCT	0.587000														94			6		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885547	180885547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180885547C>T	uc001gok.2	+	1	375	c.308C>T	c.(307-309)cCc>cTc	p.P103L		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	103										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGAGTCCCTGCTCTGCT	0.592000														66			25		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873709	36873709	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36873709G>A	uc003cgj.3	-	20	7481	c.7233C>T	c.(7231-7233)ctC>ctT	p.L2411L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2411					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAACTCCAGGAGGGCTACTG	0.507000														110			7		0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77795495	77795495	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:77795495G>A	uc001xtj.3	+	5	654	c.372G>A	c.(370-372)gaG>gaA	p.E124E	GSTZ1_uc001xtk.3_Silent_p.E82E|GSTZ1_uc010ass.3_Silent_p.E69E|GSTZ1_uc001xtm.3_Silent_p.E69E	NM_145870	NP_001504	O43708	MAAI_HUMAN	Homo sapiens glutathione transferase zeta 1 (GSTZ1), transcript variant 1, mRNA.	124	GST C-terminal.				L-phenylalanine catabolic process|glutathione metabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AAGTGGGAGAGGAGATGCAGC	0.577000														62			5		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067039	18067039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:18067039G>A	uc003stz.3	-	0	448	c.367C>T	c.(367-369)Cat>Tat	p.H123Y		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	123					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GTGATGATATGATCCGCACCT	0.468000														69			23		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729506	106729506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:106729506G>A	uc001tln.3	+	6	1036	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	288										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCCTGGGGCCGAAAATACCTC	0.383000														27			5		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922427	17922427	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17922427C>T	uc002nhl.1	+	2	762	c.615C>T	c.(613-615)ttC>ttT	p.F205F	B3GNT3_uc010ebd.1_Silent_p.F205F|B3GNT3_uc010ebe.1_Silent_p.F205F	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	205					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.F205F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACGCCAGCTTCGTGCTCAACG	0.582000														34			12		0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984005	41984005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:41984005C>T	uc003gwk.2	+	0	293	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	66										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAGCTTGGATCCCTCCTCTTT	0.532000														34			5		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10475316	10475316	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10475316G>A	uc002moc.4	-	8	1719	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	TYK2_uc010dxe.3_Silent_p.I262I|TYK2_uc002mod.2_Silent_p.I447I	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	447					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCCCATCCCGGATGCTCATCA	0.672000														54			7		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102460584	102460584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102460584C>T	uc001yks.2	+	11	3243	c.3079C>T	c.(3079-3081)Cct>Tct	p.P1027S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1027	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AACACGGATGCCTGATGGCCC	0.438000														94			13		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36321760	36321760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36321760C>T	uc002oby.3	-	27	3736	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1194	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.D1194N(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			TGCACTTCATCGTAGAGGGGT	0.527000														90			12		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931175	94931175	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94931175T>G	uc001ydf.3	-	3	1134	c.973A>C	c.(973-975)Atc>Ctc	p.I325L	SERPINA9_uc001yde.3_Missense_Mutation_p.I225L|SERPINA9_uc010avc.3_Missense_Mutation_p.I176L|SERPINA9_uc001ydg.3_Missense_Mutation_p.I289L|SERPINA9_uc001ydh.1_Missense_Mutation_p.I325L|SERPINA9_uc001ydi.1_Missense_Mutation_p.I289L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	307					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AATCTGGGGATGAACACCTCT	0.458000														33			5		0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37786251	37786251	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37786251C>T	uc002hrz.3	+	3	661	c.192C>T	c.(190-192)ctC>ctT	p.L64L	PPP1R1B_uc010cvx.3_Intron|PPP1R1B_uc002hsb.3_Silent_p.L28L|PPP1R1B_uc002hsc.3_Silent_p.L28L	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	64					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	p.H63fs*26(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCACCATCTCAAGTCGAAGA	0.597000														37			7		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30611337	30611337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:30611337G>A	uc001iva.4	-	5	1265	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	MTPAP_uc001ivb.4_Missense_Mutation_p.S531F	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	401					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGTTTTTAAGGAATCTAGTGT	0.368000														56			6		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957493	35957493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35957493C>T	uc003jjv.2	-	4	1065	c.872G>A	c.(871-873)gGg>gAg	p.G291E	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G291E|UGT3A1_uc011cor.2_Missense_Mutation_p.G257E	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	291						integral to membrane	glucuronosyltransferase activity	p.G291>?(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGCATCCCCAAAGTTGGC	0.488000														31			4		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62254087	62254087	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:62254087G>A	uc002agz.3	-	34	3700	c.3609C>T	c.(3607-3609)ttC>ttT	p.F1203F	VPS13C_uc002aha.3_Silent_p.F1160F|VPS13C_uc002ahb.2_Silent_p.F1203F|VPS13C_uc002ahc.2_Silent_p.F1160F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1203					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATTATTCAGGAAGTTCTGTG	0.413000														7			4		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	11992146	11992146	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11992146T>C	uc001qzz.3	+	2	510	c.236T>C	c.(235-237)tTa>tCa	p.L79S		NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	79	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GAGTTTTCTTTAAGGCCAATT	0.483000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									32			13		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31337476	31337476	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31337476G>A	uc003aje.1	-	9	1946	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	256							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GCCCATGGATGAAGATCCTCA	0.597000														19			3		0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340542	160340542	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160340542C>T	uc021pbs.1	+	0	21	c.21C>T	c.(19-21)acC>acT	p.T7T	NHLH1_uc001fwa.2_Silent_p.T7T	NM_005598	NP_005589	Q02575	HEN1_HUMAN	Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA.	7					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTCAGACACCATGGAGCTGG	0.667000														54			5		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56481936	56481936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56481936G>A	uc002qmh.3	+	5	2479	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	NLRP8_uc010etg.3_Missense_Mutation_p.R803K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	803						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)		GCCACCCCTAGAATTTGGACT	0.473000														111			11		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54818742	54818742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54818742C>T	uc002qfe.3	-	6	976	c.856G>A	c.(856-858)Gat>Aat	p.D286N	LILRA5_uc002qff.3_Missense_Mutation_p.D274N	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	286					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGCCAATCCTGAAATATC	0.527000														72			5		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25581586	25581586	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25581586C>T	uc011djw.2	+	30	3293	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	LRRC16A_uc010jpy.3_Silent_p.P975P	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	975	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGAGTTGCCCTCTGAAGAGG	0.517000														19			3		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134474168	134474168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:134474168G>A	uc003yuk.2	-	8	1628	c.799C>T	c.(799-801)Cca>Tca	p.P267S	ST3GAL1_uc003yum.2_Missense_Mutation_p.P267S	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	267					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCGGTAGATGGGTATCGCCCG	0.582000														109			9		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23853900	23853900	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23853900C>T	uc001wjv.3	-	35	5387	c.5316G>A	c.(5314-5316)aaG>aaA	p.K1772K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1772					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1771L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTGCTCCTTCTTCAGCTCCT	0.622000														84			6		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10782217	10782217	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10782217G>A	uc003wtk.1	-	1	915	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	296						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGCTCTCCAGGAAGGTCTCCA	0.622000														73			10		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263087	51263087	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:51263087C>T	uc011bds.2	+	14	1283	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	420	DHR-1.					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)		CAGGTGATATCCGCAATGACC	0.468000														70			15		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259167	89259167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:89259167G>A	uc003dqy.3	+	2	536	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	EPHA3_uc003dqx.1_Missense_Mutation_p.R104Q|EPHA3_uc021xbf.1_Missense_Mutation_p.R104Q	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	104						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)		TTCACTCTACGAGACTGCAAT	0.443000										TSP Lung(6;0.00050)				41			5		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066531	73066531	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:73066531C>T	uc004ebm.1	-	0		c.6058G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CACTTTCCTTCTCTAGTGCAT	0.483000														8			3		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433814	40433814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40433814G>A	uc002omp.4	-	1	463	c.455C>T	c.(454-456)tCa>tTa	p.S152L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	152	IgGFc-binding.					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)			ATTCCTGGCTGAGGTGCCGGG	0.597000														51			6		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247592898	247592898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247592898G>A	uc001icr.3	+	5	2306	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	NLRP3_uc001ics.3_Missense_Mutation_p.S723N|NLRP3_uc001icu.3_Missense_Mutation_p.S723N|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Missense_Mutation_p.S721N	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	723					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGGTGAACAGCCACCTCACT	0.507000														118			8		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274736	160274736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:160274736C>T	uc003iqg.4	+	21	4016	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1236					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCAGGGGGATCGCGCGTCACT	0.532000														68			18		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31135152	31135152	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31135152G>A	uc002rns.3	-	14	2092	c.1452C>T	c.(1450-1452)gtC>gtT	p.V484V	GALNT14_uc002rnq.3_Silent_p.V459V|GALNT14_uc010ymr.2_Silent_p.V444V|GALNT14_uc002rnr.3_Silent_p.V479V	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	479	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ACAAGGTGATGACTGACAGGC	0.557000														80			5		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438486	120438486	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:120438486G>A	uc001eij.3	-	0	662	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	158					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGAGATAGACGACATGTTCAA	0.458000														713			51		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028227	21028227	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21028227C>T	uc010sil.2	+	6	851	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SLCO1B3_uc001rek.3_Silent_p.F262F|SLCO1B3_uc001rel.3_Silent_p.F262F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	262					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.G261G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGCTTGGTTTCCTTGTGTCTG	0.363000														62			5		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66924059	66924059	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66924059G>T	uc002jhq.3	-	9	1611	c.1271C>A	c.(1270-1272)cCa>cAa	p.P424Q	ABCA8_uc002jhp.3_Missense_Mutation_p.P424Q|ABCA8_uc010wqq.2_Missense_Mutation_p.P424Q|ABCA8_uc010wqr.2_Missense_Mutation_p.P363Q|ABCA8_uc002jhr.3_Missense_Mutation_p.P424Q	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	424						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)					TTACTCACTTGGCAAAATTTT	0.299000														3			3		1	1	1	1	0
SRL	6345	broad.mit.edu	37	16	4253225	4253225	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4253225G>A	uc002cvz.4	-	2	214	c.201C>T	c.(199-201)tcC>tcT	p.S67S	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	526	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GAGGCTTGATGGATGAGTGGT	0.567000														100			7		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208209	113208209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:113208209C>T	uc010mtz.3	-	25	4708	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	SVEP1_uc010mua.1_Missense_Mutation_p.M1457I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1457	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAGGATTTCATCCAGAAGG	0.453000														44			8		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756976	71756976	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71756976G>A	uc003kce.1	-	1	534	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGGCTGCGGGAACAGCAAAG	0.582000														165			27		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98079090	98079090	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:98079090C>T	uc001kmf.3	+	2	620	c.450C>T	c.(448-450)atC>atT	p.I150I	DNTT_uc001kmg.3_Silent_p.I150I	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	150					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TACAAAAGATCTCCCAGTATG	0.453000														22			4		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14562690	14562690	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14562690C>T	uc002myp.3	+	6	1188	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	PKN1_uc002myq.3_Silent_p.I346I	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	340	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGAGACCATCCCGTGGAACC	0.687000														28			5		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12208797	12208797	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12208797C>T	uc003bwm.3	+	10	1196	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	SYN2_uc003bwl.1_Silent_p.A344A|SYN2_uc003bwn.3_Silent_p.A22A	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	348					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	p.S343N(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCAGATTGCCATGTCAGACA	0.512000														149			12		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170345807	170345807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:170345807G>A	uc003isd.2	-	30	3697	c.3119C>T	c.(3118-3120)tCc>tTc	p.S1040F	NEK1_uc003ise.2_Missense_Mutation_p.S996F|NEK1_uc003isb.2_Missense_Mutation_p.S1012F|NEK1_uc003isc.2_Missense_Mutation_p.S968F|NEK1_uc003isf.2_Missense_Mutation_p.S943F	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1012					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATGCAAAGGATTCTTCTGG	0.398000														12			4		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242222	5242222	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:5242222G>A	uc003jdl.3	+	16	2718	c.2580G>A	c.(2578-2580)ttG>ttA	p.L860L	ADAMTS16_uc003jdk.1_Silent_p.L860L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	860	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R859C(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCCTCGCTTGGGGACCGAGA	0.552000														63			5		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065776	32065776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32065776C>T	uc003nzl.2	-	1	402	c.200G>A	c.(199-201)gGg>gAg	p.G67E	TNXB_uc010jts.1_Missense_Mutation_p.G66E|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	67					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCTTCTCCCCTCCTTCCAC	0.657000														281			27		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196746715	196746715	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:196746715C>T	uc002utj.4	-	36	5865	c.5764_splice	c.e36-1	p.G1922_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1922					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						TTTTCCTATTCCCTGTTTATA	0.338000														24			5		0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88240513	88240513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:88240513G>A	uc003pme.3	-	8	820	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	RARS2_uc003pmc.3_Missense_Mutation_p.R79W|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	254					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTGTAAACCCGAATGTACTCT	0.473000														35			5		0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149399195	149399195	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149399195G>A	uc010pbi.1	-	0		c.35C>T						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CGCGAAAAAAGAGAACAGAGA	0.488000														29			4		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51738506	51738506	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51738506C>T	uc002pwa.2	+	4	880	c.840C>T	c.(838-840)ttC>ttT	p.F280F	CD33_uc010eos.1_Silent_p.F280F|CD33_uc010eot.1_Silent_p.F153F|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	280					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCATCTTCTTCATGTGAGCAT	0.567000														38			12		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756757	71756757	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71756757G>A	uc003kce.1	-	1	753	c.567C>T	c.(565-567)ttC>ttT	p.F189F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACGAGGGCACGAAGAAGGGGA	0.687000														97			10		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5541075	5541075	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:5541075C>T	uc003soo.2	-	2	919	c.825G>A	c.(823-825)gaG>gaA	p.E275E	FBXL18_uc003son.4_Silent_p.E275E	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	275									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGGCGCCGCTCTCCGCGAAGC	0.642000														36			5		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116635	28116635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:28116635C>T	uc001rik.3	-	2	473	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	PTHLH_uc001ril.3_Missense_Mutation_p.R57Q|PTHLH_uc001rim.3_Missense_Mutation_p.R57Q|PTHLH_uc001rin.3_Missense_Mutation_p.R57Q	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	57	Important for receptor binding.				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	p.R57Q(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AAGGAAGAATCGTCGCCGTAA	0.473000														103			19		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267526	71267526	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:71267526T>C	uc001xmm.3	-	1	678	c.678A>G	c.(676-678)ggA>ggG	p.G226G	MAP3K9_uc001xml.3_Silent_p.G226G	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	226	Protein kinase.				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)		TATTCAAAGGTCCTCCACGAG	0.507000														59			5		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124598641	124598641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124598641G>A	uc001lgs.3	-	4	1291	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CUZD1_uc001lgp.3_5'Flank|CUZD1_uc009yad.3_5'Flank|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Missense_Mutation_p.P114S	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	114	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAATACAGGAACATAGTCG	0.408000														90			8		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889921	89889921	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89889921G>A	uc009wcy.1	+	4		c.662G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		GAGTTATCAGGAACACTTGAA	0.463000														333			37		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98495396	98495396	+	Silent	SNP	C	A	A	rs150341749		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98495396C>A	uc003upp.3	+	7	749	c.540C>A	c.(538-540)ccC>ccA	p.P180P	TRRAP_uc011kis.2_Silent_p.P180P|TRRAP_uc003upr.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	180					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)			AAGTGATCCCCGAGAACACAG	0.408000														65			4		1	1	1	1	0
IDO2	169355	broad.mit.edu	37	8	39821178	39821178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39821178C>T	uc010lwy.1	+	2	432	c.190C>T	c.(190-192)Cct>Tct	p.P64S	IDO2_uc003xno.1_Non-coding_Transcript	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	51					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAACAAACTTCCTCAATTGAT	0.383000														13			3		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988265	134988265	+	Silent	SNP	C	T	T	rs151240146		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:134988265C>T	uc004ezh.3	+	5	704	c.537C>T	c.(535-537)ccC>ccT	p.P179P	SAGE1_uc010nry.1_Silent_p.P148P|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	179										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAACTGGTCCCACAGGGCTTA	0.433000														29			8		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130288974	130288974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:130288974C>T	uc001qgg.4	-	1	1292	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	312	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		ATGGCCGTGTCGTAGTGCTCT	0.642000														148			8		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981439	63981439	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:63981439C>T	uc003dlv.3	+	11	2494	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	ATXN7_uc003dlw.4_Silent_p.S647S|ATXN7_uc021wzy.1_Silent_p.S647S|ATXN7_uc011bfn.2_Silent_p.S502S	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	647	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GACAAGTGTCCTCTTCATCCT	0.512000														112			7		0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805379	68805379	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:68805379G>A	uc003jwu.3	+	2	898	c.462G>A	c.(460-462)gtG>gtA	p.V154V	OCLN_uc003jwv.4_Silent_p.V154V|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	154	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCGCGTTGGTGATCTTTGTTA	0.443000														64			7		0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27064861	27064861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27064861C>T	uc002hcp.3	+	6	914	c.914C>T	c.(913-915)cCa>cTa	p.P305L		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	305						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCTGTGAGGCCAGCCATCCCA	0.627000														139			11		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286868	55286868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55286868G>A	uc010erz.1	+	3	660	c.622G>A	c.(622-624)Gag>Aag	p.E208K	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.E208K	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	208					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCTCCATACGAGTGGTCAAA	0.552000														152			24		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428293	64428293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64428293C>T	uc021qkw.1	-	9	2579	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	NRXN2_uc021qkx.1_Missense_Mutation_p.R675Q|NRXN2_uc001oas.3_Missense_Mutation_p.R675Q|NRXN2_uc001oaq.3_Missense_Mutation_p.R373Q	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	706	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGCCTTCTCGACAGACGCC	0.632000														52			6		0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39409116	39409116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39409116G>A	uc010xup.1	-	9	1028	c.868C>T	c.(868-870)Cct>Tct	p.P290S	SARS2_uc002ojz.2_Missense_Mutation_p.P98S|SARS2_uc002oka.2_Missense_Mutation_p.P288S|SARS2_uc010xuq.1_Missense_Mutation_p.P288S|SARS2_uc010xur.1_Non-coding_Transcript	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	288					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	p.R290H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AAGCGGGCAGGGTCGATGTTG	0.592000														70			5		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50685828	50685828	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50685828G>A	uc003tpi.2	-	6	832	c.786C>T	c.(784-786)ttC>ttT	p.F262F	GRB10_uc003tph.3_Silent_p.F204F|GRB10_uc003tpj.2_Silent_p.F262F|GRB10_uc003tpk.2_Silent_p.F262F|GRB10_uc010kzb.2_Silent_p.F204F|GRB10_uc003tpl.2_Silent_p.F256F|GRB10_uc003tpm.2_Silent_p.F204F	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	262					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCTGTTCTGGGAAGAAATTCT	0.383000									Russell-Silver syndrome					29			8		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558863	129558863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:129558863C>T	uc009zyl.1	-	8	3185	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	TMEM132D_uc001uia.2_Missense_Mutation_p.E491K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	953						integral to membrane		p.E953*(2)|p.F952L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458000														100			6		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985577	108985577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:108985577C>T	uc001tng.3	-	1	746	c.583G>A	c.(583-585)Gac>Aac	p.D195N	TMEM119_uc021rdl.1_Missense_Mutation_p.D195N	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	195						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CTGGCTCCGTCCCCACCGCCC	0.687000														43			7		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510346	56510346	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56510346C>T	uc010rjo.2	-	0	942	c.942G>A	c.(940-942)gaG>gaA	p.E314E		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTGAAGGCCTCTTTGATAT	0.408000														51			5		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2403135	2403135	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2403135G>A	uc010xgx.2	+	4	510	c.510G>A	c.(508-510)gtG>gtA	p.V170V	TMPRSS9_uc002lvv.1_Silent_p.V204V	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	170	LDL-receptor class A.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGACCAAGGTGAACCCGGAGT	0.602000														31			10		0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147374	65147374	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65147374G>A	uc001odr.1	-	3	321	c.117C>T	c.(115-117)atC>atT	p.I39I	SLC25A45_uc009yqi.1_Silent_p.I39I|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_5'UTR|SLC25A45_uc001odt.1_5'UTR	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	39					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGCAATCAACGATGCCCCGGT	0.622000														59			4		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50294062	50294062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50294062G>A	uc001jhf.2	-	2	493	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	155	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTTTGAGGGAAATGACTGA	0.328000														31			4		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79207685	79207685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79207685C>T	uc003hlb.2	+	13	1966	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	FRAS1_uc003hkw.3_Missense_Mutation_p.S509F|FRAS1_uc003hky.1_Missense_Mutation_p.S213F|FRAS1_uc003hkz.3_Missense_Mutation_p.S213F|FRAS1_uc003hla.1_Missense_Mutation_p.S20F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	509					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCGCCATTCCTGTGCAGGT	0.622000														47			4		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220353934	220353935	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220353934_220353935GG>AA	uc010fwg.3	+	34	8308_8309	c.8308_8309GG>AA	c.(8308-8310)ggt>AAt	p.G2770N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2770					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTTTGTCAGGGGTACTCAAGGT	0.609000														118			11		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154478223	154478223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:154478223C>T	uc010ipp.3	+	5	590	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	KIAA0922_uc003inm.4_Missense_Mutation_p.L180F|KIAA0922_uc010ipq.3_Missense_Mutation_p.L32F	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	180						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTATGGAGTCCTTTCCTATCA	0.348000														26			7		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994567	140994567	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140994567C>T	uc004fbt.3	+	3	1701	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.F118F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	459							protein binding	p.L458V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.488000										HNSCC(15;0.026)				48			15		0	0	1	0	0
TMIE	259236	broad.mit.edu	37	3	46747307	46747307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46747307C>T	uc010hjk.1	+	1	276	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	TMIE_uc010hjj.1_Missense_Mutation_p.A80V	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	Homo sapiens transmembrane inner ear (TMIE), mRNA.	41						integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CAAGCCCAAGCCGCCTCCGCT	0.622000											OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			9		0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900772	28900772	+	RNA	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:28900772A>C	uc010uan.1	+	2		c.703A>C			HERC2P9_uc010azc.3_Intron|HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		TGGGCTCATCAACAAGTACAT	0.567000														66			5		0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130424436	130424436	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:130424436A>C	uc003enj.3	-	11	3482	c.2901T>G	c.(2899-2901)aaT>aaG	p.N967K		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	967					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCATTCAGCATTTTCCATCA	0.413000														32			5		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384925	133384925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:133384925G>A	uc001ukz.1	-	4	1289	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.R244W|GOLGA3_uc001ulb.3_Missense_Mutation_p.R244W	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	244	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R244R(4)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCAGAGACCGGATTTTGCTT	0.547000														139			13		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219604796	219604796	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219604796C>T	uc002viy.3	+	3	1873	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	TTLL4_uc010zkl.1_Silent_p.L336L|TTLL4_uc010fvx.3_Silent_p.L501L	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	501					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)		CTACTGACCTCCAGCCAGATC	0.458000														41			6		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380811	108380811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:108380811C>T	uc001pkk.3	-	5	5534	c.5423G>A	c.(5422-5424)cGa>cAa	p.R1808Q	EXPH5_uc010rvz.2_Missense_Mutation_p.R1652Q|EXPH5_uc010rvy.2_Missense_Mutation_p.R1620Q	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1808					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATGGCTTTTTCGTAGTAGATC	0.453000														71			7		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27435652	27435652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27435652G>A	uc003njj.3	-	1	866	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	ZNF184_uc010jqv.3_Missense_Mutation_p.L19F|ZNF184_uc003nji.3_Missense_Mutation_p.L19F	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTGATGAGAGTAGATTATGT	0.413000														32			12		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58124079	58124079	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58124079G>A	uc003djj.2	+	28	5097	c.4932G>A	c.(4930-4932)ggG>ggA	p.G1644G	FLNB_uc010hne.2_Silent_p.G1675G|FLNB_uc003djk.2_Silent_p.G1644G|FLNB_uc010hnf.2_Silent_p.G1644G|FLNB_uc003djl.2_Silent_p.G1475G|FLNB_uc003djm.2_Silent_p.G1475G	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1644					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G1644G(2)|p.G1675G(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACTGCCGGGAAGGGTAAAG	0.522000														64			6		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16242646	16242646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16242646C>T	uc001axk.1	+	5	1471	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	SPEN_uc010obp.1_Missense_Mutation_p.R382C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	423					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAATGAATTTCGCCCCTTGGA	0.368000														35			14		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89846009	89846009	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89846009A>G	uc001dnf.2	+	5	964	c.690A>G	c.(688-690)aaA>aaG	p.K230K	GBP6_uc010ost.1_Silent_p.K100K	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	230							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCTTTCCAAAACGGAAGTGTT	0.413000														31			10		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798490	39798490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39798490G>A	uc002okw.2	-	1	2099	c.2099C>T	c.(2098-2100)cCg>cTg	p.P700L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	700						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCGCTGCTGCGGCCTCGGCCG	0.716000														11			3		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84234385	84234386	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:84234385_84234386GA>AT	uc003hoj.4	-	3	653_654	c.554_555TC>AT	c.(553-555)atc>aAT	p.I185N	HPSE_uc003hoi.3_Intron|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Intron|HPSE_uc003hok.4_Missense_Mutation_p.I185N|HPSE_uc011cct.2_Missense_Mutation_p.I185N	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	185					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTAGGCCAAAGATCAAGTCCAG	0.406000														50			4		0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006308	24006308	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:24006308G>A	uc004dba.4	-	3	1801	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	515										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TCTCTGGGTTGTATACTTCTG	0.468000														59			16		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161118948	161118948	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:161118948G>A	uc003lyu.2	+	8	1165	c.827_splice	c.e8-1	p.G276_splice	GABRA6_uc003lyv.2_Splice_Site_p.G47_splice	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATTTTAGGGATCACCACTG	0.388000										TCGA Ovarian(5;0.080)				52			4		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45795121	45795121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45795121C>T	uc003bgc.3	-	5	1019	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SMC1B_uc003bgd.3_Missense_Mutation_p.E323K|SMC1B_uc003bge.1_Missense_Mutation_p.E106K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	323					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.E323K(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATTGTTTTTCGCTGTCCTTT	0.383000														80			11		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11102955	11102955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11102955C>T	uc001aru.3	-	5	898	c.866G>A	c.(865-867)tGg>tAg	p.W289*		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	289	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTGGATCTTCCAGCCTGTGTG	0.532000														107			9		0	0	1	0	0
C3orf45	132228	broad.mit.edu	37	3	50316590	50316590	+	Missense_Mutation	SNP	G	A	A	rs145420790		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50316590G>A	uc003cyz.3	+	0	73	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_153215	NP_694947	Q8N112	CC045_HUMAN	Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA.	16						integral to membrane				endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATGCCTGAGGAGACCCAAGA	0.602000														39			4		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31873905	31873905	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31873905T>C	uc002wyw.1	+	1	187	c.26T>C	c.(25-27)cTt>cCt	p.L9P	BPIFB1_uc010gej.1_Missense_Mutation_p.L9P	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	9						extracellular space	lipid binding										ACCTTCACCCTTCTCTGTGGT	0.577000														81			8		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33076601	33076601	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:33076601C>A	uc003zsf.1	-	0	114	c.6G>T	c.(4-6)tcG>tcT	p.S2S	SMU1_uc011lnu.1_5'UTR	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	2						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CGATTTCGATCGACATAGCCG	0.627000														83			4		0.150653	0.151351	1	1	0
DENND1C	79958	broad.mit.edu	37	19	6479879	6479879	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6479879G>A	uc002mfe.3	-	2	209	c.117C>T	c.(115-117)ttC>ttT	p.F39F	DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Intron	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	39	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCTGGTCCCTGAAGTCTGGAG	0.642000														14			4		0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111991770	111991770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111991770G>A	uc001ebb.3	-	0	61	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	WDR77_uc010owe.2_Missense_Mutation_p.P8S|WDR77_uc021orq.1_Missense_Mutation_p.P8S|ATP5F1_uc009wgf.1_Intron|ATP5F1_uc001ebc.3_5'UTR	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	Homo sapiens WD repeat domain 77 (WDR77), mRNA.	8					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCACTAGGGGGGGTGGGGTT	0.672000														13			6		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45208885	45208885	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45208885C>T	uc010xxd.2	+	4	893	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	229										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGGCCATCCTCCAGGATTCCA	0.602000														179			30		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31795975	31795975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:31795975G>A	uc001zfq.3	-	6	1012	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	OTUD7A_uc001zfr.3_Missense_Mutation_p.H314Y	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	307	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACAAAAACGTGGAACTCTTCC	0.478000														79			30		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21827146	21827146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21827146C>T	uc003svc.3	+	60	9921	c.9890C>T	c.(9889-9891)tCt>tTt	p.S3297F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3297	Stalk (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						CGAACCAAATCTTTTGCAGCA	0.393000									Kartagener syndrome					11			5		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151829	158151829	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158151829G>A	uc001frr.3	+	3	835	c.336G>A	c.(334-336)ttG>ttA	p.L112L	CD1D_uc009wsr.1_Silent_p.L112L|CD1D_uc009wss.3_Silent_p.L112L|CD1D_uc009wst.1_Silent_p.L8L	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	112					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGATCCCTTGGAGCTCCAGG	0.463000														122			27		0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156752695	156752695	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:156752695T>C	uc003wmy.3	+	3	1474	c.1459T>C	c.(1459-1461)Ttg>Ctg	p.L487L	NOM1_uc010lqp.1_5'Flank	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	487	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCGACATTTTGAAAAAACT	0.388000														43			7		0	0	1	0	0
CCDC3	83643	broad.mit.edu	37	10	13040470	13040470	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:13040470G>A	uc001ilq.1	-	1	551	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	139						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGGCATCTTGGAAATTGACTC	0.458000														46			6		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8669951	8669951	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8669951G>A	uc002mkj.1	-	3	655	c.381C>T	c.(379-381)caC>caT	p.H127H	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	127					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						GGCCCTGCAGGTGACCAGCGT	0.662000														21			5		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109808508	109808508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109808508C>T	uc001dxa.4	+	13	5940	c.5879C>T	c.(5878-5880)cCt>cTt	p.P1960L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1960	Laminin EGF-like.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTGACAACCCTTTTGCTGAG	0.607000														343			84		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183664516	183664516	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183664516C>T	uc003ivd.1	+	17	3648	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	ODZ3_uc003ive.1_Silent_p.F597F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1191					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)		TAGGCGATTTCAACTATGTGC	0.468000														24			7		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709263	176709263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176709263C>T	uc001gkz.3	+	13	5246	c.4082C>T	c.(4081-4083)tCc>tTc	p.S1361F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1361					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGGACATCCTCCCGCATTGGT	0.517000														3			5		0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75187483	75187483	+	Nonsense_Mutation	SNP	G	A	A	rs138597910	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75187483G>A	uc009xrh.3	-	3	407	c.334C>T	c.(334-336)Cga>Tga	p.R112*	MSS51_uc001juc.3_Nonsense_Mutation_p.R89*|MSS51_uc001jud.3_Nonsense_Mutation_p.R89*|MSS51_uc009xrg.3_Silent_p.F11F	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	89							zinc ion binding										TGAGGACATCGAAATCCAAAG	0.488000														45			4		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40835847	40835847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40835847G>A	uc002iay.3	+	1	292	c.76G>A	c.(76-78)Gac>Aac	p.D26N	CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	26	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACGGCTGCGACGAGGAGCT	0.642000														35			5		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940456	144940456	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144940456G>A	uc003zaa.1	-	0	6979	c.6966C>T	c.(6964-6966)ttC>ttT	p.F2322F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2322						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)			GCATGGCCTGGAAGAGGGAGA	0.701000														267			8		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73927255	73927255	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73927255C>T	uc003uaq.3	+	2	612	c.219C>T	c.(217-219)ttC>ttT	p.F73F	GTF2IRD1_uc010lbq.3_Silent_p.F73F|GTF2IRD1_uc003uap.3_Silent_p.F73F|GTF2IRD1_uc003uar.1_Silent_p.F73F	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	73						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGAATGTTCCTGAATGCCC	0.637000														67			4		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53224066	53224066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53224066C>T	uc001sbb.3	-	2	742	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	KRT79_uc001sba.3_Missense_Mutation_p.E8K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	237	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGTTGATTTCATCCTCGTAC	0.572000														63			5		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236644	33236645	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33236644_33236645CC>TT	uc001bvu.1	+	5	1908_1909	c.1864_1865CC>TT	c.(1864-1866)cct>TTt	p.P622F	KIAA1522_uc010ohm.1_Missense_Mutation_p.P574F|KIAA1522_uc001bvv.2_Missense_Mutation_p.P563F|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	563	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCTTCGCTCCCCTGGGGCCTCC	0.649000														103			7		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060743	111060743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111060743C>T	uc001dzt.1	-	0	1055	c.667G>A	c.(667-669)Gtg>Atg	p.V223M		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	223						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.S222S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACAACCAACACCGAGACCACG	0.552000														41			9		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977127	107977127	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107977127C>T	uc004eoc.2	-	0	2481	c.2448G>A	c.(2446-2448)cgG>cgA	p.R816R		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	816						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity	p.R816L(1)		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						AAGGTGAGCTCCGAAAAGGGT	0.502000														126			10		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90497824	90497824	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90497824C>T	uc004app.4	+	0	53	c.18C>T	c.(16-18)atC>atT	p.I6I	FAM75E1_uc004apo.1_Silent_p.I6I	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	6						integral to membrane											ATCTCGTCATCCCTCTAGGGA	0.607000														43			5		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089819	10089819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10089819C>T	uc002mmq.1	-	38	2949	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	955	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			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)			TTGGCCCCCTCTCTGCCTTCC	0.587000														38			5		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100451836	100451836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100451836C>T	uc003uwp.3	+	1	159	c.17C>T	c.(16-18)tCa>tTa	p.S6L	SLC12A9_uc003uwo.1_Missense_Mutation_p.S6L|SLC12A9_uc003uwq.3_Missense_Mutation_p.S6L|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	6						integral to membrane|plasma membrane	cation:chloride symporter activity	p.S6S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCGAGAGCTCACCTCTGCTG	0.632000														57			6		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740809	19740809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19740809G>A	uc002nnd.3	-	20	2993	c.2876C>T	c.(2875-2877)cCg>cTg	p.P959L	LPAR2_uc002nnb.4_5'Flank|LPAR2_uc002nna.4_5'Flank|LPAR2_uc002nnc.4_5'Flank|GMIP_uc010xrb.2_Missense_Mutation_p.P933L|GMIP_uc010xrc.2_Missense_Mutation_p.P930L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	959					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding	p.P959P(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGGACGTCCGGGCAGCAGGT	0.597000														16			4		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882138	42882138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42882138C>T	uc002ihj.3	-	1	1559	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	GJC1_uc002ihk.3_Missense_Mutation_p.D350N|GJC1_uc002ihl.3_Missense_Mutation_p.D350N|GJC1_uc021tyf.1_Missense_Mutation_p.D350N	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	350					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACTGCCAGATCCAAGCGTTCC	0.577000														96			4		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847020	95847020	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:95847020C>T	uc002suf.3	+	4	909	c.447C>T	c.(445-447)tcC>tcT	p.S149S	ZNF2_uc002sug.3_Silent_p.S107S|ZNF2_uc010yue.2_Silent_p.S111S|ZNF2_uc010fhs.3_Silent_p.S69S	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GTAAGAAATCCCTCTCCCGGG	0.522000														69			11		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27730116	27730116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27730116C>T	uc002rky.3	+	12	1147	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	GCKR_uc010ezd.3_Missense_Mutation_p.R359C|GCKR_uc010ylu.2_Missense_Mutation_p.R171C	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	361	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.R361H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCGAGATGTCCGTGGCTTTCT	0.498000														256			100		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746604	94746604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:94746604G>A	uc022aye.1	-	0	2035	c.2035C>T	c.(2035-2037)Cca>Tca	p.P679S	RBM12B_uc003yfz.3_Missense_Mutation_p.P679S	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	679							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCCTCTGGGGGCCGTCTC	0.627000														106			5		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603235	37603235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:37603235C>T	uc002yvg.3	+	13	2232	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	DOPEY2_uc011aeb.2_Missense_Mutation_p.S718L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	718					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCATCGTCTTCGCCCAGCAGC	0.552000														31			6		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285804	223285804	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223285804G>A	uc021pjl.1	-	0	570	c.570C>T	c.(568-570)ctC>ctT	p.L190L	TLR5_uc001hnv.2_Silent_p.L190L|TLR5_uc001hnw.2_Silent_p.L190L	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	190					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GTAGGGGCTCGAGCTCATGTT	0.423000														37			4		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72234468	72234468	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72234468G>A	uc002llq.3	+	6	767	c.556_splice	c.e6-1	p.D186_splice	CNDP1_uc002lls.3_5'UTR	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	186					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTTACTTAGGATCTTCCTGT	0.433000														30			6		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250155	35250155	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35250155G>A	uc010edn.1	-	3	1939	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	ZNF599_uc010edm.2_Silent_p.T480T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGCAGGTTGGGTAAAAGCCT	0.408000														28			6		0	0	1	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47969866	47969866	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:47969866G>A	uc011mlv.2	+	3	142	c.70_splice	c.e3-1	p.A24_splice	LOC100509575_uc022bvt.1_Splice_Site	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	24					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										TTTTTTCCTAGGCCTTCGATG	0.443000														26			5		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388965	20388965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20388965C>T	uc010tkw.2	+	0	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAACCTTTCCTTTGTTGAC	0.433000														49			4		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062959	76062959	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76062959C>T	uc003ufd.4	+	3	718	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ZP3_uc003ufc.4_Silent_p.F185F|ZP3_uc003ufe.3_Silent_p.F144F	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	236	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TCGTGGACTTCCATGGGTGAG	0.552000														74			5		0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127693503	127693503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:127693503G>A	uc009yan.3	+	7	772	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	FANK1_uc001ljh.4_Missense_Mutation_p.R197Q|FANK1_uc001lji.3_Missense_Mutation_p.R191Q	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	197						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAATATCTCCGAAGACATGGC	0.512000														112			12		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807625	20807625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:20807625G>A	uc002npb.1	-	3	1208	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ZNF626_uc002npc.1_Missense_Mutation_p.S277F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAGGGTAGAGGAGTACTTAAA	0.393000														39			7		0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120914643	120914643	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:120914643G>A	uc001leb.3	-	10	708	c.663C>T	c.(661-663)tcC>tcT	p.S221S	SFXN4_uc001ldy.3_Silent_p.S105S|SFXN4_uc001lea.3_Non-coding_Transcript	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	Homo sapiens sideroflexin 4 (SFXN4), mRNA.	221					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCCCCTTAATGGATTCAAGAC	0.473000														68			10		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299894	103299894	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103299894C>T	uc002tca.3	+	3	1321	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	393						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						ACTGGGCCTTCGTCTGCTTCA	0.507000														21			16		0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160393950	160393950	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160393950C>T	uc001fwb.2	+	7	1481	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	VANGL2_uc001fwc.2_Silent_p.I394I	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	394					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAAGCCATCTTTGCATCCA	0.592000														51			6		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61250266	61250266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61250266C>T	uc001nru.2	+	3	499	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	PPP1R32_uc009ynq.2_Missense_Mutation_p.P123S	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	123																	CAGTGCGGGTCCCCCCACCAA	0.682000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			6		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32050069	32050069	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32050069G>A	uc003nzl.2	-	8	3682	c.3480C>T	c.(3478-3480)ccC>ccT	p.P1160P		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1247	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCCCAGGTGGGGTGGAGTCC	0.562000														325			33		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199170	24199170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24199170G>A	uc003xdy.3	+	15	1813	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G264E	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	577	Cys-rich.				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)		CCCTGGAAAGGACGGATAGTG	0.428000														50			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229818	21229818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21229818G>A	uc002red.3	-	25	10050	c.9922C>T	c.(9922-9924)Cat>Tat	p.H3308Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3308					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTAGGGACATGAAGGACTGGC	0.428000														233			13		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071500	2071500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2071500G>A	uc003wpx.4	+	29	3778	c.3640G>A	c.(3640-3642)Gaa>Aaa	p.E1214K	MYOM2_uc011kwi.2_Missense_Mutation_p.E639K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1214					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCCATCCTTGAAATAGCTGG	0.403000														48			4		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484171	26484171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26484171C>T	uc003xfb.2	+	4	948	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	DPYSL2_uc003xfa.3_Missense_Mutation_p.R278C|DPYSL2_uc011lag.2_Missense_Mutation_p.R173C|DPYSL2_uc011lah.2_Missense_Mutation_p.R137C	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	173					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TTTCAAAGATCGCTTCCAGCT	0.453000														75			12		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569340	73569340	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73569340C>T	uc002joh.3	+	19	2860	c.2706C>T	c.(2704-2706)gtC>gtT	p.V902V	LLGL2_uc002joi.3_Silent_p.V902V|LLGL2_uc010dgg.2_Silent_p.V902V|LLGL2_uc002joj.3_Silent_p.V891V|LLGL2_uc010wsd.2_Silent_p.V529V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	902					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCCTGCGTCTTCACCAAAT	0.677000														87			29		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590625	102590625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:102590625C>T	uc022bky.1	+	3	1102	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	NR4A3_uc004bae.3_Missense_Mutation_p.H101Y|NR4A3_uc004baf.1_Missense_Mutation_p.H101Y	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	101					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)				tcaccaccaccaccaccacca	0.612000			T	EWSR1	extraskeletal myxoid chondrosarcoma									17			10		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234861	103234861	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:103234861C>T	uc022ajr.1	-	25	3778	c.3618G>A	c.(3616-3618)ggG>ggA	p.G1206G	RELN_uc022ajq.1_Silent_p.G1206G|RELN_uc010liz.3_Silent_p.G1206G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1206					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATAGTCCTCCCCTGAGAACA	0.483000														43			6		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957251	57957251	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57957251C>T	uc001sor.1	+	1	367	c.159C>T	c.(157-159)ttC>ttT	p.F53F	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	53	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCGTGTATTCCCCCCAAACA	0.418000														36			7		0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43591732	43591732	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43591732G>A	uc003ovs.3	-	7	1211	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	GTPBP2_uc010jyv.3_Silent_p.L304L	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	392							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGGCGGCAGAATATTCAGA	0.512000														104			7		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429567	29429567	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29429567C>T	uc003nmi.3	+	2	464	c.21C>T	c.(19-21)ccC>ccT	p.P7P	OR2H1_uc003nmj.1_Silent_p.P7P|OR2H1_uc010jri.2_Intron|OR2H1_uc021ytr.1_Silent_p.P7P	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						AAAGCTCCCCCATGGGCTTCC	0.522000														79			7		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15430618	15430618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15430618C>T	uc001avm.4	+	12	2262	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	KAZN_uc001avs.4_Missense_Mutation_p.P108S	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	661	SAM 3.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCTGGGCATCCCCAGTGGGAA	0.632000														18			7		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144923	139144923	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139144923G>A	uc003yuy.3	-	19	4305	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I	FAM135B_uc003yux.3_Silent_p.I1279I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1378								p.L1377L(1)		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)			CGGCTCGGCCGATCAGGGTGT	0.537000										HNSCC(54;0.14)				160			10		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126226858	126226858	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126226858G>A	uc010hsi.2	-	4	546	c.492C>T	c.(490-492)ctC>ctT	p.L164L	UROC1_uc003eiz.2_Silent_p.L164L	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	164					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGCTGGGAAAGAGGCCAAGTG	0.597000														72			5		0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	857646	857646	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:857646G>A	uc010uut.2	+	2	643	c.643_splice	c.e2+1	p.D215_splice		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	Homo sapiens proline rich 25 (PRR25), mRNA.	215										large_intestine(1)|lung(1)|skin(1)	3						CCCTCTTACAGGTGGGGAAAC	0.706000														23			3		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872835	136872835	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136872835A>T	uc002tuz.3	-	1	758	c.663T>A	c.(661-663)atT>atA	p.I221I	CXCR4_uc002tuy.3_Silent_p.I225I|CXCR4_uc010fnk.3_Silent_p.I206I	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	221					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGGAGATGATAATGCAATAGC	0.522000														74			5		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698647	169698647	+	Missense_Mutation	SNP	C	T	T	rs5364	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169698647C>T	uc001ggm.4	-	5	1040	c.883G>A	c.(883-885)Gag>Aag	p.E295K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	295	Sushi 2.		E -> K (in dbSNP:rs5364).		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)					GTTGGCTTCTCGTTGTCCCAA	0.458000														25			8		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009498	201009499	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201009498_201009499GG>AA	uc001gvv.3	-	42	5457_5458	c.5230_5231CC>TT	c.(5230-5232)ccc>TTc	p.P1744F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1744					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)	CTCCACCCTGGGGCACTGTTCC	0.550000														33			4		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926164	1926164	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1926164C>T	uc002qxe.3	-	9	2204	c.1377G>A	c.(1375-1377)agG>agA	p.R459R	MYT1L_uc002qxd.3_Silent_p.R459R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	459					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCATATTGTCCCTCCTCCCAG	0.522000														114			8		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505656	155505656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:155505656G>A	uc003iod.1	-	5	2279	c.2221C>T	c.(2221-2223)Cac>Tac	p.H741Y		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	741	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCCGGAAGTGATATTCTGCA	0.522000														19			5		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32163542	32163542	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32163542G>A	uc001btk.1	-	5	987	c.622C>T	c.(622-624)Cta>Tta	p.L208L	COL16A1_uc001btj.1_Silent_p.L37L|COL16A1_uc001btl.4_Silent_p.L208L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	208	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAAGCCTAGAAATACATGG	0.627000														76			6		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148747	125148747	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125148747C>T	uc004bmg.1	+	8	1167	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PTGS1_uc011lys.1_Silent_p.I319I|PTGS1_uc010mwb.1_Silent_p.I235I|PTGS1_uc004bmf.1_Silent_p.I344I|PTGS1_uc004bmh.1_Silent_p.I235I|PTGS1_uc011lyt.1_Silent_p.I235I	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	344					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	AGATTGTCATCGAGGAGTACG	0.532000														93			6		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127239557	127239557	+	Missense_Mutation	SNP	G	A	A	rs141748303	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:127239557G>A	uc003vmd.2	+	4	1462	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	FSCN3_uc011koh.1_Missense_Mutation_p.D281N|FSCN3_uc010llc.2_Missense_Mutation_p.D415N	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	415						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGATCAGCCCGACCGCATTCA	0.547000														115			11		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406955	38406955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38406955G>A	uc003jlc.2	+	7	1200	c.854G>A	c.(853-855)gGa>gAa	p.G285E	EGFLAM_uc003jlb.2_Missense_Mutation_p.G285E|EGFLAM_uc003jle.2_Missense_Mutation_p.G51E|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	285						cell junction|proteinaceous extracellular matrix|synapse		p.G285E(2)		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)					GCTACCAAAGGAGGGAATAAG	0.428000														22			3		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76783474	76783474	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:76783474A>T	uc001sye.1	-	11	1783	c.1303T>A	c.(1303-1305)Ttc>Atc	p.F435I	OSBPL8_uc001syf.1_Missense_Mutation_p.F393I|OSBPL8_uc001syg.1_Missense_Mutation_p.F393I|OSBPL8_uc001syh.1_Missense_Mutation_p.F410I	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	435					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTATCCAGGAAAGAACGGGGT	0.358000														60			6		0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26818096	26818096	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26818096G>A	uc002rhm.3	-	3	305	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	92	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCTCGCTGAACACAGATG	0.557000														51			5		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763707	102763707	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102763707C>T	uc001ksj.3	+	2	1022	c.852C>T	c.(850-852)tcC>tcT	p.S284S	LZTS2_uc010qpw.2_Silent_p.S284S|LZTS2_uc001ksk.3_Silent_p.S284S|LZTS2_uc001ksl.3_Silent_p.S284S|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	284	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center		p.S284S(2)|p.S147S(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCACAGGCTCCCTAGGGGGCC	0.711000														78			5		0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238544	71238544	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71238544C>T	uc001oqq.1	+	0	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	66	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G66G(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652000														180			11		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475106	50475106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50475106G>A	uc010ybk.1	+	2	137	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						CCTAGTCCTGGAAAACCTGAG	0.642000														18			4		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103437	52103437	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:52103437G>A	uc001jje.3	-	6	1392	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Silent_p.F146F|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Silent_p.F146F|SGMS1_uc021pqo.1_Silent_p.F146F|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	152					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTGAGAACGAAACAGGAAA	0.502000														38			6		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2573039	2573039	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2573039C>T	uc002wgf.1	+	7	933	c.918C>T	c.(916-918)gtC>gtT	p.V306V	TMC2_uc002wgg.1_Silent_p.V290V|TMC2_uc010zpw.1_Silent_p.V138V|TMC2_uc010zpx.1_Silent_p.V137V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	306						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTTTCTGTCCTTTGGGATT	0.418000														52			7		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:47730390C>T	uc002eev.4	+	28	3046	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	PHKB_uc002eeu.4_Silent_p.I991I|PHKB_uc002eew.4_Silent_p.I239I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	998					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423000														17			3		0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195975103	195975103	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195975103G>A	uc003fwg.3	-	4	482	c.309C>T	c.(307-309)ttC>ttT	p.F103F	PCYT1A_uc003fwh.3_Silent_p.F103F	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	103	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	ACGTATTAGGGAAAAGGTTCT	0.443000														122			12		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40933060	40933060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40933060C>T	uc002ibj.3	+	0	412	c.344C>T	c.(343-345)cCt>cTt	p.P115L	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	115					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGGGAGCCCCTGTGAAGGCT	0.716000														19			7		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919811	4919811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:4919811G>A	uc001qng.3	+	0	1470	c.604G>A	c.(604-606)Gat>Aat	p.D202N	KCNA6_uc021qtr.1_Missense_Mutation_p.D202N	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	202						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GTTCCGTGTAGATGGTCGAGG	0.547000										HNSCC(72;0.22)				39			6		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292964	219292964	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219292964G>A	uc002vib.3	+	4	493	c.471G>A	c.(469-471)tgG>tgA	p.W157*	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Nonsense_Mutation_p.W157*|VIL1_uc002vic.1_Nonsense_Mutation_p.W157*	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	157	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGTCCTGGAAGAGTTTCA	0.562000														90			8		0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931652	45931652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45931652G>A	uc003tnp.3	+	2	934	c.641G>A	c.(640-642)aGc>aAc	p.S214N		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	214	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TTTTATCACAGCAGACAGGTA	0.483000														33			6		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787712	151787712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151787712G>A	uc001ezh.3	-	4	596	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RORC_uc001ezg.3_Missense_Mutation_p.S142L|RORC_uc010pdo.2_Missense_Mutation_p.S217L|RORC_uc010pdp.2_Missense_Mutation_p.S163L	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	163	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGTCAGGCGAGGAGCCCAG	0.637000														45			4		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841579	100841579	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100841579C>T	uc003uyc.3	-	4	728	c.561G>A	c.(559-561)gtG>gtA	p.V187V	MOGAT3_uc010lhr.3_Silent_p.V187V	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	187					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCATGATGACCACGGCCTGCC	0.652000														38			6		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	337960	337960	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrGL000192.1:337960G>A	uc010yij.1	-	2		c.307C>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)				CTTTGATTCGGAGGGGCAGAC	0.428000														26			6		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450371	50450371	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50450371G>A	uc003tow.4	+	4	710	c.555G>A	c.(553-555)agG>agA	p.R185R	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.R98R|IKZF1_uc022acu.1_Silent_p.R98R|IKZF1_uc003tox.4_Silent_p.R185R|IKZF1_uc022acv.1_Silent_p.R98R|IKZF1_uc022acw.1_Silent_p.R98R|IKZF1_uc022acx.1_Silent_p.R185R|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Silent_p.R98R|IKZF1_uc003toy.4_Silent_p.R185R|IKZF1_uc003toz.4_Silent_p.R155R|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	185	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGCCGGAGGGACGCCCTCA	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""									20			4		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155014008	155014008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155014008G>A	uc001fgn.2	+	6	781	c.667G>A	c.(667-669)Gag>Aag	p.E223K	DCST1_uc010per.2_Missense_Mutation_p.E248K|DCST1_uc010pes.2_Missense_Mutation_p.E198K	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	223						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGGGCAGGGAGGCCCGCCA	0.607000														87			8		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3221983	3221983	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3221983C>T	uc021xkv.1	+	52	7462	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2439					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCGTGGAGTTCCTCCAGGAAA	0.512000														109			8		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333927	220333927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220333927G>A	uc010fwg.3	+	12	3541	c.3541G>A	c.(3541-3543)Gag>Aag	p.E1181K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1181					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGAGCAGGGTGAGCTGGAGCG	0.652000														29			5		0	0	1	0	0
TPMT	7172	broad.mit.edu	37	6	18139944	18139944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:18139944G>A	uc003ncm.3	-	4	526	c.371C>T	c.(370-372)tCt>tTt	p.S124F	TPMT_uc010jpm.1_Missense_Mutation_p.S124F	NM_000367	NP_000358	P51580	TPMT_HUMAN	Homo sapiens thiopurine S-methyltransferase (TPMT), mRNA.	124					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	GTTCCCCGAAGAACTCTGTAA	0.338000														18			5		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72532279	72532279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:72532279C>T	uc010qjm.1	-	9	1354	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	C10orf27_uc001jrj.1_Missense_Mutation_p.E321K|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.E320K	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	321					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						CCTGGTTTTTCGCTTTTTGTA	0.488000														59			5		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578439	44578439	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44578439C>T	uc003tlb.3	-	1	1613	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	NPC1L1_uc011kbw.2_Silent_p.K519K|NPC1L1_uc003tlc.3_Silent_p.K519K|NPC1L1_uc003tld.3_Silent_p.K519K	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	519					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAAAATGGTCCTTCCAGTCGA	0.612000														86			10		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17715363	17715363	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17715363T>G	uc001bak.1	+	7	950	c.950T>G	c.(949-951)gTt>gGt	p.V317G		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	309					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCTCTGGAGGTTTACCTGTGC	0.542000														20			7		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519170	64519170	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64519170C>T	uc001xgl.3	+	47	8769	c.8539C>T	c.(8539-8541)Caa>Taa	p.Q2847*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.Q2847*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.Q2880*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2847					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGAAGTTTCAACTTATGGT	0.363000														37			6		0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638727	65638727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65638727C>T	uc001ofy.4	-	3	527	c.268G>A	c.(268-270)Gac>Aac	p.D90N	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	90					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CCGTGTAGGTCGTTGATGACG	0.647000														162			8		0	0	1	0	0
AVPI1	60370	broad.mit.edu	37	10	99439560	99439560	+	Missense_Mutation	SNP	C	T	T	rs150249445		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99439560C>T	uc001koi.2	-	2	606	c.103G>A	c.(103-105)Gag>Aag	p.E35K	AVPI1_uc001koh.1_Missense_Mutation_p.E35K	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN	Homo sapiens arginine vasopressin-induced 1 (AVPI1), mRNA.	35					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TGCAGCAGCTCGGCGTCCTGG	0.672000														11			3		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800682	185800682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:185800682C>T	uc002uph.3	+	3	1153	c.559C>T	c.(559-561)Cca>Tca	p.P187S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	187						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						TGCTGAAGATCCAGAAAGTGC	0.363000														10			6		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074473	32074473	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:32074473G>A	uc003jhl.3	+	17	3649	c.3261G>A	c.(3259-3261)ttG>ttA	p.L1087L	PDZD2_uc003jhm.3_Silent_p.L1087L|PDZD2_uc011cnx.1_Silent_p.L913L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1087					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CACCCAAATTGGAATACACAG	0.592000														122			12		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3900705	3900705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3900705G>A	uc002cvv.3	-	1	595	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	CREBBP_uc002cvw.3_Missense_Mutation_p.P131S	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	131					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCAGGCTGGGGGCTGAAGAA	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							91			8		0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618790	170618790	+	Missense_Mutation	SNP	C	T	T	rs143120417		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:170618790C>T	uc003ish.3	+	8	2027	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	CLCN3_uc003isi.3_Missense_Mutation_p.R490C|CLCN3_uc011cka.2_Missense_Mutation_p.R463C|CLCN3_uc011cjz.2_Missense_Mutation_p.R473C|CLCN3_uc003isj.2_Missense_Mutation_p.R463C	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	490					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CATTCCTGATCGTCCAGCAGG	0.403000														38			5		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932392	110932392	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:110932392C>T	uc003hzy.4	+	23	3857	c.3405C>T	c.(3403-3405)ccC>ccT	p.P1135P	EGF_uc011cfu.2_Silent_p.P1093P|EGF_uc011cfv.2_Silent_p.P1094P|EGF_uc010imk.3_Missense_Mutation_p.P257L	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	1135					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGCAGGAGCCCCAGTTATGTG	0.453000														30			10		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599089	6599089	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6599089G>A	uc002gdj.3	-	6	1099	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	SLC13A5_uc010clq.3_Silent_p.F294F|SLC13A5_uc002gdk.3_Silent_p.F320F|SLC13A5_uc010vtf.2_Silent_p.F337F|SLC13A5_uc002gdl.1_Silent_p.F319F	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	337						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGCCGGGCATGAAGCCGGGGT	0.582000														137			8		0	0	1	0	0
RAB2A	5862	broad.mit.edu	37	8	61496785	61496785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:61496785C>T	uc003xud.2	+	3	503	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	RAB2A_uc011lef.2_Missense_Mutation_p.R45C	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	69					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AGAATCCTTTCGTTCCATCAC	0.368000														81			4		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610138	95610138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:95610138C>T	uc004asu.1	-	4	1080	c.931G>A	c.(931-933)Gat>Aat	p.D311N	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.D313N|ZNF484_uc004asv.1_Missense_Mutation_p.D275N|ZNF484_uc010mrb.1_Missense_Mutation_p.D275N	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGGGAAAAATCCTTCTCATAT	0.433000														38			11		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311534	48311534	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48311534C>T	uc003toq.2	+	16	2295	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	ABCA13_uc010kyr.2_Silent_p.F260F|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	757					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCCAGTTTCCACAGCCTCC	0.373000														10			6		0	0	1	0	0
KLC1	3831	broad.mit.edu	37	14	104121127	104121127	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:104121127C>T	uc001yno.3	+	1	534	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	KLC1_uc010tyd.1_Silent_p.L235L|KLC1_uc010tye.1_Silent_p.L72L|KLC1_uc001ynm.1_Silent_p.L76L|KLC1_uc010tyf.2_Silent_p.L76L	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	76					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CCGGAAGTCACTGGAGATGTT	0.418000														38			4		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005181	42005181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:42005181C>T	uc011kbh.2	-	14	3581	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	GLI3_uc011kbg.2_Missense_Mutation_p.E1105K	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1164					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1164K(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGCTGACTTCGTTCCACTGA	0.677000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					206			16		0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93758803	93758803	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:93758803T>G	uc003drc.3	+	5	1054	c.769T>G	c.(769-771)Ttc>Gtc	p.F257V	ARL13B_uc010hop.3_Missense_Mutation_p.F108V|ARL13B_uc003drf.3_Missense_Mutation_p.F257V|ARL13B_uc003drg.3_Missense_Mutation_p.F154V|ARL13B_uc003drd.3_Missense_Mutation_p.F150V|ARL13B_uc003dre.3_Missense_Mutation_p.F242V	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	257							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AACGAATCCTTTCCAGCCAAT	0.393000														46			5		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647091	81647091	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81647091C>T	uc001szl.1	+	13	1816	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	ACSS3_uc001szm.1_Silent_p.I574I|ACSS3_uc001szn.1_Silent_p.I257I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	575						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TACAGTCAATCCTTTCCCATG	0.358000														77			4		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156757823	156757823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156757823C>T	uc021ygm.1	+	19	2365	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	CYFIP2_uc011ddn.2_Missense_Mutation_p.R718C|CYFIP2_uc011ddo.2_Missense_Mutation_p.R548C|CYFIP2_uc021ygn.1_Missense_Mutation_p.R743C|CYFIP2_uc021ygo.1_Missense_Mutation_p.R743C|CYFIP2_uc003lwt.3_Missense_Mutation_p.R647C|CYFIP2_uc011ddp.2_Missense_Mutation_p.R478C	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	769					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCGTCCAATCGCTATGAAAC	0.493000														152			26		0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148912	203148912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203148912C>T	uc001gzi.2	-	8	1159	c.988G>A	c.(988-990)Gac>Aac	p.D330N	CHI3L1_uc001gzk.1_Missense_Mutation_p.D66N|CHI3L1_uc001gzj.2_Missense_Mutation_p.D269N|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	330					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTTTCCTGGTCGTCGTATCCT	0.582000														104			22		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44580782	44580782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:44580782C>T	uc002lco.3	+	2	283	c.89C>T	c.(88-90)cCg>cTg	p.P30L	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	102	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P30L(2)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATAATTTACCGCAAAGAAGT	0.388000														102			6		0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293788	71293788	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71293788G>A	uc001oqu.3	-	0	134	c.96C>T	c.(94-96)ggC>ggT	p.G32G		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	32						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGGAGCCACAGCCCC	0.657000														67			8		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897526	5897526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5897526C>T	uc002wmg.3	+	2	457	c.151C>T	c.(151-153)Cca>Tca	p.P51S	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	51						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTCCAGCGCTCCACCCATCAC	0.562000														53			5		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415432	46415432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46415432G>A	uc003cpo.4	+	2	1161	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	CCR5_uc010hjd.3_Missense_Mutation_p.E347K|CCR5_uc021wxb.1_Missense_Mutation_p.E347K	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	347					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGGGGAGCAGGAAATATCTGT	0.532000														34			5		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137155	126137155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:126137155G>A	uc001uhe.1	+	7	2076	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D202N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	690						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGCTGCCCTGGATGTTCTTCA	0.602000														39			5		0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80373278	80373278	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80373278G>A	uc002ket.2	-	1	452	c.300C>T	c.(298-300)ttC>ttT	p.F100F	C17orf101_uc010dip.2_Intron|C17orf101_uc002keu.2_Silent_p.F100F|HEXDC_uc002kev.4_5'Flank	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	100						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F100F(2)|p.R99S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						AACTACCTTCGAACCTGCGGT	0.567000														160			11		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17218677	17218677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17218677C>T	uc003wxm.3	-	3	656	c.417G>A	c.(415-417)atG>atA	p.M139I		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	139	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TAGGGAGGCCCATCCGCGTGT	0.463000														53			4		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21119942	21119942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21119942G>A	uc002zsz.4	-	19	2455	c.2194C>T	c.(2194-2196)Cgg>Tgg	p.R732W		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	732					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTCTGTAACCGAGGCTTAGCT	0.532000														72			8		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071241	104071241	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104071241T>A	uc001tjw.3	+	24	2843	c.2657T>A	c.(2656-2658)aTc>aAc	p.I886N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	886	EGF-like 8.				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						GCAGAATGCATCAAAACTGGC	0.507000														77			9		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91809816	91809816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91809816C>T	uc002bqv.3	+	7	1904	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	SV2B_uc002bqt.3_Missense_Mutation_p.S338F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.S187F	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	338					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTTCAGGTTTCCAACATCAAA	0.368000														150			45		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33252005	33252005	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33252005G>A	uc001bvy.1	-	7	1652	c.864C>T	c.(862-864)acC>acT	p.T288T	YARS_uc001bvx.1_5'Flank	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	288					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AAGCTGTGTAGGTTTTGTTTC	0.398000														47			4		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21108375	21108375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:21108375C>T	uc001iqi.3	-	19	2430	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	678					regulation of actin filament length		actin binding|structural constituent of muscle			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						CTCCTGGTTTCGCCTCACTCT	0.433000														55			5		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092552	101092552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101092552G>A	uc011mrk.1	-	14	1354	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	332	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.Q332E(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AAGTCATGCTGAGTTTCAGGC	0.542000														47			7		0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88819996	88819996	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88819996G>A	uc001keh.3	-	8	1450	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	GLUD1_uc001keg.3_Silent_p.I233I|GLUD1_uc010qmp.2_Silent_p.I267I	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	400					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCAGCAATGATCTGCAAGA	0.453000														107			7		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793153	53793153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53793153C>T	uc002qbk.3	-	0	1723	c.475G>A	c.(475-477)Gac>Aac	p.D159N		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	159					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TCTGTAGTGTCTTTCTGAGCG	0.418000														74			12		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049697	42049698	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42049697_42049698TC>AT	uc001cgz.4	-	3	1984_1985	c.771_772GA>AT	c.(769-774)gagatg>gaATtg	p.M258L	HIVEP3_uc001cha.4_Missense_Mutation_p.M258L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	258	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTGGGTACATCTCGCCACCCA	0.564000														79			5		0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44605609	44605609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44605609G>A	uc003tlg.3	-	13	2279	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.P506S	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	546					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CCTCAGGAGGGCTTGGCTGTG	0.557000											OREG0018039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			4		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140637883	140637883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140637883C>T	uc011mfc.2	+	4	921	c.884C>T	c.(883-885)aCc>aTc	p.T295I	EHMT1_uc004coa.3_Missense_Mutation_p.T295I|EHMT1_uc004cob.1_Missense_Mutation_p.T264I|EHMT1_uc010ncn.1_Non-coding_Transcript	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	295					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGAATGGGAACCTATAGCCTG	0.383000														18			4		0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373228	27373228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27373228C>T	uc010ylg.2	+	1	517	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	154					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGCACCCTCTCAAGGTAAG	0.627000														221			19		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44190569	44190569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44190569C>T	uc003tkl.2	-	3	939	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	GCK_uc003tkj.1_Missense_Mutation_p.E156K|GCK_uc003tkk.1_Missense_Mutation_p.E158K	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	157					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.E158K(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCGATGTCTTCGTGCCTCACA	0.567000														359			20		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976227	46976227	+	Silent	SNP	C	T	T	rs138324077		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46976227C>T	uc001cpx.3	+	1	264	c.249C>T	c.(247-249)ctC>ctT	p.L83L	DMBX1_uc001cpw.3_Silent_p.L78L	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	83	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTCAGCAGCTCGAGGCCCTGG	0.592000														40			4		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35538187	35538187	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:35538187G>A	uc002hnm.3	-	39	4967	c.4776C>T	c.(4774-4776)tcC>tcT	p.S1592S	ACACA_uc002hnk.3_Silent_p.S1514S|ACACA_uc002hnl.3_Silent_p.S1534S|ACACA_uc002hnn.3_Silent_p.S1592S|ACACA_uc002hno.3_Silent_p.S1629S|ACACA_uc010cuy.3_Silent_p.S286S	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1592					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGTCCCTAAGGATTGTGCCT	0.453000														89			23		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875357	33875357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33875357G>A	uc021wck.1	-	3	1343	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	409										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCTATAGAGCCCAGGAGGG	0.627000														35			7		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4260871	4260871	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4260871G>A	uc003smx.3	+	40	5841	c.5702_splice	c.e40-1	p.G1901_splice	SDK1_uc010kso.3_Splice_Site_p.G1157_splice|SDK1_uc003smy.3_Splice_Site_p.G388_splice	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1901					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TATCCCGCAGGATCCCCGGGC	0.617000														28			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390934	197390934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390934C>T	uc001gtz.3	+	5	2185	c.1976C>T	c.(1975-1977)tCg>tTg	p.S659L	CRB1_uc010poz.2_Missense_Mutation_p.S590L|CRB1_uc009wza.3_Missense_Mutation_p.S547L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S659L|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S140L|CRB1_uc001gub.1_Missense_Mutation_p.S308L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	659	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						GAGAACATCTCGTCTGGCTCA	0.448000														49			7		0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432104	6432104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6432104G>A	uc010dus.3	-	1	405	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	107					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GTGCCCGTGCGAGACACCGCC	0.617000														49			7		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917964	56917964	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56917964G>A	uc002ekd.4	+	13	1702	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	SLC12A3_uc010ccm.3_Nonsense_Mutation_p.W558*|SLC12A3_uc010ccn.3_Nonsense_Mutation_p.W557*	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	558					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGCCCAGGGTGGAGACCTTCA	0.607000														46			7		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353692	45353692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45353692C>T	uc002xsl.3	+	1	114	c.17C>T	c.(16-18)cCt>cTt	p.P6L		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	6						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CACTCCCCACCTGTCCTGCCT	0.512000														79			13		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614755	247614755	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247614755A>C	uc010pyx.2	-	0	530	c.530T>G	c.(529-531)gTg>gGg	p.V177G		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	177					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)			GTTGTTCAGCACCTGCCGCCC	0.592000														18			3		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420104	216420104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216420104G>A	uc001hku.1	-	12	3019	c.2632C>T	c.(2632-2634)Cgc>Tgc	p.R878C	USH2A_uc001hkv.3_Missense_Mutation_p.R878C	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	878	Laminin EGF-like 7.				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)		TGATTACAGCGAAGACCTGTT	0.448000										HNSCC(13;0.011)				46			14		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622907	65622907	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65622907G>A	uc002aos.2	-	9	1986	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	578	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAGGTTGTAGGAGGAGACGG	0.667000														118			10		0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65055950	65055950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65055950C>T	uc001xhl.1	+	11	1259	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	PPP1R36_uc001xhm.1_Missense_Mutation_p.S118L	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	388																	AACACAAAATCATTTGGGAGA	0.433000														37			5		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155750078	155750078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155750078G>A	uc003qqm.3	-	8	1098	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	332	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.S332L(2)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCACTCCAGCGAAGATATGGC	0.577000														67			4		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867026	29867026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29867026G>A	uc002kxl.3	-	3	1590	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	FAM59A_uc002kxk.2_Missense_Mutation_p.P512S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	512	Pro-rich.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GGAGGTGGAGGTAGGGCAGTA	0.493000														55			7		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402786	133402786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133402786G>A	uc002ttl.3	+	1	1438	c.969G>A	c.(967-969)atG>atA	p.M323I	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	323						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCGTACATGATCCTCCTCC	0.587000														53			6		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838541	22838541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22838541G>A	uc001bft.2	+	11	2886	c.2375G>A	c.(2374-2376)gGt>gAt	p.G792D	ZBTB40_uc001bfu.2_Missense_Mutation_p.G792D|ZBTB40_uc009vqi.1_Missense_Mutation_p.G680D|ZBTB40_uc001bfv.1_Missense_Mutation_p.G421D	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	792					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CATGGTGCAGGTGGAGAGCCC	0.532000														55			4		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573729	38573729	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38573729C>T	uc002ohk.3	+	2	2033	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	508					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGATTACTTCGTGGGCAAAG	0.622000														52			6		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688996	49688996	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49688996C>T	uc003cxe.4	+	4	2121	c.2007C>T	c.(2005-2007)taC>taT	p.Y669Y		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	669					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAAGCCTTACTCTCAGGATG	0.582000														63			6		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81214828	81214828	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81214828G>A	uc002fgh.1	-	11	2046	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_5'UTR|PKD1L2_uc002fgj.3_Silent_p.L682L|PKD1L2_uc002fgl.1_5'UTR	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	682	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.L681L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGACCCTGAGCAGAATGT	0.532000														73			5		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609803	42609803	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42609803G>A	uc003bcj.1	-	0	1643	c.1509C>T	c.(1507-1509)ggC>ggT	p.G503G	TCF20_uc003bck.1_Silent_p.G503G	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTGTGAGGAGCCTTCAGAAT	0.512000														236			32		0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21270045	21270045	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21270045C>T	uc021rop.1	-	0	183	c.183G>A	c.(181-183)cgG>cgA	p.R61R	RNASE1_uc001vyf.3_Silent_p.R61R|RNASE1_uc001vyg.3_Silent_p.R61R|RNASE1_uc001vyh.3_Silent_p.R61R|RNASE1_uc001vyi.3_Silent_p.R61R	NM_198235	NP_937878	P07998	RNAS1_HUMAN	Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA.	61						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		GTGTCATATTCCGGCGCCTCA	0.542000														52			13		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168137	115168137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115168137G>A	uc001efd.1	-	3	1171	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P157S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	157										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		TTATCTGGGGGAAGTGCTTCT	0.368000														30			4		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263103	42263103	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42263103C>T	uc003bbi.3	+	1	526	c.357C>T	c.(355-357)acC>acT	p.T119T	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	119	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTCTCCCACCTCAGTTCCCA	0.572000														100			20		0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646358	19646358	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19646358C>T	uc002nmt.2	+	5	636	c.564C>T	c.(562-564)gcC>gcT	p.A188A	YJEFN3_uc021uqw.1_Silent_p.A187A|YJEFN3_uc010ecf.2_Silent_p.A138A|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	188	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						TTAACGAAGCCTATGGGCTGG	0.697000														26			5		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48704023	48704023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48704023C>T	uc002irk.1	+	37	7417	c.7045C>T	c.(7045-7047)Cct>Tct	p.P2349S	CACNA1G_uc002irj.1_Missense_Mutation_p.P2143S|CACNA1G_uc002irl.1_Missense_Mutation_p.P2233S|CACNA1G_uc002irm.1_Missense_Mutation_p.P2270S|CACNA1G_uc002irn.1_Missense_Mutation_p.P2215S|CACNA1G_uc002iro.1_Missense_Mutation_p.P2222S|CACNA1G_uc002irp.1_Missense_Mutation_p.P2304S|CACNA1G_uc002irq.1_Missense_Mutation_p.P2326S|CACNA1G_uc002irr.1_Missense_Mutation_p.P2256S|CACNA1G_uc002irs.1_Missense_Mutation_p.P2293S|CACNA1G_uc002irt.1_Missense_Mutation_p.P2238S|CACNA1G_uc002iru.1_Missense_Mutation_p.P2315S|CACNA1G_uc002irv.1_Missense_Mutation_p.P2245S|CACNA1G_uc002irw.1_Missense_Mutation_p.P2278S|CACNA1G_uc002irx.1_Missense_Mutation_p.P2090S|CACNA1G_uc002iry.1_Missense_Mutation_p.P2079S|CACNA1G_uc002isg.1_Missense_Mutation_p.P2117S|CACNA1G_uc002ish.1_Missense_Mutation_p.P2124S|CACNA1G_uc002isi.1_Missense_Mutation_p.P2112S|CACNA1G_uc002irz.1_Missense_Mutation_p.P2162S|CACNA1G_uc002isa.1_Missense_Mutation_p.P2135S|CACNA1G_uc002isd.1_Missense_Mutation_p.P2144S|CACNA1G_uc002isb.1_Missense_Mutation_p.P2176S|CACNA1G_uc002isc.1_Missense_Mutation_p.P2251S|CACNA1G_uc002ise.1_Missense_Mutation_p.P2172S|CACNA1G_uc002isf.1_Missense_Mutation_p.P2199S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2349					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)	CTCTGGCCCCCCTGACAGCAT	0.657000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			8		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057934	53057934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53057934C>T	uc010epq.1	+	4	1942	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGACTTCATACTGGAGA	0.368000														78			5		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9083006	9083006	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9083006G>A	uc009vmo.1	-	2	282	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	94						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGGCCCACGAGCAATGACC	0.537000														149			6		0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9000758	9000758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9000758G>A	uc002qzg.1	-	11	1455	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	MBOAT2_uc010yix.1_3'UTR	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	441					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAACGTGAGTGATGGTTTTAT	0.313000														58			4		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386398	56386398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56386398G>A	uc002ivx.4	-	21	5106	c.4235C>T	c.(4234-4236)cCt>cTt	p.P1412L	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1352L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1412L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1412						mitochondrion	benzodiazepine receptor binding	p.P1412A(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCTTCTCAGGGGAGCCCCC	0.647000														86			19		0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476242	228476242	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228476242G>A	uc002vph.3	-	2	556	c.321C>T	c.(319-321)gcC>gcT	p.A107A	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	107						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						AGAGAGTTTCGGCTGAAGCCT	0.547000														97			25		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060436	128060436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128060436G>A	uc003eki.3	+	4	1185	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	383						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCTGTCCAAGGATTTGACACC	0.532000														38			5		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655783	12655783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:12655783C>T	uc002gno.2	+	9	1477	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I	MYOCD_uc002gnn.2_Missense_Mutation_p.T393I|MYOCD_uc002gnp.1_Missense_Mutation_p.T297I|MYOCD_uc002gnq.2_Missense_Mutation_p.T112I	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	393	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GTGTCAGGCACCAAAACGGCT	0.478000														45			5		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40317395	40317395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40317395G>A	uc002omj.3	-	8	1608	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L	DYRK1B_uc002omi.3_Missense_Mutation_p.P415L|DYRK1B_uc002omk.3_Missense_Mutation_p.P403L	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	443					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCTGCCTGCCGGGCCCGTGTT	0.721000														12			3		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53995570	53995570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53995570C>T	uc001cvr.1	-	3	1418	c.851G>A	c.(850-852)aGg>aAg	p.R284K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	284					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGTGTGGCTCCTCAGGTGGAT	0.647000														44			13		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23826108	23826108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:23826108G>A	uc003gqs.3	-	5	901	c.781C>T	c.(781-783)Cct>Tct	p.P261S	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	261					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGGGTCAGAGGAAGAGATAAA	0.348000														48			6		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263248	34263248	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:34263248C>T	uc002nus.4	+	4	1060	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CHST8_uc002nut.4_Silent_p.F185F|CHST8_uc002nuu.3_Silent_p.F185F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	185					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCCGTATCTTCGTGGAGGACC	0.706000														43			9		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15569183	15569183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15569183C>T	uc002nbe.2	-	7	930	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	282	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ATCCAGCGGTCTCTCTCAGCG	0.632000														15			4		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448685	91448685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91448685C>T	uc010bnz.2	+	2	452	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	MAN2A2_uc010boa.3_Missense_Mutation_p.P155S|MAN2A2_uc002bqc.3_Missense_Mutation_p.P113S|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	113					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCCATCTCCCCGCAGGACTG	0.657000														205			16		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411090	5411090	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5411090C>T	uc010qzc.2	+	0	484	c.462C>T	c.(460-462)gtC>gtT	p.V154V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	154						integral to membrane	olfactory receptor activity	p.V154L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAGTGGTCAGAGCAGGCC	0.547000														163			6		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3224155	3224155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3224155C>T	uc021xkv.1	+	53	7556	c.7411C>T	c.(7411-7413)Ctc>Ttc	p.L2471F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2471					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGGCCACCCTCCTTGGTGT	0.532000														66			5		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298147	36298147	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36298147G>A	uc003oly.3	-	1	499	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	107										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCGTCCTCACGAAGAAGTTCA	0.632000														69			7		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Silent	SNP	C	T	T	rs139135884	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57947582C>T	uc021qjm.1	+	0	666	c.666C>T	c.(664-666)atC>atT	p.I222I	OR9Q1_uc001nmj.3_Silent_p.I222I	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512000														30			8		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258333	56258333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56258333C>T	uc001nix.1	-	0	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGATTAATTTCATTGGGGCCA	0.498000														80			11		0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41318520	41318520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41318520C>T	uc003oqh.2	+	4	836	c.749C>T	c.(748-750)tCc>tTc	p.S250F	NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	250					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.V249V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					acctcagtttcctcacctgta	0.433000														19			4		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034751	91034751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91034751C>T	uc002bpl.1	+	33	4536	c.4435C>T	c.(4435-4437)Cag>Tag	p.Q1479*	IQGAP1_uc010uqg.1_Nonsense_Mutation_p.Q100*	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1479	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAACAAATACCAGGAACTGAT	0.502000														43			5		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3021832	3021832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3021832G>A	uc022brz.1	+	8	1268	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	ARSF_uc004cre.2_Missense_Mutation_p.G378R|ARSF_uc004crf.2_Missense_Mutation_p.G378R	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	378						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGGAAGGTGGAATCCGCGT	0.423000														11			9		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115531816	115531816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115531816C>T	uc001lat.2	+	6	1184	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	C10orf81_uc009xyc.2_Missense_Mutation_p.H126Y|C10orf81_uc001lar.2_Missense_Mutation_p.H214Y|C10orf81_uc001las.2_Missense_Mutation_p.H126Y|C10orf81_uc001lau.2_Missense_Mutation_p.H28Y	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	208										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		GGAAGAGAATCATTATCTTAC	0.373000														31			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813268	237813268	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237813268T>G	uc001hyl.1	+	49	7724	c.7604T>G	c.(7603-7605)tTt>tGt	p.F2535C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2535	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.A2534S(1)|p.A2534V(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)			GCTCCTCTCTTTGCTGGCACA	0.483000														97			17		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72738419	72738419	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72738419G>A	uc010wrc.2	+	2	436	c.246G>A	c.(244-246)gtG>gtA	p.V82V	RAB37_uc002jlc.2_Silent_p.V70V|RAB37_uc002jld.2_Silent_p.V70V|RAB37_uc010dfu.3_Silent_p.V70V|RAB37_uc010wrb.2_Silent_p.V45V|RAB37_uc002jlk.3_Silent_p.V77V|RAB37_uc010wre.2_Silent_p.V40V	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	77					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TGGATGGCGTGAGAGTGAAGC	0.587000														22			4		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671347	7671347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7671347C>T	uc002giu.1	+	21	3819	c.3805C>T	c.(3805-3807)Cgt>Tgt	p.R1269C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1269	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGGCTGTTTCGTCGCCTCAC	0.582000														50			4		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039181	5039181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5039181G>A	uc002gau.1	+	16	2852	c.622G>A	c.(622-624)Gca>Aca	p.A208T	USP6_uc002gav.1_Missense_Mutation_p.A208T|USP6_uc010ckz.1_5'UTR|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	208	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGCATTCTGGGCACTGGTGCA	0.627000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									63			8		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190147	66190147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66190147C>T	uc001ohx.1	+	3	609	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	145					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTATCTAGATCGCCTCTTCCG	0.552000														31			5		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107811878	107811878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107811878G>A	uc022ccg.1	+	4	498	c.296G>A	c.(295-297)gGa>gAa	p.G99E	COL4A5_uc004enz.1_Missense_Mutation_p.G99E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	99	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTCCTGGATTTCCAGGG	0.323000									Alport syndrome with Diffuse Leiomyomatosis					19			6		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264116	155264116	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155264116G>A	uc001fkb.4	-	6	1065	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	PKLR_uc001fka.4_Silent_p.I311I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	342			I -> F (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTGGGATCTCGATGCCTAGGT	0.572000														26			4		0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65562600	65562600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65562600G>A	uc001ofp.3	+	3	932	c.592G>A	c.(592-594)Ggt>Agt	p.G198S	OVOL1_uc001ofq.3_Missense_Mutation_p.G136S	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	198					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GAAGATCCATGGTGTGCAGCA	0.622000														42			6		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123509211	123509211	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:123509211A>T	uc003vlc.3	+	2	1522	c.884A>T	c.(883-885)gAt>gTt	p.D295V	HYAL4_uc011knz.2_Missense_Mutation_p.D295V	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	295					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACATCTCATGATTATGCTCTG	0.438000														32			4		0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330650	66330650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66330650G>A	uc021qma.1	+	10	1459	c.946G>A	c.(946-948)Gag>Aag	p.E316K	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	898					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCTCTATGGGGAGAGCGACCT	0.622000														40			11		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441559	61441559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:61441559G>A	uc002sbe.3	-	67	8340	c.8318C>T	c.(8317-8319)tCc>tTc	p.S2773F		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2773					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)			GAAATATGTGGAAAACATCAG	0.373000														35			4		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561300	219561300	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219561300C>T	uc002viu.3	+	21	2841	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	STK36_uc002viv.3_Intron|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	854					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)		GCCTCCTTATCCTTCTGTTGC	0.507000														121			6		0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932653	153932653	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153932653G>T	uc001fdl.3	-	4	1362	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.S299Y|SLC39A1_uc001fdj.3_Missense_Mutation_p.S299Y|SLC39A1_uc001fdk.3_Missense_Mutation_p.S299Y|SLC39A1_uc010pee.2_Missense_Mutation_p.S197Y	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	299						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCTTTGCTCAGAACTGGCCAG	0.567000														84			23		3.5997e-14	3.65282e-14	1	1	0
TSPY2	64591	broad.mit.edu	37	Y	6114350	6114350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrY:6114350G>A	uc004fqr.1	+	0	87	c.41G>A	c.(40-42)aGg>aAg	p.R14K	TTTY23_uc004fqq.1_5'Flank|TSPY2_uc004fqs.1_Missense_Mutation_p.R14K	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN	Homo sapiens testis specific protein, Y-linked 2 (TSPY2), mRNA.	14					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						GTGCCAGAGAGGCTGCGGCAG	0.716000														30			7		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99697791	99697791	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:99697791G>A	uc001yga.3	-	2	798	c.531C>T	c.(529-531)ctC>ctT	p.L177L	BCL11B_uc001ygb.3_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	177						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGCAGGGCGGGAGAGCGCCCA	0.701000			T	TLX3	T-ALL									16			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207695	140207695	+	Missense_Mutation	SNP	G	A	A	rs17844300		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140207695G>A	uc003lho.2	+	0	46	c.19G>A	c.(19-21)Gat>Aat	p.D7N	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_Missense_Mutation_p.D7N|PCDHAC2_uc011dab.2_Missense_Mutation_p.D7N	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCCCGGAGGATAGATTGGG	0.488000														112			16		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37535634	37535634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:37535634G>A	uc002xje.3	+	7	1024	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E237K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	279					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCAGATGGCAGAGCTATTGGT	0.522000														182			11		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45895749	45895749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45895749G>A	uc002ilx.1	-	6	687	c.484C>T	c.(484-486)Cct>Tct	p.P162S	OSBPL7_uc002ilw.1_5'Flank	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	162					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGCACCAGGAACCTGTGGG	0.607000														86			8		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216545	8216545	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8216545C>T	uc002glc.3	+	2	1062	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Silent_p.L303L|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	303					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGATCTTGATCTGCTTTCTGA	0.592000														30			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432220	10432220	+	Silent	SNP	G	A	A	rs148640299		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10432220G>A	uc010coi.3	-	26	3659	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F1177F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1177					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATTTTCTGGAACTCAGCCT	0.607000														87			8		0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228112043	228112043	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228112043C>T	uc001hri.2	-	2	499	c.411G>A	c.(409-411)ctG>ctA	p.L137L		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	137					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACGCCTTGGCCAGTGCGTGCG	0.677000														60			10		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371143	48371143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48371143G>A	uc001jex.3	+	1	773	c.611G>A	c.(610-612)tGg>tAg	p.W204*	ZNF488_uc021ppx.1_Nonsense_Mutation_p.W204*	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTCGCTTGTTGGGGTCGACTT	0.542000														89			14		0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7717892	7717892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:7717892C>T	uc003wry.3	+	2	405	c.370C>T	c.(370-372)Cga>Tga	p.R124*	SPAG11B_uc003wrx.3_Intron|SPAG11B_uc003wrz.3_Intron|SPAG11B_uc003wsa.3_Intron|SPAG11B_uc003wsb.3_Intron			Q08648	SG11B_HUMAN	Homo sapiens sperm associated antigen 11A (SPAG11A), mRNA.	80					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCAGGAGGCTCGAGGACCCTC	0.473000														49			7		0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661130	3661130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:3661130G>A	uc001lyb.1	-	1	922	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ART5_uc001lyc.1_Missense_Mutation_p.R177C|ART5_uc001lyd.3_Missense_Mutation_p.R177C|ART5_uc009yea.3_Missense_Mutation_p.R177C	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	177						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCCAAGCGGACAGAGTCT	0.607000														51			4		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505260	70505260	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:70505260C>T	uc001dep.3	+	18	3669	c.3639C>T	c.(3637-3639)tcC>tcT	p.S1213S	LRRC7_uc009wbg.3_Silent_p.S497S|LRRC7_uc001deq.3_Silent_p.S454S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1213						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						ACGGTGCCTCCCAAACCAGGC	0.463000														18			5		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160535240	160535240	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160535240C>T	uc001fwh.4	-	1	421	c.342G>A	c.(340-342)caG>caA	p.Q114Q	CD84_uc001fwf.4_Silent_p.Q114Q|CD84_uc009wtn.3_Silent_p.Q114Q|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Silent_p.Q114Q|CD84_uc001fwj.3_Silent_p.Q114Q|CD84_uc001fwk.3_Silent_p.Q114Q	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	114					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGGATCAGCCTGTGTATTTA	0.443000														30			5		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201915304	201915304	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201915304C>A	uc021phl.1	-	0	413	c.165G>T	c.(163-165)acG>acT	p.T55T	LMOD1_uc021phm.1_Silent_p.T55T|LMOD1_uc010ppu.2_Silent_p.T55T	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	55					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTGTTTCTCCGTCTGGTTTC	0.572000														75			13		4.36969e-10	4.43159e-10	1	1	0
TST	7263	broad.mit.edu	37	22	37407153	37407153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37407153G>A	uc003aqg.3	-	1	1504	c.809C>T	c.(808-810)gCc>gTc	p.A270V	TST_uc003aqh.3_Missense_Mutation_p.A270V	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	270	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						ATCGTACACGGCCACATCAGG	0.642000														43			11		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455332	27455332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27455332C>T	uc002rji.3	+	17	2824	c.2662C>T	c.(2662-2664)Cgc>Tgc	p.R888C	CAD_uc010eyw.3_Missense_Mutation_p.R825C	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	888	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTGGCTGTTCGCAAGCTGCG	0.507000														35			25		0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149937520	149937520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:149937520G>A	uc004fek.3	-	11	1034	c.806C>T	c.(805-807)cCa>cTa	p.P269L	CD99L2_uc011myb.2_Missense_Mutation_p.P186L|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.P259L|CD99L2_uc004fem.3_Missense_Mutation_p.P210L|CD99L2_uc004fen.3_Missense_Mutation_p.P187L	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	259					cell adhesion	cell junction|integral to membrane		p.P259Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCGGGCTGGTTCGGGCGG	0.622000														61			20		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191868	66191869	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66191868_66191869CC>TT	uc001ohx.1	+	6	1683_1684	c.1507_1508CC>TT	c.(1507-1509)ccc>TTc	p.P503F	NPAS4_uc010rpc.1_Missense_Mutation_p.P293F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	503					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGTTGACTCCCTGCACCTCC	0.589000														190			32		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	T	T	rs145638725		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158261127C>T	uc001fru.3	+	1	557	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	89					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000														31			11		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10875068	10875068	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10875068A>T	uc003mzn.4	-	4	753	c.681T>A	c.(679-681)atT>atA	p.I227I	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	227			I -> V (in dbSNP:rs35395043).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCTGCCCTGGAATAGGGAAGC	0.453000														49			9		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241402767	241402767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241402767C>T	uc002vyw.4	+	3	942	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	241					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		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;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TCCCCAGGTCCCCCTGGGCCC	0.697000														112			21		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2120980	2120980	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2120980G>A	uc002lva.3	-	13	1585	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	AP3D1_uc002luy.3_Silent_p.F363F|AP3D1_uc002luz.3_Silent_p.F454F	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	454					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACACGGCGAACTTGCGGA	0.662000														54			14		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18321934	18321934	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18321934G>A	uc010xqc.2	-	14	2424	c.1944C>T	c.(1942-1944)ccC>ccT	p.P648P	PDE4C_uc002nik.4_Silent_p.P648P|PDE4C_uc002nil.4_Silent_p.P648P|PDE4C_uc002nig.4_Silent_p.P363P|PDE4C_uc002nih.4_Silent_p.P418P|PDE4C_uc010ebk.3_Silent_p.P542P|PDE4C_uc002nii.4_Silent_p.P616P|PDE4C_uc002nif.4_Silent_p.P417P|PDE4C_uc010ebl.3_Silent_p.P362P	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	648					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.P648P(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CGTCCCGCTCGGGGTTGGTGA	0.582000														99			11		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239237	100239237	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100239237C>T	uc003hus.4	-	2	309	c.225G>A	c.(223-225)gaG>gaA	p.E75E	ADH1B_uc003hut.4_Silent_p.E35E|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Silent_p.E35E	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	75					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V74M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCCAACACTCTCCACGATGC	0.537000														47			5		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223491	118223491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:118223491C>T	uc004era.4	-	10	1702	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	568										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						CCAGCTCTATCGCCCAGGCCA	0.468000														28			4		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851302	234851302	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234851302G>A	uc002vvh.3	+	5	649	c.609G>A	c.(607-609)agG>agA	p.R203R	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.R153R|TRPM8_uc002vvj.3_Silent_p.R126R	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	203						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCATCAGCAGGAGTTCAGAGG	0.532000														115			7		0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44152287	44152287	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44152287G>A	uc002rtr.2	-	26	2873	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	LRPPRC_uc010yob.1_Silent_p.L839L	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	939					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATTTTTCCAGAGTTTCAACC	0.318000														248			16		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38208450	38208450	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:38208450T>A	uc002rqn.2	+	4	1415	c.1289T>A	c.(1288-1290)aTt>aAt	p.I430N	FAM82A1_uc002rqk.1_Missense_Mutation_p.I107N|FAM82A1_uc002rql.3_Missense_Mutation_p.I252N|FAM82A1_uc021vga.1_Missense_Mutation_p.I252N|FAM82A1_uc002rqm.3_Missense_Mutation_p.I107N	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	252						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GAAAGAGCTATTAATAGAGCA	0.328000														62			25		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17662831	17662831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17662831C>T	uc002zmk.1	-	7	1533	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CECR1_uc010gqu.1_Missense_Mutation_p.D441N|CECR1_uc011agi.1_Missense_Mutation_p.D399N|CECR1_uc002zmj.1_Missense_Mutation_p.D200N	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	441					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)				GCTGGGTCATCAGAGCTGATC	0.537000														49			4		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294772	110294772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110294772C>T	uc001dyr.2	-	14	1504	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	EPS8L3_uc001dys.2_Intron|EPS8L3_uc001dyq.2_Missense_Mutation_p.E428K|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	427						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)		TGTGTCTTCTCCTGAGGAAAG	0.552000														194			39		0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611856	42611856	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:42611856G>A	uc003xpj.3	-	4	842	c.486C>T	c.(484-486)atC>atT	p.I162I	CHRNA6_uc011lcw.2_Silent_p.I147I	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	162						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGAAAAAGGTGATATCCATAG	0.378000														75			5		0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48125808	48125808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:48125808G>A	uc004djb.1	+	6	644	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						TGACCCTGAGGAAGATGACGA	0.493000			T	SS18	synovial sarcoma									66			15		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397100	3397100	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3397100G>A	uc001akg.4	+	14	2327	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	ARHGEF16_uc001aki.3_Silent_p.V405V|ARHGEF16_uc001akj.3_Silent_p.V405V|ARHGEF16_uc010nzh.2_Silent_p.V397V	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	693					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTGTGGCCGTGGAGGGCAATG	0.662000														48			6		0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38172709	38172709	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38172709G>A	uc001cbr.3	+	9	878	c.771G>A	c.(769-771)gaG>gaA	p.E257E	CDCA8_uc001cbs.3_Silent_p.E257E	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	257					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGATCCAGAGGCCTTGGGAA	0.483000														123			38		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194231	60194231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:60194231C>T	uc001xen.1	-	2	1380	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	391					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGCGGTCCGGACCTGGCC	0.672000														13			3		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169528509	169528509	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169528509C>T	uc001ggg.1	-	4	757	c.612G>A	c.(610-612)caG>caA	p.Q204Q	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	204	F5/8 type A 1.|Plastocyanin-like 2.				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)	CAAACGTCTTCTGTGTCCCAC	0.443000														16			3		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624181	154624181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:154624181G>A	uc003inq.3	+	2	341	c.122G>A	c.(121-123)gGa>gAa	p.G41E	TLR2_uc003inr.3_Missense_Mutation_p.G41E|TLR2_uc003ins.3_Missense_Mutation_p.G41E|TLR2_uc021xtl.1_Missense_Mutation_p.G41E	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	41					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GGCAGCTCAGGATCTTTAAAC	0.502000														29			4		0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146495670	146495670	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:146495670T>C	uc001epd.2	-	2	336	c.262A>G	c.(262-264)Aga>Gga	p.R88G						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		ATCTGCTGTCTTAGGGCACTG	0.547000														33			3		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118550	4118550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:4118550C>T	uc003zhx.1	-	3	1641	c.928G>A	c.(928-930)Gat>Aat	p.D310N	GLIS3_uc003zic.1_Missense_Mutation_p.D310N|GLIS3_uc003zie.1_Missense_Mutation_p.D310N|GLIS3_uc010mhh.1_Missense_Mutation_p.D185N|GLIS3_uc003zid.1_Missense_Mutation_p.D88N|GLIS3_uc010mhi.1_Missense_Mutation_p.D117N|GLIS3_uc003zif.1_Missense_Mutation_p.D88N|GLIS3_uc003zih.1_Missense_Mutation_p.D88N|GLIS3_uc003zig.1_Missense_Mutation_p.D154N|GLIS3_uc003zhw.1_Missense_Mutation_p.D155N|GLIS3_uc003zhy.1_Missense_Mutation_p.D88N|GLIS3_uc003zhz.1_Missense_Mutation_p.D88N|GLIS3_uc003zib.1_Missense_Mutation_p.D154N|GLIS3_uc010mhg.1_Missense_Mutation_p.D88N	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	155					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCGATGCCATCGGACAGCGGG	0.612000														86			5		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57485864	57485864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57485864C>T	uc002xzw.3	+	12	3379	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R357C|GNAS_uc010gjq.3_Missense_Mutation_p.R330C|GNAS_uc002xzx.3_Missense_Mutation_p.R330C|GNAS_uc021wfn.1_Missense_Mutation_p.R389C|GNAS_uc021wfo.1_Missense_Mutation_p.R390C|GNAS_uc002yaa.3_Missense_Mutation_p.R374C|GNAS_uc021wfp.1_Missense_Mutation_p.R375C|GNAS_uc002yad.3_Missense_Mutation_p.R280C|GNAS_uc002yae.3_Missense_Mutation_p.R314C	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	389					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	p.R389C(1)|p.R1032C(1)		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)			CATGCACCTTCGTCAGTACGA	0.458000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				66			7		0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913002	29913002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29913002C>T	uc002dut.3	+	0	856	c.710C>T	c.(709-711)cCg>cTg	p.P237L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	237					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						ACTACCCCTCCGCCTCGGGGC	0.697000														65			7		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100082951	100082951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100082951G>A	uc003uvd.1	+	1	176	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	NYAP1_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	6																	CTCCTCTACCGAAAAACCAAG	0.672000														10			3		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22696803	22696803	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:22696803C>T	uc002yld.2	+	5	969	c.720C>T	c.(718-720)ccC>ccT	p.P240P	NCAM2_uc011acb.2_Silent_p.P98P|NCAM2_uc011acc.2_Silent_p.P265P	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	240	Ig-like C2-type 3.				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)		CTCCAGAACCCGCCATCTCCT	0.493000														18			3		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230637	147230637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147230637C>T	uc021ovl.1	-	0	710	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	GJA5_uc001eps.1_Missense_Mutation_p.R237Q|GJA5_uc001ept.1_Missense_Mutation_p.R237Q	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	237					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R237*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTTGACAAATCGCTGTCTGAT	0.547000														42			5		0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73687968	73687968	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:73687968G>A	uc001oup.1	-	4	812	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_003355	NP_003346	P55851	UCP2_HUMAN	Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA.	144					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CCTGAGCTTGGAATCGGACCT	0.627000														114			8		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455482	27455482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27455482C>T	uc002rji.3	+	17	2974	c.2812C>T	c.(2812-2814)Ctt>Ttt	p.L938F	CAD_uc010eyw.3_Missense_Mutation_p.L875F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	938	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGTCCTAGTCCTTGGCTCTGG	0.512000														83			8		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926661	157926661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:157926661C>T	uc003wno.3	-	8	1385	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PTPRN2_uc003wnp.3_Missense_Mutation_p.D405N|PTPRN2_uc003wnq.3_Missense_Mutation_p.D422N|PTPRN2_uc003wnr.3_Missense_Mutation_p.D384N|PTPRN2_uc011kwa.2_Missense_Mutation_p.D445N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	422						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCTCCATGTCGAGGGGCCTT	0.587000														65			12		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157987	59157987	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59157987C>T	uc010dps.1	+	0	353	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CDH20_uc002lif.2_Silent_p.F61F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	67	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F67F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAGTTTTTCGTTCTGGAAG	0.478000														61			17		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407222	50407222	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50407222G>A	uc002xwh.4	-	1	1901	c.1800C>T	c.(1798-1800)ggC>ggT	p.G600G	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	600					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						AAAAGGCTCGGCCACAGATCT	0.517000														57			4		0	0	1	0	0
AV4S1	0	broad.mit.edu	37	14	22981873	22981873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22981873G>A	uc021rpv.1	+	2	354	c.319G>A	c.(319-321)Gac>Aac	p.D107N	TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001weh.1_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Non-coding_Transcript|TCRA_uc001wfj.1_5'Flank|TCRA_uc001wfk.3_5'Flank|TCRA_uc001wfl.3_5'Flank|TCRA_uc010ajy.2_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		AAAGGGACACGACTTCATATT	0.408000														12			4		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779345	36779345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779345C>T	uc003cgi.2	-	1	1297	c.806G>A	c.(805-807)aGg>aAg	p.R269K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	269						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ATGTTTGCTCCTGCTCATGGG	0.587000														82			5		0	0	1	0	0
IL17F	112744	broad.mit.edu	37	6	52103617	52103617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52103617C>T	uc003pam.1	-	1	236	c.165G>A	c.(163-165)atG>atA	p.M55I	IL17F_uc003pal.1_Missense_Mutation_p.M1I	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	55					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGTCAAGCTTCATACTACCTC	0.502000														44			5		0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72551959	72551959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72551959C>T	uc009ytl.3	-	18	2323	c.2102G>A	c.(2101-2103)aGg>aAg	p.R701K	FCHSD2_uc010rrg.2_Missense_Mutation_p.R565K|FCHSD2_uc001oth.4_Missense_Mutation_p.R645K|ATG16L2_uc009ytj.2_Intron	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	701							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGGAGTATGCCTTGATGCCTG	0.408000														315			20		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22592148	22592148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22592148C>T	uc001wdd.2	+	1	380	c.233C>T	c.(232-234)tCt>tTt	p.S78F	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Missense_Mutation_p.S78F|TCRA_uc001wde.1_Missense_Mutation_p.S52F|TCRA_uc010aji.1_Missense_Mutation_p.S78F					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		GAAATGGCCTCTCTGATCATC	0.463000														16			4		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084834	53084834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:53084834G>A	uc003xqz.2	-	4	743	c.587C>T	c.(586-588)tCt>tTt	p.S196F	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.S161F|ST18_uc011lds.1_Missense_Mutation_p.S101F|ST18_uc003xra.2_Missense_Mutation_p.S196F|ST18_uc003xrb.2_Missense_Mutation_p.S196F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	196						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)				TGCACTTTCAGAGTTACTTTC	0.423000														57			11		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171355153	171355153	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:171355153G>A	uc002ufy.3	+	25	3209	c.3066G>A	c.(3064-3066)gaG>gaA	p.E1022E	MYO3B_uc002ufv.3_Silent_p.E1009E|MYO3B_uc010fqb.1_Silent_p.E1022E|MYO3B_uc002ufz.3_Silent_p.E1022E|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1022	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTAGCAAAGAGAGCTGTGTGG	0.383000														58			7		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7622070	7622070	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7622070C>T	uc010xjq.2	+	28	3567	c.3327C>T	c.(3325-3327)taC>taT	p.Y1109Y	PNPLA6_uc002mgq.2_Silent_p.Y1061Y|PNPLA6_uc010xjp.2_Silent_p.Y1034Y|PNPLA6_uc002mgr.2_Silent_p.Y1061Y|PNPLA6_uc002mgs.3_Silent_p.Y1099Y	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1100	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTGGCGGTACGTGCGCGCCA	0.667000														58			8		0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337290	6337290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:6337290C>T	uc003jdn.1	-	0	116	c.19G>A	c.(19-21)Gag>Aag	p.E7K						Homo sapiens FLJ33360 protein (FLJ33360), non-coding RNA.																		CGTCTTCTCTCAATGCAGGTG	0.517000														92			11		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272679	52272679	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52272679C>T	uc002pxr.3	+	1	813	c.768C>T	c.(766-768)ccC>ccT	p.P256P	FPR2_uc002pxs.4_Silent_p.P256P|FPR2_uc010epf.3_Silent_p.P256P|FPR2_uc021uyp.1_Silent_p.P256P	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	256					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P256S(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTTGGTTTCCCTTTCAACTGG	0.488000														37			7		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24809157	24809157	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:24809157G>A	uc001iru.4	+	10	2686	c.2283G>A	c.(2281-2283)gtG>gtA	p.V761V	KIAA1217_uc001irs.3_Silent_p.V681V|KIAA1217_uc001irt.4_Silent_p.V726V|KIAA1217_uc010qcy.2_Silent_p.V726V|KIAA1217_uc010qcz.2_Silent_p.V726V|KIAA1217_uc001irv.1_Silent_p.V576V|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.V444V|KIAA1217_uc001irz.3_Silent_p.V444V|KIAA1217_uc001irx.3_Silent_p.V444V|KIAA1217_uc001iry.3_Silent_p.V444V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	761					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGCGTCAAGTGGGAGAGGCTG	0.522000														103			18		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641171	29641171	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29641171G>A	uc011dlw.2	-	3	868	c.717C>T	c.(715-717)acC>acT	p.T239T		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	155					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CATCACAGTAGGTCTTGTCAC	0.572000														63			6		0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684936	80684936	+	Silent	SNP	C	T	T	rs148008327	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80684936C>T	uc002kfu.3	+	5	869	c.819C>T	c.(817-819)ttC>ttT	p.F273F	FN3KRP_uc010wvr.2_Silent_p.F223F	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA.	273							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCCCAGGATTCGAGAAGCGCC	0.512000														90			13		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147525724	147525724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:147525724C>T	uc003qlz.3	+	0	231	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LOC729178_uc003qlt.2_Non-coding_Transcript|LOC729178_uc003qlu.1_Non-coding_Transcript|STXBP5_uc010khz.2_Missense_Mutation_p.S19L|STXBP5_uc003qly.3_5'Flank	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	19					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGCTCGTCCTCGGCGTCGCAG	0.657000														20			4		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204073420	204073420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:204073420G>A	uc002uzt.3	+	50	7813	c.7480G>A	c.(7480-7482)Gag>Aag	p.E2494K	NBEAL1_uc021vvj.1_Missense_Mutation_p.E1128K|NBEAL1_uc002uzu.3_5'UTR	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2494							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACACACCAACGAGGTACTGAG	0.403000														426			61		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954639	38954639	+	Missense_Mutation	SNP	C	T	T	rs78572335	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38954639C>T	uc002hvh.1	-	2	604	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCTCATTTTCATACCTTGGG	0.463000														90			9		0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42293036	42293036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42293036G>A	uc010czs.3	-	4	756	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	UBTF_uc002igc.3_Missense_Mutation_p.P154S|UBTF_uc002igd.3_Missense_Mutation_p.P154S|UBTF_uc010czt.3_Missense_Mutation_p.P154S|UBTF_uc002ige.2_Missense_Mutation_p.P154S	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	154					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTTCTCCGGAAGCTCCTTG	0.562000														92			15		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113816807	113816807	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113816807G>C	uc001pok.3	+	8	1412	c.1274G>C	c.(1273-1275)gGg>gCg	p.G425A	HTR3B_uc001pol.3_Missense_Mutation_p.G414A	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	425					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTCATGCTGGGGATCTACACC	0.552000														54			4		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776282	94776282	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94776282C>T	uc001ycv.3	-	2	779	c.675G>A	c.(673-675)gaG>gaA	p.E225E	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	225					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCACAGTTGTCTCGTCCACAT	0.557000														38			5		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421019	11421019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11421019C>T	uc001qzs.3	-	2	202	c.164G>A	c.(163-165)gGa>gAa	p.G55E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	55	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.G55E(3)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCTGGAGGAGG	0.597000														170			11		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333681	9333681	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9333681G>A	uc001qvl.3	-	14	1766	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	PZP_uc009zgl.3_Silent_p.A448A	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						CTTGCAGGTGGGCATGTGAGG	0.547000														21			4		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628386	71628386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:71628386G>A	uc004agy.3	-	0	654	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	208	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GATGATCTCGGGGGCCAGGTA	0.627000														30			4		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165561600	165561600	+	Missense_Mutation	SNP	C	T	T	rs138185294		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:165561600C>T	uc002ucp.3	-	6	1234	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	COBLL1_uc002ucq.3_Missense_Mutation_p.G338R|COBLL1_uc010zcw.2_Missense_Mutation_p.G404R|COBLL1_uc010zcx.2_Missense_Mutation_p.G384R|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.G107R	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	376										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						CTCACTCTTCCTGCTTCACAG	0.443000														34			4		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102049786	102049786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102049786G>A	uc001kqx.1	-	13	2619	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S	PKD2L1_uc009xwm.1_Missense_Mutation_p.P699S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	746					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCTGGGGAGGGAGCCAGCCAC	0.557000														96			7		0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118424453	118424453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118424453G>A	uc001ehf.3	-	11	1593	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GDAP2_uc001ehg.3_Missense_Mutation_p.R432C	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	432	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ACCTTTGAACGAAATGTGGGA	0.328000														8			4		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636249	20636249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:20636249C>T	uc001mqd.3	+	5	1283	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	SLC6A5_uc009yic.3_Missense_Mutation_p.P102L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	337					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGTGACCATCCCAAAATACAG	0.413000														66			5		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2611206	2611206	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2611206C>T	uc003sml.1	+	3	361	c.177C>T	c.(175-177)tcC>tcT	p.S59S	IQCE_uc010ksm.1_Silent_p.S59S|IQCE_uc011jvy.1_Silent_p.S43S|IQCE_uc011jvz.1_5'UTR|IQCE_uc003smo.4_Silent_p.S59S|IQCE_uc003smk.4_Silent_p.S43S|IQCE_uc003smn.4_5'UTR	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	59										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCTGGAGGTCCCTCAGGACGG	0.597000														70			16		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362256	9362256	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9362256G>T	uc002mlb.1	+	0	537	c.537G>T	c.(535-537)ttG>ttT	p.L179F		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGCACAATTTGATTATGTTAC	0.438000														24			8		3.09899e-07	3.13784e-07	1	1	0
SYT11	23208	broad.mit.edu	37	1	155838372	155838372	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155838372G>A	uc001fmg.3	+	1	944	c.651G>A	c.(649-651)aaG>aaA	p.K217K	SYT11_uc010pgq.2_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	217	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGCTGCGGAAGACCCTGGACC	0.557000														53			4		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137780	31137780	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:31137780G>A	uc010qdz.2	-	6	1989	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	ZNF438_uc001ivn.3_Silent_p.F469F|ZNF438_uc010qdy.2_Silent_p.F508F|ZNF438_uc001ivo.4_Silent_p.F82F|ZNF438_uc009xlg.3_Silent_p.F518F|ZNF438_uc001ivp.4_Silent_p.F508F|ZNF438_uc010qea.2_Silent_p.F518F|ZNF438_uc010qeb.2_Silent_p.F518F|ZNF438_uc010qec.1_Silent_p.F82F	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTGCTGTTTGAACTGGAAGT	0.512000														171			14		0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50532358	50532358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50532358G>A	uc001rwd.4	-	4	552	c.535C>T	c.(535-537)Cca>Tca	p.P179S	CERS5_uc001rwc.3_Missense_Mutation_p.P98S|CERS5_uc001rwe.4_Missense_Mutation_p.P120S|CERS5_uc001rwf.4_Non-coding_Transcript|CERS5_uc010smq.1_Missense_Mutation_p.P35S	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	179	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACCTGAAATGGATAGTTATGC	0.483000														119			10		0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8399453	8399453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8399453C>T	uc010dwa.3	-	2	1324	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	KANK3_uc002mjp.1_5'Flank	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	420										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GAGGGCGCCTCTGCCGGGGAC	0.751000														16			6		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61929359	61929359	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61929359G>A	uc011aau.2	+	2	280	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	60	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGGTGCAGGTGAAGCCCATGG	0.667000														34			13		0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74426457	74426457	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74426457G>A	uc002axd.3	+	3	2131	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	ISLR2_uc002axe.3_Silent_p.A454A|ISLR2_uc010bjg.3_Silent_p.A454A|ISLR2_uc010bjf.3_Silent_p.A454A|ISLR2_uc021sqe.1_Silent_p.A454A	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	454					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGGACCCGGCGGAGGAGCAGC	0.657000														19			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107114168	107114168	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:107114168G>A	uc021ser.1	-	94		c.4158C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.468000														52			4		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19410591	19410591	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:19410591C>T	uc022btq.1	-	17	2195	c.2195_splice	c.e17-1	p.G732_splice	MAP3K15_uc004czj.2_Splice_Site_p.G167_splice|MAP3K15_uc004czk.2_Splice_Site_p.G207_splice	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	732	Protein kinase.						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)					AGAAAGGCTTCCTAGAGACAG	0.423000														33			9		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754880	6754880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6754880C>T	uc002mft.3	-	4	1137	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	SH2D3A_uc010xjg.2_Missense_Mutation_p.G193R	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	315					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCGGTGCTCCCAGGATGGTGC	0.647000														97			17		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111440430	111440430	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111440430G>A	uc001dzw.3	+	8	676	c.505_splice	c.e8-1	p.G169_splice	CD53_uc001dzx.3_Splice_Site_p.G169_splice|CD53_uc010owa.2_Splice_Site_p.G110_splice	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	169					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATGTCTTCTAGGGTTGCTATG	0.368000														42			7		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156679616	156679616	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156679616G>A	uc003lwo.1	+	17	1874	c.1792_splice	c.e17-1	p.R598_splice		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	598	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCTCTCCAGAGACCAGAAG	0.463000			T	SYK	peripheral T-cell lymphoma									155			20		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1565904	1565904	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1565904C>T	uc001agg.3	+	19	3252	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	MIB2_uc001agh.3_Silent_p.F1055F|MIB2_uc001agi.3_Silent_p.F1065F|MIB2_uc001agj.3_Silent_p.F853F|MIB2_uc001agk.3_Silent_p.F1004F|MIB2_uc001agm.3_3'UTR|MIB2_uc010nyq.2_Silent_p.F968F|MIB2_uc009vkh.3_Silent_p.F818F|MIB2_uc001agn.3_Silent_p.F644F|MIB2_uc001ago.3_Silent_p.F95F|MMP23B_uc001agp.3_5'Flank|MMP23B_uc001agq.3_5'Flank|MMP23B_uc001agr.3_5'Flank|MMP23B_uc009vki.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	1012					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCAGATCTTCGTGTGAGCCG	0.677000														18			5		0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222924	45222924	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45222924C>T	uc003tnb.3	+	2	421	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632000														146			42		0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221913020	221913020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:221913020G>A	uc001hmy.2	-	1	304	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	23					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CAAAGGTTGAGATCCTGAGGT	0.537000														109			17		0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466911	164466911	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:164466911G>A	uc002uck.1	-	2	1742	c.1431C>T	c.(1429-1431)atC>atT	p.I477I		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	477						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.I476S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTCCTTGGGTGATAATCTCAT	0.522000														35			6		0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332565	16332565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16332565G>A	uc001axn.3	+	1	302	c.234G>A	c.(232-234)atG>atA	p.M78I		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	78										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACCAATGAAGACCTACA	0.627000														109			30		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2722564	2722564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:2722564C>T	uc002klm.4	+	19	2695	c.2506C>T	c.(2506-2508)Cgt>Tgt	p.R836C	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Intron	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	836					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTTCCTTTTCGTGTTGGAGT	0.373000														46			4		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77893556	77893556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:77893556C>T	uc002lnw.3	+	3	715	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	87					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTGCTTACTTCATTCAAGAAT	0.378000														51			5		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955747	35955747	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35955747C>T	uc003jjv.2	-	6	1488	c.1295_splice	c.e6+1	p.R432_splice	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R432K|UGT3A1_uc011cor.2_Missense_Mutation_p.R398K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	432						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCACATACCTCTTGTCTTC	0.403000														48			6		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067449	3067449	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:3067449G>A	uc002klp.3	-	37	5203	c.4869C>T	c.(4867-4869)ttC>ttT	p.F1623F	MYOM1_uc002klq.3_Silent_p.F1527F	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1623	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			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						TCCCAGCCTCGAACTTGAGGT	0.582000														48			8		0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295200	295200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:295200G>A	uc004cpg.3	-	12	1894	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	PPP2R3B_uc004cpf.3_Missense_Mutation_p.P145S	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	544					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGGCCAGCGGGGAGCGCAGC	0.701000														30			5		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263163	55263163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55263163C>T	uc002qgx.3	+	5	815	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	KIR2DL1_uc010erw.1_Missense_Mutation_p.L260F|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	259					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		cttcatcctcctcctcttctt	0.502000														78			6		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6076747	6076747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6076747C>T	uc001qnn.1	-	46	8042	c.7792G>A	c.(7792-7794)Gat>Aat	p.D2598N	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2598	VWFC 3.				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)	GTGCACACATCGATCATCACA	0.622000														115			16		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22332203	22332203	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22332203G>A	uc001bfl.3	+	3	295	c.276G>A	c.(274-276)gtG>gtA	p.V92V	CELA3B_uc009vqf.3_Silent_p.V91V	NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	92	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACCTTGCTGTGAAGGAGGGCC	0.597000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			6		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130788433	130788433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:130788433C>T	uc003ysr.3	-	2	1201	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	107						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAGGCCTCCCCTGACACACTC	0.478000														70			4		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37002149	37002149	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:37002149C>T	uc002rpl.3	+	8	1043	c.741C>T	c.(739-741)atC>atT	p.I247I	VIT_uc002rpm.3_Silent_p.I247I|VIT_uc010ezv.3_Intron|VIT_uc010ezw.3_Silent_p.I247I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	247						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTCAGGTATCCAAAGGCAAG	0.507000														62			15		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39033710	39033710	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39033710C>T	uc002rrf.3	-	21	3906	c.3807G>A	c.(3805-3807)gtG>gtA	p.V1269V	DHX57_uc002rrd.4_Intron|DHX57_uc002rre.3_Silent_p.V702V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1269							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGATAGTTCACTGATGAAG	0.423000														78			35		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56330154	56330154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56330154C>T	uc021wzo.1	-	1	1107	c.967G>A	c.(967-969)Gag>Aag	p.E323K	ERC2_uc003dhr.1_Missense_Mutation_p.E323K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	323						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)		TTGTCATCCTCCAGGCTTTTG	0.448000														160			13		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21262025	21262025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21262025G>A	uc010bwp.1	+	1	1181	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	380	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGCTCTGATGAGGACCTTCA	0.512000														57			9		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10778311	10778311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:10778311C>T	uc001mja.3	+	4	667	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	173					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTTGCATTTCCTTCAACAAG	0.318000														67			9		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44144700	44144700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44144700G>A	uc003owt.1	+	10	1240	c.1202G>A	c.(1201-1203)aGa>aAa	p.R401K	CAPN11_uc011dvn.2_Missense_Mutation_p.R55K	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	401	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCTGGCGCAGAGGCAGCTCC	0.632000														182			32		0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131857693	131857693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:131857693G>A	uc004bxh.3	-	13	2146	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S	CRAT_uc004bxk.4_Missense_Mutation_p.P601S	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	622					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGGCCCGGGGGTGGCTCTGC	0.682000														50			4		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948005	133948005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133948005G>A	uc003ytw.3	+	24	4978	c.4937G>A	c.(4936-4938)cGa>cAa	p.R1646Q	TG_uc010mdw.3_Missense_Mutation_p.R405Q|TG_uc011ljb.2_Missense_Mutation_p.R79Q	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1646					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCAGAAACGAGATGCACTG	0.458000														45			4		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667118	157667118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157667118C>T	uc001fqz.4	-	5	948	c.656G>A	c.(655-657)aGg>aAg	p.R219K	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Splice_Site|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.R219K|FCRL3_uc001frc.1_Missense_Mutation_p.R219K	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	219	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GACATCTGGCCTCTGTGGAGA	0.577000														42			5		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849869	156849869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156849869G>A	uc001fqh.1	+	15	2181	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	NTRK1_uc001fqf.1_Missense_Mutation_p.D673N|NTRK1_uc009wsi.1_Missense_Mutation_p.D408N|NTRK1_uc001fqi.1_Missense_Mutation_p.D703N|NTRK1_uc009wsk.1_Missense_Mutation_p.D706N	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	709	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CACCGAGAGCGACGTGTGGAG	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				75			7		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356210	40356210	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:40356210G>A	uc003gva.1	+	4	1129	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	371					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			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)	ACCACCTCACGAAAGTTTATA	0.493000														69			7		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	477505	477505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:477505C>T	uc003jbe.2	-	10	1814	c.1702G>A	c.(1702-1704)Gtc>Atc	p.V568I	SLC9A3_uc011clx.1_Missense_Mutation_p.V559I|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	568						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCACGTTGACCACGTTGTCG	0.652000														37			4		0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44104183	44104183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:44104183C>T	uc010qfc.2	+	2	340	c.146C>T	c.(145-147)tCt>tTt	p.S49F	ZNF485_uc010qfd.2_Intron	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AATCTGGTGTCTGTGGGTGAG	0.507000														50			4		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186113349	186113349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186113349G>A	uc001grq.1	+	89	14198	c.13969G>A	c.(13969-13971)Gaa>Aaa	p.E4657K	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.E226K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4657	TSP type-1 3.				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						AACATGCAGCGAAAGTTGTGG	0.488000														45			5		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071212	2071213	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2071212_2071213GG>AA	uc003wpx.4	+	28	3679_3680	c.3541_3542GG>AA	c.(3541-3543)gga>AAa	p.G1181K	MYOM2_uc011kwi.2_Missense_Mutation_p.G606K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1181	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle	p.G1181V(2)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAGAGGGGAATCTGTGAG	0.421000														42			5		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266094	100266094	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100266094G>A	uc021xqi.1	-	4		c.577C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCAGGGGCGAGGCTGCATCAA	0.517000														46			5		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119911852	119911852	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119911852G>A	uc011bjf.2	-	3	788	c.408C>T	c.(406-408)ggC>ggT	p.G136G	GPR156_uc011bjg.2_Silent_p.G136G	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	136						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGAATGGGGCCAAACACAA	0.512000														28			5		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74474338	74474338	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74474338G>A	uc002sko.1	-	13	1886	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.I628I|SLC4A5_uc010ffc.1_Silent_p.I628I|SLC4A5_uc002skp.1_Silent_p.I564I|SLC4A5_uc002sks.1_Silent_p.I628I	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	628						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						TATATTTGATGATAAAGCTGG	0.512000														126			16		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356660	42356660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:42356660C>T	uc001wvm.3	+	2	2030	c.832C>T	c.(832-834)Cct>Tct	p.P278S	LRFN5_uc010ana.3_Missense_Mutation_p.P278S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	278	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGTCAATTCCTGAAGAAGA	0.473000										HNSCC(30;0.082)				79			10		0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55243226	55243226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:55243226C>T	uc001xbb.3	+	9	2317	c.2009C>T	c.(2008-2010)tCc>tTc	p.S670F	SAMD4A_uc001xbc.3_Missense_Mutation_p.S583F|SAMD4A_uc001xbg.2_Missense_Mutation_p.S262F	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	671					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.S670S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GTGCACACTTCCCCACAGAAC	0.612000														145			27		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190129896	190129896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:190129896C>T	uc001gse.1	-	6	1318	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	FAM5C_uc010pot.1_Missense_Mutation_p.M260I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	362						extracellular region		p.S361N(1)|p.S361R(1)		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)					AAAGTTGTTTCATGCTGTTCT	0.403000														15			6		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50558962	50558962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50558962C>T	uc003bjj.3	+	9	1569	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	MOV10L1_uc003bjk.4_Missense_Mutation_p.P496S|MOV10L1_uc011arp.2_Missense_Mutation_p.P476S|MOV10L1_uc011arq.1_Missense_Mutation_p.P257S|MOV10L1_uc010hao.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	496					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)		AAGTTTTCTTCCCCAATATCC	0.363000														70			11		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731909	73731909	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73731909C>T	uc003uam.3	+	1	360	c.33C>T	c.(31-33)ggC>ggT	p.G11G	CLIP2_uc003uan.3_Silent_p.G11G	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	11						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCCCCCCGGCCGTGGGGGGA	0.662000														92			17		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81944272	81944272	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81944272C>T	uc002fgt.3	+	17	2059	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	PLCG2_uc010chg.1_Silent_p.F627F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	627	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCCGAGTTCGAGCTGCGGC	0.632000														131			20		0	0	1	0	0
FUZ	80199	broad.mit.edu	37	19	50311713	50311713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50311713G>A	uc002ppq.2	-	9	1195	c.991C>T	c.(991-993)Cga>Tga	p.R331*	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Nonsense_Mutation_p.R295*	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	331	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TAGAAGTTTCGGAGGAGGCGC	0.672000														17			7		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123310	151123310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:151123310C>T	uc004ffi.3	-	8	1438	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	462					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCACAATCGGGGACCATG	0.567000														18			9		0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223339386	223339386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:223339386C>T	uc010zlo.2	+	1	319	c.319C>T	c.(319-321)Cca>Tca	p.P107S	SGPP2_uc010zlp.2_5'UTR	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	107					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CACGTTTCTTCCATTCACTCA	0.353000														54			5		0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851070	44851070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:44851070C>T	uc002ikv.2	-	1	405	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	96					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCAGGCTGTCATCTATGGTG	0.662000														62			13		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039388	248039388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248039388G>A	uc001ido.3	+	5	1106	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	353	B30.2/SPRY.					intracellular	zinc ion binding	p.G353E(2)|p.G353R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTCTGGTGGGAGAAGGAGCA	0.572000														41			5		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582578	120582578	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120582578G>A	uc001txo.3	-	40	5230	c.5217C>T	c.(5215-5217)atC>atT	p.I1739I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1739					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)					CTGTAGCCACGATTTCTGGCA	0.507000														167			15		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462972	26462973	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:26462972_26462973GG>AA	uc001isn.2	+	29	4139_4140	c.3779_3780GG>AA	c.(3778-3780)agg>aAA	p.R1260K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1260					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						TATCTAGAAAGGAAGGCCATAT	0.421000														32			5		0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	665975	665975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:665975G>A	uc003wph.3	-	1	120	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	19										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GGAACAGGAGGAAAAAGTCTC	0.458000														82			9		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702970	27702970	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27702970C>T	uc001itu.2	-	0	328	c.210G>A	c.(208-210)gaG>gaA	p.E70E		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	70					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGTCCCCCTCTGGCAGGG	0.711000														62			15		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83781746	83781746	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83781746G>A	uc010vns.2	+	11	1977	c.1713G>A	c.(1711-1713)ctG>ctA	p.L571L	CDH13_uc002fgx.3_Silent_p.L524L|CDH13_uc010vnt.2_Silent_p.L270L|CDH13_uc010vnu.2_Silent_p.L485L	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	524	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CAGGTTGGCTGAATATTAACC	0.463000														101			13		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039405	184039405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:184039405C>T	uc003fnp.3	+	9	1304	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F	EIF4G1_uc003fno.2_Missense_Mutation_p.L286F|EIF4G1_uc010hxw.2_Missense_Mutation_p.L181F|EIF4G1_uc010hxx.3_Missense_Mutation_p.L352F|EIF4G1_uc003fnt.3_Missense_Mutation_p.L56F|EIF4G1_uc010hxy.3_Missense_Mutation_p.L352F|EIF4G1_uc003fnq.3_Missense_Mutation_p.L258F|EIF4G1_uc003fnr.3_Missense_Mutation_p.L181F|EIF4G1_uc003fns.3_Missense_Mutation_p.L305F|EIF4G1_uc003fnv.4_Missense_Mutation_p.L345F|EIF4G1_uc003fnw.3_Missense_Mutation_p.L352F|EIF4G1_uc003fnx.3_Missense_Mutation_p.L149F	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	345					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCAGTCCTCTCCAGGCTCC	0.527000														79			7		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475646	52475646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52475646C>T	uc003dea.1	-	5	611	c.611G>A	c.(610-612)cGa>cAa	p.R204Q		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	204	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACCTCCACTTCGGAAGATCAT	0.637000														49			5		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26505314	26505314	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:26505314G>C	uc003nif.4	+	2	646	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	197	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCTGATGAAGAAGGTTTGTT	0.498000														60			7		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570420	55570420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:55570420C>T	uc021pqw.1	-	34	4803	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	PCDH15_uc010qhq.2_Missense_Mutation_p.E1463K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1458K|PCDH15_uc021pqv.1_Missense_Mutation_p.M1483I|PCDH15_uc010qht.2_Missense_Mutation_p.E1465K|PCDH15_uc021pqx.1_Missense_Mutation_p.M1481I	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				TGAGGCATTTCATACCTGTAA	0.418000										HNSCC(58;0.16)				70			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432234	152432234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152432234C>T	uc021vrb.1	-	77	11914	c.11885G>A	c.(11884-11886)aGa>aAa	p.R3962K	NEB_uc002txr.3_Missense_Mutation_p.R428K|NEB_uc002txu.3_Missense_Mutation_p.R5663K|NEB_uc021vrc.1_Missense_Mutation_p.R5663K|NEB_uc010fnx.3_Missense_Mutation_p.R3950K|NEB_uc021vrd.1_Missense_Mutation_p.R3962K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3962					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCATTTGCTCTAGCGAGATT	0.388000														92			6		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615806	140615806	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140615806C>T	uc003ljc.1	+	0	1869	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACTCGCCCTTCGTGCTGTACC	0.716000														49			5		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212288919	212288919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:212288919G>A	uc002veg.1	-	22	2925	c.2827C>T	c.(2827-2829)Ccc>Tcc	p.P943S	ERBB4_uc002veh.1_Missense_Mutation_p.P943S|ERBB4_uc010zji.1_Missense_Mutation_p.P933S|ERBB4_uc010zjj.1_Missense_Mutation_p.P933S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	943	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTGCAGATGGGAGGCTGAGGC	0.388000										TSP Lung(8;0.080)				28			7		0	0	1	0	0
PDPK1	5170	broad.mit.edu	37	16	2636724	2636724	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2636724C>T	uc002cqs.3	+	10	1317	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	PDPK1_uc002cqt.3_Silent_p.S264S|PDPK1_uc010bsn.3_Silent_p.S391S|PDPK1_uc002cqu.3_Silent_p.S364S	NM_002613	NP_002604	O15530	PDPK1_HUMAN	Homo sapiens 3-phosphoinositide dependent protein kinase-1 (PDPK1), transcript variant 1, mRNA.	391	Poly-Ser.				T cell costimulation|T cell receptor signaling pathway|actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGTCTTCGTCCTCCTCCTCAC	0.552000														91			7		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620647	137620647	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:137620647C>T	uc004cfe.3	+	5	1300	c.918C>T	c.(916-918)gtC>gtT	p.V306V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	306	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCACAGAGGTCCCCGAGGTCT	0.632000														85			20		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086274	100086274	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100086274G>A	uc003uvd.1	+	3	1089	c.930G>A	c.(928-930)cgG>cgA	p.R310R	NYAP1_uc003uve.1_Silent_p.R92R	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	310	Pro-rich.																TCCCGAGCCGGAGGGACGGGA	0.682000														80			6		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616062	25616062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25616062G>A	uc001zaq.3	-	6	2028	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.P400L|UBE3A_uc001zas.3_Missense_Mutation_p.P420L|UBE3A_uc001zat.3_Missense_Mutation_p.P400L	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	423	Interaction with HCV core protein.			P -> L (in Ref. 7; AAA35542).	brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTCCACTCGAGGACCTTTCTT	0.433000														14			3		0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91098435	91098435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:91098435C>T	uc001kgf.3	+	1	252	c.23C>T	c.(22-24)tCc>tTc	p.S8F	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Missense_Mutation_p.S8F	NM_001549	NP_001540	O14879	IFIT3_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA.	8					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ACCAAGAATTCCCTGGAGAAA	0.418000														26			6		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949699	56949699	+	Missense_Mutation	SNP	G	A	A	rs112411315		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56949699G>A	uc001njl.2	+	0	479	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	81						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ATGGACACCCGAAACCTCAGC	0.597000														30			5		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019025	123019025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123019025C>T	uc003egh.2	-	14	2842	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	ADCY5_uc021xdd.1_Missense_Mutation_p.E598K|ADCY5_uc003egg.2_Missense_Mutation_p.E581K|ADCY5_uc003egi.1_Missense_Mutation_p.E507K	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	948					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTGGCACCTCCACGATGAGC	0.627000														50			4		0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4863178	4863178	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4863178G>A	uc002gae.3	-	5	484	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	SPAG7_uc002gaf.3_Nonsense_Mutation_p.Q151*	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	151						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGCCCCTGCTGGGCTGCCTCC	0.652000														50			9		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84108247	84108247	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84108247G>A	uc002fhi.3	-	11	2050	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V	MBTPS1_uc002fhh.3_Silent_p.V20V	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	516					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						TGAGGATGGTGACATTAACAA	0.493000														36			7		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55333131	55333131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55333131C>T	uc002qhl.4	+	4	830	c.767C>T	c.(766-768)tCc>tTc	p.S256F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.S256F|KIR3DL2_uc010esf.3_Missense_Mutation_p.S161F|KIR3DL2_uc021vbo.1_Missense_Mutation_p.S256F|KIR3DL2_uc002qhk.4_Missense_Mutation_p.S256F			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	256	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TACCATCTATCCAGGGAGGGG	0.607000														36			9		0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527037	3527037	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3527037C>T	uc010dtk.2	+	4	481	c.447C>T	c.(445-447)tcC>tcT	p.S149S	FZR1_uc002lxt.2_Silent_p.S149S|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	149					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTACTCCCTGTCTCCCG	0.642000														59			19		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4780485	4780485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4780485C>T	uc003snc.1	+	1	587	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	FOXK1_uc003sna.1_Missense_Mutation_p.P30S|FOXK1_uc003snb.1_Missense_Mutation_p.P193S	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	193					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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	p.P193P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTTCCGGTTTCCCAGCACGGC	0.602000														324			37		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026032	16026032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:16026032C>T	uc010lsu.3	-	3	683	c.619G>A	c.(619-621)Gat>Aat	p.D207N	MSR1_uc003wwz.3_Missense_Mutation_p.D189N|MSR1_uc003wxa.3_Missense_Mutation_p.D189N|MSR1_uc003wxb.3_Missense_Mutation_p.D189N|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	189					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGCTGCAAATCAAGCAATGTG	0.403000														39			5		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117924	58117924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58117924C>T	uc002qpk.2	+	2	1251	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACAGGAGTGCCCACACTAGC	0.463000														67			5		0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86559760	86559760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:86559760G>A	uc004anb.3	-	2	990	c.742C>T	c.(742-744)Cat>Tat	p.H248Y	C9orf64_uc004anc.3_Missense_Mutation_p.H107Y	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	248										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCTCCAAGATGAGCAAGAACC	0.403000														48			5		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33614355	33614355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33614355C>T	uc021vft.1	+	31	4839	c.4816C>T	c.(4816-4818)Ccc>Tcc	p.P1606S	LTBP1_uc002rou.3_Missense_Mutation_p.P1280S|LTBP1_uc002rov.3_Missense_Mutation_p.P1227S|LTBP1_uc010ymz.2_Missense_Mutation_p.P1238S|LTBP1_uc010yna.2_Missense_Mutation_p.P1185S|LTBP1_uc010ynb.2_Missense_Mutation_p.P504S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1606					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGAAGCCGATCCCTACTTCAT	0.473000														41			16		0	0	1	0	0
TMEM217	221468	broad.mit.edu	37	6	37186564	37186564	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37186564G>A	uc003onl.3	-	1	324	c.243C>T	c.(241-243)ttC>ttT	p.F81F	TMEM217_uc010jwr.3_Silent_p.F81F|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Silent_p.F81F	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	81						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						AGTACAGGAGGAAGCAGCTGA	0.423000														77			6		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101777698	101777698	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:101777698G>A	uc004azb.1	+	10	1560	c.1354_splice	c.e10-1	p.G452_splice		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	452	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCATTTCAGGGTCCAAGCA	0.547000														43			7		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557706	52557706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52557706G>A	uc003dej.3	+	65	7403	c.7329G>A	c.(7327-7329)tgG>tgA	p.W2443*	STAB1_uc003del.3_Nonsense_Mutation_p.W355*	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2443	FAS1 7.				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)		TCATTGTGTGGGACATCATGG	0.632000														45			5		0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116649654	116649654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:116649654G>A	uc001ppp.3	-	13	1400	c.1367C>T	c.(1366-1368)gCt>gTt	p.A456V		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	456					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCGTTGCGGAGCCAGGCCTGC	0.537000														207			24		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057439	53057439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53057439G>A	uc010epq.1	+	4	1447	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCATACTGGAGAGAAACCTTA	0.358000														25			4		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79581018	79581018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79581018G>A	uc001jzk.3	-	14	3294	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.S679F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1075					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTAGTAGCTGGAAGCAATGCG	0.652000														68			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181754461	181754461	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181754461C>T	uc009wxt.3	+	41	5781	c.5586C>T	c.(5584-5586)gaC>gaT	p.D1862D	CACNA1E_uc001gow.3_Silent_p.D1862D|CACNA1E_uc009wxs.3_Silent_p.D1843D	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1862					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						TAGCCTCTGACCTGACTGTGG	0.468000														14			4		0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002701	6002701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:6002701C>T	uc003mwu.3	-	1	736	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	29						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TCGCACTTGCCCGCTGCTCTC	0.647000														41			5		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232607	56232607	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56232607C>T	uc010wno.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCTTCTGTTCCTGTTAGTCT	0.458000														130			24		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908950	103908950	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:103908950C>T	uc001kum.3	+	12	4794	c.4755C>T	c.(4753-4755)ttC>ttT	p.F1585F	PPRC1_uc001kun.3_Silent_p.F1463F|PPRC1_uc010qqj.2_Silent_p.F1321F|PPRC1_uc009xxa.3_Non-coding_Transcript|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1585	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACTACGGCTTCGTCACTTATC	0.572000														84			6		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123302238	123302238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123302238G>A	uc003ieo.3	+	3	496	c.264G>A	c.(262-264)atG>atA	p.M88I	ADAD1_uc003iep.3_Missense_Mutation_p.M88I|ADAD1_uc003ieq.3_Missense_Mutation_p.M70I	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	88					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATTTATAATGAAATACAAAC	0.388000														59			14		0	0	1	0	0
AK094599	0	broad.mit.edu	37	2	133066857	133066857	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133066857C>T	uc002ttk.1	+	1		c.56C>T								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		TTCCAGAATCCTGCCCTTTCC	0.368000														77			4		0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88692472	88692472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:88692472C>T	uc004aol.3	-	2	370	c.164G>A	c.(163-165)aGg>aAg	p.R55K	GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.3_Missense_Mutation_p.R55K	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA.	55						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TGCAGCCGCCCTGCGGACCCT	0.607000														69			4		0	0	1	0	0
FAM100B	283991	broad.mit.edu	37	17	74266362	74266362	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74266362C>T	uc010wsy.1	+	2	572	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L		NM_182565	NP_872371	Q8IYN6	F100B_HUMAN	Homo sapiens family with sequence similarity 100, member B (FAM100B), mRNA.	91										central_nervous_system(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCGAGGGCCTGCAGAGCAG	0.682000														27			6		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182872245	182872245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182872245C>T	uc001gpu.3	-	8	1924	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	SHCBP1L_uc001gpv.3_Missense_Mutation_p.E428K|SHCBP1L_uc010pnz.2_Missense_Mutation_p.E405K|SHCBP1L_uc001gpw.3_Missense_Mutation_p.E267K	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	619										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGATGAATTTCATTTCTTTCC	0.333000														87			13		0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913023	29913023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29913023C>T	uc002dut.3	+	0	877	c.731C>T	c.(730-732)cCt>cTt	p.P244L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	244					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGGTCCCCACCTCTGGCCCCC	0.692000														42			10		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89391210	89391210	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89391210A>T	uc010upo.1	+	8	2047	c.1673A>T	c.(1672-1674)tAt>tTt	p.Y558F	ACAN_uc002bmx.3_Missense_Mutation_p.Y558F|ACAN_uc010upp.1_Missense_Mutation_p.Y558F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	558					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTCAGGACCTATGGCGTGCGC	0.567000														104			14		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157822	59157822	+	Silent	SNP	C	T	T	rs147796041	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59157822C>T	uc010dps.1	+	0	188	c.36C>T	c.(34-36)aaC>aaT	p.N12N	CDH20_uc002lif.2_Silent_p.N6N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	12					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)				ATGCAAAGAACTGGCTTGGAC	0.468000														72			6		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21985022	21985022	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:21985022T>C	uc003xas.3	-	2	1598	c.933A>G	c.(931-933)acA>acG	p.T311T	HR_uc003xat.3_Silent_p.T311T	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	311							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGCACCTTGGTGTTGCTGGTG	0.647000														28			3		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181764	128181764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128181764G>A	uc003ekk.1	-	2	1986	c.325C>T	c.(325-327)Cct>Tct	p.P109S	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.P109S	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	109					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		AAGGAGAAAGGGTCCAGGCCA	0.612000														40			4		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16977262	16977262	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16977262G>A	uc002ney.2	+	12	1820	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	SIN3B_uc002nez.2_Silent_p.A567A|SIN3B_uc010xpi.1_Silent_p.A157A	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	599					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATGAGAAGGCGTACCTCAAGT	0.592000														52			13		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70541910	70541910	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70541910G>A	uc003xyg.2	+	17	2841	c.2280G>A	c.(2278-2280)tgG>tgA	p.W760*	SULF1_uc010lza.1_Nonsense_Mutation_p.W760*|SULF1_uc003xyd.2_Nonsense_Mutation_p.W760*|SULF1_uc003xye.2_Nonsense_Mutation_p.W760*|SULF1_uc003xyf.2_Nonsense_Mutation_p.W760*|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	760					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCCCGTTCTGGAACCGTAAGT	0.517000														110			20		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72055996	72055996	+	Silent	SNP	G	A	A	rs143924269	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:72055996G>A	uc004ahh.2	-	10	2493	c.2217C>T	c.(2215-2217)atC>atT	p.I739I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	739	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GACATCTCACGATATTCAGCT	0.458000														59			10		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76496520	76496520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76496520G>A	uc010dhp.2	-	35	5632	c.5507C>T	c.(5506-5508)tCc>tTc	p.S1836F	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGATGGAGGGACTGGGTCAG	0.597000														12			7		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39090569	39090569	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39090569G>A	uc002oix.1	-	21	1773	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	MAP4K1_uc002oiy.1_Silent_p.L555L|MAP4K1_uc010xug.2_Intron	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	555	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.L555L(3)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGACCTGAGAGAGACATGA	0.562000														120			17		0	0	1	0	0
GUCA2B	2981	broad.mit.edu	37	1	42620505	42620505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42620505C>T	uc001chc.1	+	1	275	c.245C>T	c.(244-246)tCg>tTg	p.S82L		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	82					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity	p.A81T(1)		breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCTGCGCCTCGCAGGAGGCT	0.682000														56			4		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298625	75298625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:75298625G>A	uc001owu.3	-	3	1986	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	641	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGACCATGGGATCTTGATCC	0.512000														107			12		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104594763	104594763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:104594763C>T	uc001kwg.3	-	2	617	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	149					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)	GTACTGATTTCCTGACAAACT	0.517000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			7		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621048	135621048	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:135621048C>T	uc002ttz.3	+	4	400	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ACMSD_uc002tua.3_Silent_p.F53F	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	111					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCAGGAGGTTCGTGGGTCTGG	0.577000														68			5		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239169517	239169517	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239169517G>A	uc002vyc.3	-	12	1731	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	PER2_uc010znv.1_Silent_p.T498T	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	498					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGCTGGAGGAGGTCTGGCTCA	0.622000														210			32		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15355236	15355236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15355236G>A	uc002nar.3	-	12	2609	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	796					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGTGGGGGCGAGGACTTCAT	0.711000			T	C15orf55	lethal midline carcinoma of young people									27			11		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12819315	12819315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12819315G>A	uc001auh.3	+	2	514	c.298G>A	c.(298-300)Gac>Aac	p.D100N	C1orf158_uc010obe.1_Missense_Mutation_p.D100N	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	100										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTATGACGACCATTACAA	0.567000														121			22		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346604	72346604	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72346604C>T	uc002jkm.4	+	10	1416	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	KIF19_uc002jkj.2_Silent_p.L426L|KIF19_uc002jkk.2_Silent_p.L384L|KIF19_uc002jkl.2_Silent_p.L384L	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	426					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGAGCAGCTCGCCAGCGCCT	0.657000														21			5		0	0	1	0	0
FAM70A	55026	broad.mit.edu	37	X	119410842	119410842	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:119410842G>A	uc004eso.4	-	7	872	c.645C>T	c.(643-645)atC>atT	p.I215I	FAM70A_uc004esp.4_Silent_p.I191I|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	215						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						AGAGGTGGATGATATCTTGGC	0.557000														29			17		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754664	76754664	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:76754664G>A	uc002lmt.3	+	1	2673	c.2673G>A	c.(2671-2673)gcG>gcA	p.A891A	SALL3_uc010dra.3_Silent_p.A498A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCGCAGCGCGGGCAGCCCCG	0.726000														28			9		0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55034644	55034644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:55034644C>T	uc001xbb.3	+	0	315	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	SAMD4A_uc001xba.3_Missense_Mutation_p.R4C|SAMD4A_uc001xbc.3_Missense_Mutation_p.R4C	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	4					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CATGATGTTTCGCGACCAGGT	0.701000														64			5		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43903465	43903465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43903465C>T	uc001cjk.2	+	44	6313	c.3703C>T	c.(3703-3705)Cct>Tct	p.P1235S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2134						peroxisome		p.P1235S(3)		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						CCTGTAGGGTCCTCGTTCTCC	0.567000														138			15		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240855	149240855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:149240855C>T	uc002twm.4	+	9	3692	c.2695C>T	c.(2695-2697)Cat>Tat	p.H899Y	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	899						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCACGCACTTCATTTTCCATC	0.498000														49			6		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64547343	64547343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64547343C>T	uc001xgl.3	+	55	11563	c.11333C>T	c.(11332-11334)tCa>tTa	p.S3778L	SYNE2_uc001xgm.3_Missense_Mutation_p.S3778L|SYNE2_uc021ruh.1_Missense_Mutation_p.S3811L|SYNE2_uc010apy.3_Missense_Mutation_p.S140L|SYNE2_uc010apx.1_Missense_Mutation_p.S170L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3778					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.S3778A(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTAGAACCTCACAGTTGAAT	0.413000														41			6		0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413817	26413817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:26413817C>T	uc003nhv.3	+	9	1807	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Missense_Mutation_p.S428L	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	480	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGGATGGATCGCATATTCAT	0.483000														80			8		0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32984776	32984776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:32984776G>A	uc003zry.3	-	5	702	c.665C>T	c.(664-666)aCc>aTc	p.T222I	APTX_uc022bfi.1_Missense_Mutation_p.T208I|APTX_uc003zrm.3_Missense_Mutation_p.T208I|APTX_uc003zrj.3_Missense_Mutation_p.T120I|APTX_uc003zrl.3_Missense_Mutation_p.T29I|APTX_uc011lns.2_Missense_Mutation_p.T29I|APTX_uc003zrn.3_Missense_Mutation_p.T120I|APTX_uc003zro.3_Missense_Mutation_p.T208I|APTX_uc003zrp.3_Missense_Mutation_p.T120I|APTX_uc003zrr.3_Missense_Mutation_p.T154I|APTX_uc003zrq.3_Missense_Mutation_p.T120I|APTX_uc003zrs.3_Missense_Mutation_p.T208I|APTX_uc003zsb.2_Missense_Mutation_p.T29I|APTX_uc003zru.3_Missense_Mutation_p.T168I|APTX_uc022bfj.1_Missense_Mutation_p.T222I|APTX_uc003zrx.3_Missense_Mutation_p.T208I|APTX_uc003zrw.3_Missense_Mutation_p.T150I|APTX_uc003zrv.3_Missense_Mutation_p.T222I|APTX_uc003zrt.3_Missense_Mutation_p.T120I|APTX_uc003zsa.1_Missense_Mutation_p.T154I|APTX_uc003zsc.2_Non-coding_Transcript	NM_001195248	NP_001182177	Q7Z2E3	APTX_HUMAN	Homo sapiens aprataxin (APTX), transcript variant 6, mRNA.	222	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	DNA 5'-adenosine monophosphate hydrolase activity|chromatin binding|damaged DNA binding|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGAAATGGAGGTCCACGGTAA	0.488000								Editing and processing nucleases						39			10		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107433709	107433709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107433709C>T	uc004enw.4	-	19	1445	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	COL4A6_uc004env.4_Missense_Mutation_p.E447K|COL4A6_uc011msn.2_Missense_Mutation_p.E447K|COL4A6_uc010npk.3_Missense_Mutation_p.E447K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	448	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGTAGAGTTTCAGTCTCAAAT	0.433000									Alport syndrome with Diffuse Leiomyomatosis					9			4		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831239	58831239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:58831239C>T	uc001xdp.3	+	19	2686	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	ARID4A_uc001xdo.3_Missense_Mutation_p.S811L|ARID4A_uc001xdq.3_Missense_Mutation_p.S811L|ARID4A_uc010apg.1_Missense_Mutation_p.S489L	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	811					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGATTTCATCATTTGGCCAG	0.333000														21			5		0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66446943	66446943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66446943G>A	uc010dey.3	-	2	350	c.259C>T	c.(259-261)Cac>Tac	p.H87Y	WIPI1_uc010wqo.2_Missense_Mutation_p.H5Y	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	87					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTCTTGAAGTGATACACGTTC	0.507000														139			9		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116309	161116309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:161116309G>A	uc003lyu.2	+	4	834	c.496G>A	c.(496-498)Gat>Aat	p.D166N	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	166					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTCCTATGGATGGGCATGC	0.378000										TCGA Ovarian(5;0.080)				57			5		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118628633	118628633	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118628633C>T	uc001ehk.2	-	12	1742	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	558						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)		GAAGAAATTCCCACAGTGGCA	0.423000														31			8		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528648	9528648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9528648C>T	uc002qzh.2	+	21	2696	c.2356C>T	c.(2356-2358)Ccg>Tcg	p.P786S	ASAP2_uc002qzi.2_Missense_Mutation_p.P786S	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	786	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CAGCGCCCCCCCGCTTCCTCC	0.577000														36			7		0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130219603	130219603	+	Silent	SNP	C	T	T	rs113869335		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130219603C>T	uc004brb.2	+	5	555	c.183C>T	c.(181-183)atC>atT	p.I61I	LRSAM1_uc010mxk.2_Silent_p.I61I|LRSAM1_uc004brc.2_Silent_p.I61I|LRSAM1_uc004brd.2_Silent_p.I61I	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	61					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGTGCTGATCGTCCACACGA	0.642000														34			5		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35061005	35061005	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35061005C>T	uc002xff.3	+	2	1320	c.885C>T	c.(883-885)tcC>tcT	p.S295S	DLGAP4_uc010zvp.2_Silent_p.S295S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	295					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTCCTGGTCCACTCTGACCC	0.647000														24			4		0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385350	50385350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50385350C>T	uc002pqo.3	+	5	879	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.L161F|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	194						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCTCTGCTCTCTCCAACTC	0.647000														248			37		0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17716310	17716310	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:17716310G>A	uc010zrs.1	+	3	162	c.148_splice	c.e3-1	p.A50_splice	BANF2_uc002wqa.2_Splice_Site_p.A43_splice|BANF2_uc002wpz.2_Splice_Site_p.A43_splice	NM_001159495	NP_848572	Q9H503	BAFL_HUMAN	Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA.	43						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CCCTCCCCAGGCCTACATCCT	0.537000														64			18		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281415	152281415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152281415C>T	uc001ezu.1	-	2	5983	c.5947G>A	c.(5947-5949)Gag>Aag	p.E1983K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1983	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.T1982K(1)		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)			GAGGAAGACTCTGTGTGACGA	0.572000									Ichthyosis					488			26		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62376927	62376927	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62376927G>A	uc010rly.1	-	5	965	c.657C>T	c.(655-657)ttC>ttT	p.F219F	EML3_uc001ntr.1_Silent_p.F191F|EML3_uc001nts.1_Silent_p.F191F|EML3_uc001ntt.1_Silent_p.F103F|EML3_uc001ntu.1_Silent_p.F219F|EML3_uc009yny.1_Silent_p.F2F			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	219						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						GCCCTCGAAGGAACATCTTCA	0.582000														101			23		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61917660	61917660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:61917660G>A	uc001xfn.3	+	5	1108	c.803G>A	c.(802-804)gGa>gAa	p.G268E	PRKCH_uc010tsa.2_Missense_Mutation_p.G107E	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	268					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGCTCTGGGGAATAATGCGA	0.483000														40			6		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81536910	81536910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81536910C>T	uc001szl.1	+	4	896	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	ACSS3_uc001szm.1_Missense_Mutation_p.R268C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	269						mitochondrion	ATP binding|acetate-CoA ligase activity	p.G268D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTCCCGGTCGTGACCTTGA	0.408000														31			4		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38917673	38917673	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38917673G>A	uc003jln.2	+	9	1713	c.1311G>A	c.(1309-1311)tgG>tgA	p.W437*	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	437	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTGATGTCTGGAGAATTGTGA	0.403000														59			4		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327146	327146	+	Silent	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:327146A>T	uc002lok.1	-	4	489	c.480T>A	c.(478-480)ccT>ccA	p.P160P		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CACTCCGGTTAGGGAAGAGGT	0.597000														105			23		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11883832	11883832	+	Silent	SNP	C	T	T	rs147734059	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11883832C>T	uc001ate.4	+	6	635	c.522C>T	c.(520-522)atC>atT	p.I174I	CLCN6_uc009vnf.1_Silent_p.I174I|CLCN6_uc009vng.1_Silent_p.I174I|CLCN6_uc009vnh.1_Silent_p.I174I|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Silent_p.I152I	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	174					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGGAATCGTCCGTCTCC	0.552000														70			8		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2123808	2123808	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:2123808C>T	uc003zhc.3	+	26	3951	c.3852C>T	c.(3850-3852)atC>atT	p.I1284I	SMARCA2_uc003zhd.3_Silent_p.I1284I|SMARCA2_uc010mha.3_Silent_p.I1217I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1284					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding	p.D1284G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTCCTGGATCATTAAGGATG	0.567000														20			4		0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18079796	18079796	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:18079796C>T	uc010ltd.3	+	4	607	c.240C>T	c.(238-240)acC>acT	p.T80T	NAT1_uc003wyt.3_Silent_p.T142T|NAT1_uc003wyu.3_Silent_p.T80T|NAT1_uc003wyv.3_Silent_p.T80T|NAT1_uc010ltc.3_Silent_p.T80T|NAT1_uc003wys.3_Silent_p.T142T|NAT1_uc003wyr.3_Silent_p.T80T|NAT1_uc003wyq.3_Silent_p.T80T|NAT1_uc011kyl.2_Silent_p.T80T	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 9, mRNA.	80					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGGCTCTGACCACTATTGGTT	0.478000														57			4		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33458688	33458688	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33458688C>T	uc003jhy.3	+	9	1297	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	TARS_uc010iup.1_Silent_p.F275F|TARS_uc011coc.2_Silent_p.F355F|TARS_uc003jhz.3_Silent_p.F230F|TARS_uc011cod.2_Silent_p.F213F	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	334					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AACTATATTTCTTTCATGAAC	0.338000														29			7		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38353980	38353980	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38353980G>A	uc001ccf.1	-	3	379	c.342C>T	c.(340-342)tcC>tcT	p.S114S	INPP5B_uc009vvk.1_Silent_p.S219S|INPP5B_uc001ccg.1_Silent_p.S278S|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	358					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.S113L(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTTTGGGGGACTGCCCAT	0.468000														62			9		0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3722937	3722937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3722937G>A	uc002wjd.3	+	3	290	c.148G>A	c.(148-150)Gag>Aag	p.E50K	HSPA12B_uc010zqj.2_Intron|HSPA12B_uc010zqi.2_Missense_Mutation_p.E50K|HSPA12B_uc002wje.3_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	50							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCAGAAACCCGAGGTCCGAGC	0.587000														49			5		0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51952473	51952473	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:51952473G>A	uc001vfk.3	-	11	2118	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*	INTS6_uc001vfi.3_Nonsense_Mutation_p.Q186*|INTS6_uc001vfj.3_Nonsense_Mutation_p.Q489*|INTS6_uc001vfl.3_Nonsense_Mutation_p.Q324*	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	502					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGGAGTTGTTGAAAATCTTTC	0.423000														42			7		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21030819	21030819	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21030819T>C	uc010sil.2	+	7	1149	c.1084T>C	c.(1084-1086)Tat>Cat	p.Y362H	SLCO1B3_uc001rek.3_Missense_Mutation_p.Y362H|SLCO1B3_uc001rel.3_Missense_Mutation_p.Y362H|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	362					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CGTCTTTAAATATATGGAGCA	0.348000														16			6		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493436	20493436	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:20493436C>T	uc003gpr.1	+	8	1032	c.828C>T	c.(826-828)gcC>gcT	p.A276A	SLIT2_uc003gps.1_Silent_p.A276A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	276	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.A276T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCCCTGCCGCCTGTACCTGTA	0.418000														42			7		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605530	48605530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48605530C>T	uc003ctz.2	-	104	7869	c.7868G>A	c.(7867-7869)gGc>gAc	p.G2623D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2623	Triple-helical region.		G -> C (in PR-DEB; dominant).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2622L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGAGGCCCCGGGGACC	0.537000														56			15		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210314	100210314	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:100210314G>A	uc002taf.3	-	13	2028	c.1884C>T	c.(1882-1884)caC>caT	p.H628H	AFF3_uc002tag.3_Silent_p.H603H|AFF3_uc010fiq.1_Silent_p.H603H|AFF3_uc010yvr.1_Silent_p.H756H|AFF3_uc002tah.1_Silent_p.H628H	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	603					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCTCGGGCCGGTGGCAGTTGG	0.761000														13			7		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3396452	3396453	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3396452_3396453GG>CA	uc001akg.4	+	13	2213_2214	c.1965_1966GG>CA	c.(1963-1968)gtggtc>gtCAtc	p.V656I	ARHGEF16_uc001aki.3_Missense_Mutation_p.V368I|ARHGEF16_uc001akj.3_Missense_Mutation_p.V368I|ARHGEF16_uc010nzh.2_Missense_Mutation_p.V360I	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	656	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCGGACGTGGTCCTGGTTCT	0.639000														67			6		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74351735	74351735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:74351735G>A	uc003hhb.3	+	3	458	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	143	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTACCCTGGATCCCGAAGA	0.383000														20			6		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269367	43269367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43269367C>T	uc021yzt.1	+	6	1097	c.998C>T	c.(997-999)tCa>tTa	p.S333L	SLC22A7_uc010jyl.1_Missense_Mutation_p.S334L|SLC22A7_uc003ous.3_Missense_Mutation_p.S331L|SLC22A7_uc003out.3_Missense_Mutation_p.S331L	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	333						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CGAAGACCTTCATACCTAGAC	0.582000														33			5		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97770803	97770803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97770803C>T	uc003upd.2	+	2	619	c.326C>T	c.(325-327)tCa>tTa	p.S109L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	109					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCACACTTTCAGTACCAAAT	0.428000														89			9		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898910	36898910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36898910C>T	uc003cgj.3	-	11	2419	c.2171G>A	c.(2170-2172)gGa>gAa	p.G724E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	724					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCTTTCTTTCCTTCTTTGCC	0.562000														30			4		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241724	3241724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3241724C>T	uc004crg.4	-	4	2159	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	668	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCTTGGTCACTGTGATTCCC	0.522000														29			6		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027702	37027702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:37027702C>T	uc004ddl.2	+	0	1271	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	407										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCGGAGCCTCCCAAGACTCG	0.607000														26			9		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187442854	187442854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:187442854G>A	uc003frp.3	-	8	2309	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R562C|BCL6_uc010hza.2_Missense_Mutation_p.R516C|BCL6_uc003frq.2_Missense_Mutation_p.R618C	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	618					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			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)		ACATGGGCACGGAGGTGGGCC	0.587000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									59			12		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528027	61528027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61528027G>A	uc002ydr.2	-	6	2222	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	DIDO1_uc002yds.2_Missense_Mutation_p.A637V|DIDO1_uc002ydt.2_Missense_Mutation_p.A637V|DIDO1_uc002ydu.2_Missense_Mutation_p.A637V	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	637					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)					CTTCCTTACGGCTCCCACCAA	0.617000														81			14		0	0	1	0	0
SURF2	6835	broad.mit.edu	37	9	136227982	136227982	+	Silent	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136227982C>A	uc004cdi.2	+	5	786	c.738C>A	c.(736-738)ccC>ccA	p.P246P		NM_017503	NP_059973	Q15527	SURF2_HUMAN	Homo sapiens surfeit 2 (SURF2), mRNA.	246							protein binding	p.P246P(2)		breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		ACCGCAAACCCAAGAGCTTCA	0.458000														153			5		1	1	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38352428	38352428	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38352428C>T	uc003jlc.2	+	4	886	c.540C>T	c.(538-540)ttC>ttT	p.F180F	EGFLAM_uc003jlb.2_Silent_p.F180F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	180	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)					CTGTGGAATTCATCAGGTAAG	0.522000														89			6		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079892	44079892	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44079892C>T	uc002rtq.3	+	5	939	c.849C>T	c.(847-849)gtC>gtT	p.V283V	ABCG8_uc010yoa.2_Silent_p.V283V	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	283	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGATCTGGTCCTCCTGATGA	0.587000														471			33		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955324	116955324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:116955324C>T	uc003viz.3	-	2	689	c.389G>A	c.(388-390)gGa>gAa	p.G130E	WNT2_uc003vja.3_Missense_Mutation_p.G34E	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	130					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTTTACTTCTCCTTGGCTACA	0.453000														27			4		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664007	169664007	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169664007C>T	uc011bpp.2	-	1		c.3796G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CAGGGCTCATCCTAGTAAGTG	0.502000														47			5		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103006655	103006655	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103006655G>A	uc002tbw.4	+	8	1239	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	IL18R1_uc010ywd.2_Silent_p.T207T|IL18R1_uc010fiy.3_Silent_p.T363T|IL18R1_uc010ywc.2_Silent_p.T362T	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	363					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GACATTTAACGAGAAGAGATG	0.333000														45			9		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864335	26864335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26864335G>A	uc010crm.3	+	8	2026	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	FOXN1_uc002hbj.3_Missense_Mutation_p.D610N	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	610					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCACTGGGTGACCTGCACCT	0.677000														34			7		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35509089	35509089	+	Missense_Mutation	SNP	G	A	A	rs143460335		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35509089G>A	uc002xgg.1	+	3	382	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	C20orf118_uc021wcz.1_Missense_Mutation_p.R125Q	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	125	TLD.									kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				TCGGCTATCCGACTCAGCAAA	0.547000														110			11		0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995187	32995187	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32995187C>T	uc003cfg.1	+	1	441	c.273C>T	c.(271-273)tcC>tcT	p.S91S	CCR4_uc021wuw.1_Silent_p.S91S	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	91					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.S91F(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCGTGTTTTCCCTCCCTTTTT	0.507000														97			7		0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673174	1673174	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1673174C>G	uc002ftl.3	+	2	270	c.113C>G	c.(112-114)gCg>gGg	p.A38G		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	38					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGCACAGGGGCGCTGGTGGAG	0.607000														93			9		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108107858	108107858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:108107858C>T	uc003dxa.1	-	38	5611	c.5554G>A	c.(5554-5556)Gcc>Acc	p.A1852T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1852						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						AGTCTGCGGGCTCCCCTCTGG	0.552000														31			5		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026158	43026158	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43026158C>T	uc002otv.3	-	2	756	c.621G>A	c.(619-621)agG>agA	p.R207R	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Non-coding_Transcript|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Silent_p.R207R|CEACAM1_uc002otw.3_Silent_p.R207R|CEACAM1_uc002otx.3_Silent_p.R207R|CEACAM1_uc002oty.3_Silent_p.R207R|CEACAM1_uc002otz.3_Silent_p.R207R|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Silent_p.R207R|CEACAM1_uc002oub.3_Silent_p.R207R|CEACAM1_uc002ouc.3_Silent_p.R207R	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	207	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CTGTGTCATTCCTTGTGACAC	0.522000														159			26		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205901911	205901911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205901911G>A	uc001hdp.3	-	3	409	c.295C>T	c.(295-297)Cct>Tct	p.P99S	SLC26A9_uc001hdq.3_Missense_Mutation_p.P99S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	99						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TTGACTGCAGGAAGGTTGGCC	0.572000														39			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708294	13708294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13708294C>T	uc003jfd.2	-	75	13318	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K	DNAH5_uc003jfc.2_Missense_Mutation_p.E594K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4426					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)					CGCAGATTTTCGCTCATGATG	0.463000									Kartagener syndrome					75			6		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244925	41244925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41244925G>A	uc002icq.3	-	9	2855	c.2623C>T	c.(2623-2625)Cca>Tca	p.P875S	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P804S|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P828S|BRCA1_uc002ict.3_Missense_Mutation_p.P875S|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P875S|BRCA1_uc002ide.1_Missense_Mutation_p.P706S|BRCA1_uc010cyy.1_Missense_Mutation_p.P875S|BRCA1_uc010whs.1_Missense_Mutation_p.P875S|BRCA1_uc010cyz.2_Missense_Mutation_p.P828S|BRCA1_uc010cza.2_Missense_Mutation_p.P849S|BRCA1_uc010wht.1_Missense_Mutation_p.P579S	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	875					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCATTTCCTGGATTTGAAAAC	0.398000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				46			5		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178692	62178692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62178692G>A	uc002yfi.1	-	0	166	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	42							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGGAGCGTGGGCACTGGGTC	0.697000														8			3		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125621201	125621201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125621201G>A	uc010mwc.1	-	11	2271	c.2030C>T	c.(2029-2031)cCg>cTg	p.P677L	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P677L|RC3H2_uc004bne.4_Missense_Mutation_p.P677L	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	677	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATACGGCTGCGGAGGAGGAGG	0.537000														96			10		0	0	1	0	0
CRB3	92359	broad.mit.edu	37	19	6465617	6465617	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6465617C>T	uc002mez.3	+	2	340	c.144C>T	c.(142-144)tcC>tcT	p.S48S	CRB3_uc002mey.3_Silent_p.S48S|CRB3_uc002mfa.3_Silent_p.S48S	NM_174881	NP_777377	Q9BUF7	CRUM3_HUMAN	Homo sapiens crumbs homolog 3 (Drosophila) (CRB3), transcript variant 3, mRNA.	48					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						GCTCCAGCTCCGATGGCAACC	0.498000														215			43		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608299	84608299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:84608299G>A	uc004amn.3	+	3	2961	c.2914G>A	c.(2914-2916)Gaa>Aaa	p.E972K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	972						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						TTTTCAAGGAGAAAAGTTGGG	0.517000														72			17		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109826556	109826556	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109826556C>T	uc010sxn.1	+	0	33	c.33C>T	c.(31-33)gtC>gtT	p.V11V		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						GGGACAAGGTCGGGGTTCAGG	0.522000														132			17		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46792579	46792579	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46792579G>T	uc003bhw.1	-	12	5766	c.5766C>A	c.(5764-5766)tgC>tgA	p.C1922*	CELSR1_uc011arc.1_Nonsense_Mutation_p.C243*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1922	EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGAGCGCACGCAGGCCCCCA	0.617000														16			6		0.00307968	0.00310426	1	1	0
PTK2B	2185	broad.mit.edu	37	8	27300482	27300482	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27300482C>T	uc003xfn.2	+	26	2938	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	PTK2B_uc022ate.1_Silent_p.F710F|PTK2B_uc003xfp.2_Silent_p.F710F|PTK2B_uc003xfq.2_Silent_p.F710F|PTK2B_uc003xfr.1_Silent_p.F456F	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	710	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCACAGCCTTCCAGGAACCCC	0.547000														52			4		0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74435816	74435816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74435816C>T	uc002skk.3	+	3	609	c.530C>T	c.(529-531)cCa>cTa	p.P177L	MTHFD2_uc002skj.3_Missense_Mutation_p.P75L|MTHFD2_uc010yro.2_Missense_Mutation_p.P75L|MTHFD2_uc010yrp.2_Missense_Mutation_p.P13L	NM_006636	NP_006627	P13995	MTDC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase (MTHFD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	177					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	p.R176T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCGGCTACTCCATGGGGTGTG	0.393000														91			42		0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43662001	43662001	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43662001G>A	uc001zrk.1	-	0	258	c.111C>T	c.(109-111)agC>agT	p.S37S	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_Silent_p.S36S|ZSCAN29_uc010bdf.1_Silent_p.S36S|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Silent_p.S36S|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	37	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;8.97e-07)		CCCAGAGTTGGCTGAAAGCCT	0.547000														65			6		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113014	145113014	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145113014G>A	uc003zar.3	-	7	1069	c.987C>T	c.(985-987)ttC>ttT	p.F329F	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Silent_p.F107F	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	329							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGACGTGCTCGAATTCCCCAG	0.667000														108			9		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167793932	167793932	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167793932G>A	uc001ger.3	-	26	4210	c.3912C>T	c.(3910-3912)ttC>ttT	p.F1304F	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.F1151F|ADCY10_uc009wvk.3_Silent_p.F1212F	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1304					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAGCTTGTTGAAGACCAGTG	0.498000														201			15		0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190151	38190151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38190151G>A	uc002ohc.2	-	4	1477	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ZNF607_uc002ohb.2_Missense_Mutation_p.S293F	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CACAAGGTGGGAAAACTGACG	0.423000														50			8		0	0	1	0	0
GBX1	2636	broad.mit.edu	37	7	150846137	150846137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150846137C>T	uc011kvg.2	-	1	863	c.631G>A	c.(631-633)Ggt>Agt	p.G211S		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	211						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCTGTCACCGCCTGAGCCC	0.612000														330			19		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219887962	219887962	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219887962G>A	uc002vjl.1	-	15	2871	c.2787C>T	c.(2785-2787)ccC>ccT	p.P929P		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	929	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCCTGGAGGGCTGGACAG	0.602000														43			10		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65268514	65268514	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65268514C>T	uc001xht.3	-	4	656	c.605G>A	c.(604-606)tGg>tAg	p.W202*	SPTB_uc001xhr.3_Nonsense_Mutation_p.W202*|SPTB_uc001xhs.3_Nonsense_Mutation_p.W202*|SPTB_uc001xhu.3_Nonsense_Mutation_p.W202*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	202	Actin-binding.|CH 2.		W -> R (in HS; Kissimmee).		actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCATCCTTCCAGCTGGAGGT	0.478000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		125			17		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4154994	4154994	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4154994G>A	uc002lzl.3	+	1	242	c.126G>A	c.(124-126)ctG>ctA	p.L42L	CREB3L3_uc002lzm.3_Silent_p.L33L|CREB3L3_uc010xib.2_Silent_p.L33L|CREB3L3_uc010xic.2_Silent_p.L33L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	42					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGGAGCTGGGCGAGGGCT	0.637000														124			8		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917640	97917640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:97917640C>T	uc001klp.3	+	5	2418	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.L521F|ZNF518A_uc001klr.3_Missense_Mutation_p.L521F	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	521					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)		ATCTTCTATACTTTCAGGGAA	0.323000														61			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082904	9082904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9082904C>T	uc002mkp.3	-	0	9115	c.8911G>A	c.(8911-8913)Gca>Aca	p.A2971T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2972	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A2971E(1)|p.M2970N(1)		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						TCATGCCCTGCCATAGAAGGG	0.502000														34			5		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417787	40417787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40417787G>A	uc003ayk.1	+	3	1367	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	425										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AAACGGCATGGGAGAAGCGGC	0.672000														31			7		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794549	15794549	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15794549C>T	uc002nbl.3	+	6	1013	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTTGGATTTCATTGATGTGC	0.438000														151			9		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14562679	14562679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14562679C>T	uc002myp.3	+	6	1177	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PKN1_uc002myq.3_Missense_Mutation_p.P343S	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	337	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGAGACCTCCCAGAGACCAT	0.692000														26			6		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17714998	17714998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17714998G>A	uc001bak.1	+	6	802	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	260					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCATCTGCCGAATTCTCAGG	0.557000														23			5		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861663	67861663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67861663G>A	uc010vka.2	+	15	1982	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	TSNAXIP1_uc002euf.4_3'UTR|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.E567K|TSNAXIP1_uc002eug.4_Missense_Mutation_p.E290K|TSNAXIP1_uc002euh.4_Missense_Mutation_p.E290K|TSNAXIP1_uc002eui.4_Missense_Mutation_p.E290K|TSNAXIP1_uc002euj.3_Missense_Mutation_p.E582K|TSNAXIP1_uc002euk.3_Missense_Mutation_p.E315K	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	582					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CAGCCATGAGGAAGTGACTCT	0.637000														31			4		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934472	30934472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:30934472G>A	uc002nsu.1	+	1	141	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF536_uc010edd.1_Missense_Mutation_p.M1I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1					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)					TTTCAGGGATGGAAGAAGCGA	0.587000														90			18		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056797	64056797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64056797C>T	uc010rni.2	+	8	1416	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P405L|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	405						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGGCCGGCTCCTTGCTGCTCC	0.667000														135			32		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511066	76511066	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76511066C>T	uc010dhp.2	-	25	4028	c.3903G>A	c.(3901-3903)tgG>tgA	p.W1301*		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGATATCTTTCCACTTGGTGG	0.453000														76			5		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975655	94975655	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:94975655C>T	uc001tdj.2	-	1	856	c.738G>A	c.(736-738)gtG>gtA	p.V246V	TMCC3_uc001tdi.2_Silent_p.V215V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	246						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGGGTTTGTTCACGATGGTAG	0.557000														54			7		0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52883818	52883818	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52883818G>A	uc003dgc.4	-	3	548	c.417C>T	c.(415-417)ttC>ttT	p.F139F	TMEM110-MUSTN1_uc003dgd.3_Silent_p.F139F	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		CATATTCGCCGAAGCGCAGGG	0.627000														49			5		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68154022	68154022	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68154022C>T	uc001ont.3	+	5	1329	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	418	Beta-propeller 2.				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						TCAACGACCCCGATGGCATCG	0.657000														73			10		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493581	102493581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102493581C>T	uc001yks.2	+	44	9006	c.8842C>T	c.(8842-8844)Cgt>Tgt	p.R2948C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2948	AAA 4 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.R2948H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACCCTGTCTCGTTTCGTCGC	0.478000														174			43		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3469395	3469395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:3469395C>T	uc002qxm.1	+	8	1911	c.1705C>T	c.(1705-1707)Cat>Tat	p.H569Y	TRAPPC12_uc002qxn.1_Missense_Mutation_p.H569Y|TRAPPC12_uc010ewm.1_Missense_Mutation_p.H575Y	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	569							binding										GGAGGCGTATCATTCGGTTAT	0.537000														127			14		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125441590	125441590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125441590G>A	uc001ugy.3	-	16	2348	c.2249C>T	c.(2248-2250)cCc>cTc	p.P750L		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	750							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)		TGCTTTCTGGGGCGGTTGCAG	0.632000														74			4		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265018	39265018	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39265018C>T	uc001uwv.3	+	0	3846	c.3537C>T	c.(3535-3537)ttC>ttT	p.F1179F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1179					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.F1178L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACAGTTCTTCCCCATTGTAA	0.418000														80			18		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062053	216062053	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216062053G>A	uc001hku.1	-	40	8325	c.7938C>T	c.(7936-7938)ccC>ccT	p.P2646P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2646	Fibronectin type-III 13.				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)		GGTGGGTAGGGGGTTGCCAAG	0.502000										HNSCC(13;0.011)				43			5		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44280756	44280756	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44280756C>T	uc002oxl.3	-	1	588	c.192G>A	c.(190-192)acG>acA	p.T64T		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	64					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	AAATGCTGATCGTGCATTTAA	0.597000														53			5		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799669	5799669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5799669G>A	uc010qzn.2	-	0	229	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAATACATCGGATGATGTAAG	0.453000														2			3		0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691628	31691628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31691628C>T	uc011doc.2	+	1	314	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Missense_Mutation_p.R92W|C6orf25_uc003nwk.3_Missense_Mutation_p.R92W|C6orf25_uc011dod.2_Missense_Mutation_p.R92W|C6orf25_uc003nwn.3_Missense_Mutation_p.R92W|C6orf25_uc011doe.2_Missense_Mutation_p.R92W|C6orf25_uc003nwo.3_Missense_Mutation_p.R92W	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	92						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CTCTGGTATCCGGCGGCTGGA	0.677000														318			55		0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62190767	62190767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62190767G>A	uc001czz.1	-	0	329	c.26C>T	c.(25-27)cCg>cTg	p.P9L		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.	9					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CGGAGCAGACGGACCAGACGG	0.687000														90			5		0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976151	7976151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7976151C>T	uc002mit.3	+	7	937	c.872C>T	c.(871-873)cCc>cTc	p.P291L	MAP2K7_uc002miv.2_Missense_Mutation_p.P291L|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.P166L|MAP2K7_uc010xkb.2_Missense_Mutation_p.P291L	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	291	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CGCATTGACCCCCCAGACCCC	0.706000														73			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140790093	140790093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140790093C>T	uc003lkj.2	+	0	2324	c.2324C>T	c.(2323-2325)tCc>tTc	p.S775F	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_uc003lki.1_Missense_Mutation_p.S775F|PCDHGC5_uc011day.2_5'Flank|PCDHGC5_uc003lkl.2_5'Flank	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	795					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)			CCCCTACATTCCAATGAAGAC	0.438000														77			7		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685505	53685505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53685505C>T	uc001sck.2	+	25	5643	c.5552C>T	c.(5551-5553)cCt>cTt	p.P1851L	ESPL1_uc001scj.2_Missense_Mutation_p.P1526L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1851					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCCTCACCCCTCAGGACATT	0.587000														170			15		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145610271	145610271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:145610271C>T	uc003lnz.4	+	5	807	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RBM27_uc003lny.2_Missense_Mutation_p.S214F	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	214					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGAGTTCCTATGTGCCT	0.448000														50			6		0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274811	51274811	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51274811C>T	uc010ycf.2	+	0	954	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	318						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTACGTCTTCGTTGGCAGAG	0.542000														111			7		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527997	6527997	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6527997C>T	uc001iji.1	-	8	1083	c.999_splice	c.e8+1	p.Q333_splice	PRKCQ_uc001ijj.2_Splice_Site_p.Q300_splice|PRKCQ_uc009xim.2_Splice_Site_p.Q300_splice|PRKCQ_uc009xin.2_Splice_Site_p.Q264_splice|PRKCQ_uc010qax.2_Splice_Site_p.Q175_splice	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	300					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATGCTCCTACCTGTTGAGTGC	0.542000														37			6		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44039743	44039743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:44039743C>T	uc002ijr.4	+	1	362	c.40C>T	c.(40-42)Cac>Tac	p.H14Y	MAPT_uc010dau.3_Missense_Mutation_p.H14Y|MAPT_uc002ijs.4_Missense_Mutation_p.H14Y|MAPT_uc002ijx.4_Missense_Mutation_p.H14Y|MAPT_uc021tyv.1_Missense_Mutation_p.H14Y|MAPT_uc002ijt.4_Missense_Mutation_p.H14Y|MAPT_uc021tyw.1_Missense_Mutation_p.H14Y|MAPT_uc002iju.4_Missense_Mutation_p.H14Y	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	14					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GATGGAAGATCACGCTGGGAC	0.567000														18			7		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170059297	170059297	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:170059297A>C	uc003qwx.3	-	11	1724	c.1204T>G	c.(1204-1206)Tgc>Ggc	p.C402G	WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Missense_Mutation_p.C402G|WDR27_uc003qwy.3_Missense_Mutation_p.C275G|WDR27_uc003qwz.1_Missense_Mutation_p.C135G	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	372										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCCAGCAAGCACAGCACCTGC	0.587000														122			7		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124005659	124005660	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124005659_124005660CC>TT	uc001pzu.3	+	11	1486_1487	c.1277_1278CC>TT	c.(1276-1278)tcc>tTT	p.S426F	VWA5A_uc001pzt.3_Missense_Mutation_p.S426F	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	426	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GAAGGCACCTCCACCAGCCTAA	0.441000														25			7		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111155025	111155025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:111155025G>A	uc001plc.3	+	2	379	c.232G>A	c.(232-234)Ggc>Agc	p.G78S		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	78										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GCCCAACGCGGGCTCTCTGTT	0.667000														29			5		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540947	40540947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40540947G>A	uc002omu.3	-	4	1884	c.1819C>T	c.(1819-1821)Cat>Tat	p.H607Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H459Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAAATTTCTGA	0.423000														46			5		0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49202121	49202121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:49202121G>A	uc001crx.4	-	4	942	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Missense_Mutation_p.H131Y	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	300										large_intestine(5)|lung(2)|skin(1)	8						CTTCCCAGATGGACCTGAGAG	0.478000														37			5		0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541984	44541984	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44541984G>A	uc011azx.2	-	3	446	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Silent_p.F61F			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	95					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CTAACTCTTTGAAGGTATCTT	0.398000														22			4		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496295	110496295	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:110496295G>A	uc004epc.2	-	3	638	c.447C>T	c.(445-447)ttC>ttT	p.F149F	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	149	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGGAGAAAGAGAAGACCAGAT	0.428000														12			9		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683344	218683344	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218683344G>A	uc002vgt.2	-	23	3797	c.3399C>T	c.(3397-3399)agC>agT	p.S1133S	TNS1_uc002vgr.2_Silent_p.S1120S|TNS1_uc002vgs.2_Silent_p.S1112S|TNS1_uc010zjv.1_Silent_p.S1112S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1133	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GAGGAGAAGAGCTCTGGTAGT	0.622000														57			4		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104099	168104099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168104099C>T	uc002udx.3	+	8	6286	c.6197C>T	c.(6196-6198)aCt>aTt	p.T2066I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T1891I|XIRP2_uc010fpq.3_Missense_Mutation_p.T1844I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1891					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						GGTGTCTGGACTGATACTACA	0.358000														10			4		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141643749	141643749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141643749C>T	uc003vwv.1	-	3	352	c.155G>A	c.(154-156)gGg>gAg	p.G52E	CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Missense_Mutation_p.G52E|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	52					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	p.G52W(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGAACTGCTCCCAAAAATCTG	0.433000														15			5		0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320141	247320141	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247320141G>A	uc001ick.3	-	3	922	c.783C>T	c.(781-783)ccC>ccT	p.P261P	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Silent_p.P199P	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TACATGGATAGGGTTCTTCAC	0.428000														53			4		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36459083	36459083	+	Missense_Mutation	SNP	C	T	T	rs138337760	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36459083C>T	uc003tff.3	+	9	2068	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S	ANLN_uc011kaz.2_Missense_Mutation_p.P534S|ANLN_uc003tfg.3_Missense_Mutation_p.P585S|ANLN_uc010kxe.3_Missense_Mutation_p.P584S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	622	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGTGGTAAGTCCAGAGGTAAG	0.423000														8			5		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380328	147380328	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147380328C>T	uc021ovm.1	+	0	246	c.246C>T	c.(244-246)atC>atT	p.I82I	GJA8_uc001epu.2_Silent_p.I82I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	82					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCTGCAGATCATCTTCGTCT	0.627000														55			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106805208	106805208	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106805208C>T	uc021ser.1	-	583		c.16663G>A			abParts_uc001ysw.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTCATTGTGTCTCTCGCACAG	0.612000														251			18		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135866351	135866351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135866351C>T	uc004ccg.3	+	6	1262	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	GFI1B_uc010mzy.3_Missense_Mutation_p.P257S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	303	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AGGCTTCAAGCCCTTCAGCTG	0.632000														59			6		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517001	195517001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195517001C>T	uc021xjp.1	-	1	1606	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E366K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	489					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGTTGTTTCATGTAGAGTA	0.493000														102			15		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556420	29556420	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29556420G>A	uc003nmr.1	+	0	738	c.699G>A	c.(697-699)agG>agA	p.R233R	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	233					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGGGCGGAGGAAAGCTTTTG	0.527000														69			7		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37464711	37464711	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37464711C>T	uc003aqt.1	-	16	2186	c.2124G>A	c.(2122-2124)gcG>gcA	p.A708A	TMPRSS6_uc003aqs.1_Intron	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	714	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ccacagcatccgcccgtaggg	0.488000														47			8		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335465	20335465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20335465C>T	uc002dgv.3	-	2	291	c.208G>A	c.(208-210)Gat>Aat	p.D70N	GP2_uc002dgw.3_Missense_Mutation_p.D70N|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	70						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AAGGGTTCATCCAGGAGGGTG	0.557000														44			9		0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822521	45822521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45822521G>A	uc002ilv.1	+	5	1608	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	466					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGAGGGACGGGGACCAGAG	0.657000														28			5		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103355070	103355070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103355070C>T	uc001dum.3	-	58	4759	c.4441G>A	c.(4441-4443)Gaa>Aaa	p.E1481K	COL11A1_uc001duk.3_Missense_Mutation_p.E665K|COL11A1_uc001dul.3_Missense_Mutation_p.E1469K|COL11A1_uc001dun.3_Missense_Mutation_p.E1430K|COL11A1_uc009weh.3_Missense_Mutation_p.E1353K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1469	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			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)		TCACCTTTTTCCCCTTGTTCT	0.408000														12			12		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867768	29867768	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29867768G>A	uc002kxl.3	-	3	848	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FAM59A_uc002kxk.2_Silent_p.F264F	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	264	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CCTCACGGATGAAGTGGAGGT	0.537000														97			10		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169180	53169180	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53169180G>A	uc001sax.3	-	1	861	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	269	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTCTTTTTGAAGTCTTCCA	0.517000														94			9		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21789439	21789439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21789439G>A	uc001wag.3	+	11	1489	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E139K|RPGRIP1_uc001wai.3_Missense_Mutation_p.E139K|RPGRIP1_uc001waj.1_5'UTR|RPGRIP1_uc001wak.3_5'UTR|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank|RPGRIP1_uc001wam.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	497					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAAACCAAGAAGAAAAGAA	0.408000														20			3		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525746	76525746	+	Silent	SNP	G	A	A	rs883022		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76525746G>A	uc010dhp.2	-	21	3440	c.3315C>T	c.(3313-3315)gtC>gtT	p.V1105V		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCATTCTGGCGACTTTCATGA	0.597000														49			8		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159842769	159842769	+	Silent	SNP	G	A	A	rs144795673		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159842769G>A	uc001fui.3	-	10	1560	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.I429I|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	514						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGATCTCATCGATGCGCTCAC	0.572000														54			6		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57756673	57756673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57756673G>A	uc002emi.3	+	9	1417	c.1328G>A	c.(1327-1329)aGg>aAg	p.R443K	CCDC135_uc002emj.3_Missense_Mutation_p.R443K|CCDC135_uc002emk.3_Missense_Mutation_p.R378K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	443						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CAGTACAAGAGGGCAAAGCTG	0.557000														65			7		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37319298	37319298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37319298C>T	uc001caz.2	-	7	1265	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	GRIK3_uc001cba.1_Missense_Mutation_p.R377Q	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	377					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G376V(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAAAACAATTCGTCCAGTTAA	0.498000														44			17		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10428192	10428192	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10428192C>T	uc003bvt.3	-	6	1351	c.912G>A	c.(910-912)gtG>gtA	p.V304V	ATP2B2_uc003bvv.3_Intron|ATP2B2_uc003bvw.3_Intron|ATP2B2_uc010hdo.3_Intron	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	304					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCCTTCTTCACACCTGTGT	0.512000														52			9		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2538422	2538422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2538422C>T	uc001ajy.2	-	6	836	c.622G>A	c.(622-624)Gag>Aag	p.E208K	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	208					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTACGGTCTCGTTCCACCTG	0.642000														79			12		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903171	4903171	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4903171C>T	uc010qyp.2	+	0	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCAAACTTCCTCCTCACTG	0.413000														21			5		0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12784000	12784000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12784000C>T	uc011auv.1	-	4	523	c.356G>A	c.(355-357)gGg>gAg	p.G119E	TMEM40_uc003bxg.1_Missense_Mutation_p.G103E|TMEM40_uc003bxh.1_Missense_Mutation_p.G73E	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	103						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CTCCCCATGCCCAGGACCTGG	0.507000														79			7		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908248	158908248	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158908248G>A	uc001ftb.3	+	2	577	c.327G>A	c.(325-327)caG>caA	p.Q109Q	PYHIN1_uc001fta.4_Silent_p.Q109Q|PYHIN1_uc001ftc.3_Silent_p.Q100Q|PYHIN1_uc001ftd.3_Silent_p.Q109Q|PYHIN1_uc001fte.3_Silent_p.Q100Q	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	109					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGACGAAACAGAAAGAAGTGT	0.428000														53			9		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547857	35547857	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35547857C>T	uc003zww.3	+	1	1594	c.1339C>T	c.(1339-1341)Cta>Tta	p.L447L	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L447L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	447						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGTATTACCTATTCCAGAA	0.582000														199			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449875	17449875	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17449875G>A	uc001mnc.3	-	13	2127	c.2001C>T	c.(1999-2001)gtC>gtT	p.V667V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	667					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCACTGGGGACCAGGCTCT	0.662000														237			18		0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51585837	51585837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51585837G>A	uc021uyk.1	-	2	302	c.83C>T	c.(82-84)gCt>gTt	p.A28V	KLK14_uc002pvs.1_Missense_Mutation_p.A28V	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	28					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CTTACCTATAGCCAGGACTTG	0.532000														76			5		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4304796	4304796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4304796C>T	uc003smx.3	+	44	6561	c.6422C>T	c.(6421-6423)tCc>tTc	p.S2141F	SDK1_uc010kso.3_Missense_Mutation_p.S1397F|SDK1_uc003smy.3_Missense_Mutation_p.S628F|SDK1_uc003smz.3_Missense_Mutation_p.S201F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2141					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAAGCACTCCTTCGTGAAC	0.682000														21			5		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182913012	182913012	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:182913012C>T	uc003fli.1	-	25	3006	c.2916G>A	c.(2914-2916)acG>acA	p.T972T		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	972					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTACTCACCTCGTGCTCATTT	0.313000														55			13		0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52381754	52381754	+	Silent	SNP	G	A	A	rs61747861	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52381754G>A	uc010yde.2	-	4	466	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ZNF577_uc010ydd.1_Non-coding_Transcript|ZNF577_uc002pxx.4_Silent_p.F25F|ZNF577_uc002pxv.3_Silent_p.F18F|ZNF577_uc002pxw.3_Silent_p.F18F	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCACATCTTCGAATGACAATG	0.458000														30			4		0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517864	1517864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1517864C>T	uc002wfi.3	-	2	558	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	172						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CTGTTTCTCTCAGGCAGGGCC	0.602000														73			7		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563271	21563271	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:21563271G>A	uc009zzs.3	-	3	1013	c.648C>T	c.(646-648)ttC>ttT	p.F216F	LATS2_uc001unr.4_Silent_p.F216F	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	216					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F216F(3)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGACTCCGGGGAAAAGGTAGT	0.711000														20			7		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976717	106976717	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:106976717C>T	uc001kyi.1	+	18	2798	c.2571C>T	c.(2569-2571)atC>atT	p.I857I	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	857	PKD.					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)		GGACAAACATCCAGCTTGACT	0.517000														22			3		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208391132	208391132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:208391132G>A	uc001hgz.3	-	1	894	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	PLXNA2_uc001hha.4_Missense_Mutation_p.R100C	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	46	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCAGTCACGATTCTCAGAG	0.617000														98			13		0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738630	41738630	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41738630G>A	uc002idz.3	-	0	302	c.273C>T	c.(271-273)tcC>tcT	p.S91S	MEOX1_uc002iea.3_Silent_p.S91S|MEOX1_uc002ieb.3_5'UTR	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	91						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCCAGTTGGGGGACTGTGGGA	0.667000														94			18		0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	900523	900523	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:900523C>T	uc001aca.2	+	11	1988	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	KLHL17_uc001acc.2_Non-coding_Transcript|PLEKHN1_uc001acd.3_5'Flank|PLEKHN1_uc001acf.3_5'Flank|PLEKHN1_uc001ace.3_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	627	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCTCAATTTCCCGCCGCCAT	0.642000														49			5		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584396	1584396	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1584396G>A	uc022brv.1	-	0	1056	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.L352L	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	352						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCCTCTGGAGGCCGGGCC	0.711000			T	CRLF2	"""B-ALL, Downs associated ALL"""									139			8		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625895	29625895	+	Missense_Mutation	SNP	G	A	A	rs76435412	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:29625895G>A	uc010ztl.1	+	1	81	c.49G>A	c.(49-51)Gga>Aga	p.G17R	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATCTGGCTATGGAAAATATCT	0.343000														14			7		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680271	87680271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:87680271G>A	uc003ydx.3	-	4	667	c.619C>T	c.(619-621)Cca>Tca	p.P207S	CNGB3_uc010maj.3_Missense_Mutation_p.P69S	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	207					signal transduction|visual perception	integral to membrane	cGMP binding	p.P207Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGCTGTTTGGAAGTTTAATT	0.388000														65			5		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176438	104176438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:104176438G>A	uc001kvg.1	-	1	885	c.358C>T	c.(358-360)Cca>Tca	p.P120S	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.P120S|PSD_uc001kvi.1_Missense_Mutation_p.P120S|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	120	Pro-rich.				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)		AAGCCCCCTGGAGCAGGTAGC	0.652000														42			6		0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138024932	138024933	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138024932_138024933CC>TT	uc003esg.3	-	7	577_578	c.549_550GG>AA	c.(547-552)caggaa>caAAaa	p.E184K	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.E99K|NME9_uc003ese.1_Missense_Mutation_p.E123K	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	184	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AACCCAGCTTCCTGAATCTGTA	0.351000														193			9		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26898006	26898006	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26898006C>T	uc001bmr.1	+	17	1820	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	RPS6KA1_uc010ofe.1_Silent_p.L461L|RPS6KA1_uc010off.1_Silent_p.L537L|RPS6KA1_uc001bms.1_Silent_p.L562L|RPS6KA1_uc009vsl.1_Silent_p.L396L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	553	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)		TCCCGAGTGCCTGCGCATCTG	0.582000														42			5		0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29135775	29135775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:29135775G>A	uc003szv.3	-	3	466	c.347C>T	c.(346-348)tCc>tTc	p.S116F	CPVL_uc003szw.3_Missense_Mutation_p.S116F|CPVL_uc003szx.3_Missense_Mutation_p.S116F	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	116					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCCAAACATGGATGAACCTCC	0.463000														108			8		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70891683	70891683	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70891683G>A	uc002ezr.3	-	71	12368	c.12217C>T	c.(12217-12219)Ctg>Ttg	p.L4073L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4074										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)				CCTACCAGCAGGAAAGGGACT	0.478000														23			4		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6919729	6919729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6919729C>T	uc002mfw.3	+	12	1629	c.1591C>T	c.(1591-1593)Cca>Tca	p.P531S	EMR1_uc010dvc.3_Missense_Mutation_p.P531S|EMR1_uc010dvb.3_Missense_Mutation_p.P479S|EMR1_uc010xji.2_Missense_Mutation_p.P390S|EMR1_uc010xjj.2_Missense_Mutation_p.P354S	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	531	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCTCAGATCCAATCATCTA	0.483000														70			14		0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109678	228109678	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228109678G>A	uc001hri.2	-	3	727	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	213					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACTTGCAGGTGGTCTCCACCC	0.652000														50			6		0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161198820	161198820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161198820C>T	uc001fzd.3	+	9	1091	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	TOMM40L_uc010pkl.1_Missense_Mutation_p.L254F|TOMM40L_uc009wue.3_Missense_Mutation_p.L170F|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.L288F	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	288	Required for mitochondrial targeting (By similarity).				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCCTAGCCCTTGGAGCCTT	0.567000														100			17		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784261	9784261	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:9784261G>A	uc003gmb.4	+	0	1004	c.608G>A	c.(607-609)tGg>tAg	p.W203*		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	203					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGACGCCCTGGGAGGAGGAC	0.592000														73			5		0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102323171	102323171	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102323171C>T	uc001yko.3	+	1	383	c.243C>T	c.(241-243)acC>acT	p.T81T	PPP2R5C_uc010txr.2_Silent_p.T112T|PPP2R5C_uc001ykk.3_Silent_p.T136T|PPP2R5C_uc010txt.2_Silent_p.T71T|PPP2R5C_uc001ykn.3_Silent_p.T81T|PPP2R5C_uc001ykp.3_Silent_p.T81T|PPP2R5C_uc010txs.1_Silent_p.T71T	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	81					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATATATCACCCATAATCGGA	0.388000														61			4		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29797906	29797906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29797906G>A	uc002kxj.4	+	13	2116	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	690					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R690Q(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCTCAAATCGACCAAATTTG	0.383000														25			6		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329039	3329039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3329039G>A	uc001akf.3	+	8	2360	c.2278G>A	c.(2278-2280)Gac>Aac	p.D760N	PRDM16_uc001ake.3_Missense_Mutation_p.D760N|PRDM16_uc009vlh.3_Missense_Mutation_p.D461N|PRDM16_uc001akc.3_Missense_Mutation_p.D760N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	760	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)		GTCACCCCGGGACGCCCTCAA	0.647000			T	EVI1	"""MDS, AML"""									78			6		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47122386	47122386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:47122386C>T	uc002iom.3	+	11	1688	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	IGF2BP1_uc010dbj.3_Missense_Mutation_p.R313C	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	452	KH 3.|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	p.R452G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCCAAAGTTCGTATGGTTAT	0.468000														101			25		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93408148	93408148	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:93408148G>A	uc001ybg.3	-	10	1292	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.3_Silent_p.L216L|ITPK1_uc001ybh.3_Silent_p.L335L	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	335					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGCCTCAGCAGGGCCACGTCC	0.687000														22			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275785	152275785	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152275785C>T	uc001ezu.1	-	2	11613	c.11577G>A	c.(11575-11577)caG>caA	p.Q3859Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3859	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)			CACTGGATCCCTGGCGCCTGC	0.582000									Ichthyosis					141			25		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299475	47299475	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:47299475G>A	uc002iop.1	+	6	1323	c.825G>A	c.(823-825)ctG>ctA	p.L275L	ABI3_uc002ioq.1_Silent_p.L269L	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	275	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCTGCCACTGGACCTGCCTC	0.602000										HNSCC(55;0.14)				96			11		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568213	7568213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:7568213C>T	uc002cys.2	+	4	1080	c.92C>T	c.(91-93)gCt>gTt	p.A31V	RBFOX1_uc010buf.1_Missense_Mutation_p.A31V|RBFOX1_uc002cyr.1_Missense_Mutation_p.A31V|RBFOX1_uc002cyt.2_Missense_Mutation_p.A31V|RBFOX1_uc010uxz.1_Missense_Mutation_p.A74V|RBFOX1_uc010uya.1_Missense_Mutation_p.A67V|RBFOX1_uc002cyv.1_Missense_Mutation_p.A31V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A31V|RBFOX1_uc002cyw.2_Missense_Mutation_p.A51V|RBFOX1_uc002cyy.2_Missense_Mutation_p.A51V|RBFOX1_uc002cyx.2_Missense_Mutation_p.A51V|RBFOX1_uc010uyc.1_Missense_Mutation_p.A51V	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	31					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCCCAGTTTGCTCCCCCGCAG	0.592000														116			7		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155561811	155561811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155561811G>A	uc003qqb.3	+	17	4589	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	TIAM2_uc003qqe.3_Missense_Mutation_p.E1106K|TIAM2_uc010kjj.3_Missense_Mutation_p.E639K|TIAM2_uc003qqf.3_Missense_Mutation_p.E482K|TIAM2_uc011efl.1_Missense_Mutation_p.E442K|TIAM2_uc003qqg.3_Missense_Mutation_p.E418K|TIAM2_uc003qqh.3_Missense_Mutation_p.E31K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1106	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGTCATCCAGGAGCTTGTGGA	0.572000														60			6		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807326	133807326	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:133807326G>A	uc001qgx.4	-	4	855	c.624C>T	c.(622-624)tgC>tgT	p.C208C	IGSF9B_uc001qgy.1_Silent_p.C50C	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	208	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTACGCTCGGCAGGTGTAGG	0.617000														29			5		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310283	168310283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168310283C>T	uc010jjg.3	-	4	892	c.472G>A	c.(472-474)Gat>Aat	p.D158N	SLIT3_uc003mab.3_Missense_Mutation_p.D158N|SLIT3_uc010jji.2_Missense_Mutation_p.D158N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	158					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTCACATCGGTGATGCCG	0.507000														40			4		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101648144	101648144	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:101648144C>T	uc003yjr.3	-	2	388	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	79	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AATATTGTTCCAGTTGGTCCC	0.413000														29			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048589	9048589	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9048589C>T	uc002mkp.3	-	4	33246	c.33042G>A	c.(33040-33042)gaG>gaA	p.E11014E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11016	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						AAGGTGTGGTCTCTGGTTCAC	0.517000														36			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764666	82764666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:82764666G>A	uc003uhx.2	-	2	2489	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	PCLO_uc003uhv.2_Missense_Mutation_p.P734S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	680	Pro-rich.				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						TCTTTGGGAGGGGCTGGCTTG	0.527000														55			11		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100366352	100366352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100366352C>T	uc001dsi.1	+	25	3923	c.3523C>T	c.(3523-3525)Ctc>Ttc	p.L1175F	AGL_uc001dsj.1_Missense_Mutation_p.L1175F|AGL_uc001dsk.1_Missense_Mutation_p.L1175F|AGL_uc001dsl.1_Missense_Mutation_p.L1175F|AGL_uc001dsm.1_Missense_Mutation_p.L1159F|AGL_uc001dsn.1_Missense_Mutation_p.L1158F	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1175					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCTAGACATTCTCAAGTGCCC	0.403000														127			9		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40039454	40039454	+	Missense_Mutation	SNP	C	A	A	rs141297025	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40039454C>A	uc002hyg.3	-	19	2349	c.2186G>T	c.(2185-2187)cGg>cTg	p.R729L	ACLY_uc002hyh.3_Missense_Mutation_p.R719L|ACLY_uc002hyi.3_Missense_Mutation_p.R783L|ACLY_uc010wfx.2_Missense_Mutation_p.R773L|ACLY_uc010wfy.2_Missense_Mutation_p.R458L	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	729					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.C728Y(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTTGATGCCCCGGCAAATCTT	0.532000														75			4		1	1	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181727209	181727209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181727209G>A	uc009wxt.3	+	30	4651	c.4456G>A	c.(4456-4458)Gcc>Acc	p.A1486T	CACNA1E_uc001gow.3_Missense_Mutation_p.A1486T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A1467T|CACNA1E_uc001gox.1_Missense_Mutation_p.A712T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1486					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						CACCATTATGGCCATGATCGC	0.557000														29			9		0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196622	58196622	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58196622C>T	uc003djo.1	-	0	109	c.12G>A	c.(10-12)gaG>gaA	p.E4E	DNASE1L3_uc011bfd.1_Silent_p.E4E|DNASE1L3_uc003djp.1_Silent_p.E4E|DNASE1L3_uc003djq.1_Silent_p.E4E	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	4					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTGGGGCCAGCTCCCGTGACA	0.592000														25			7		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55340859	55340859	+	Silent	SNP	G	A	A	rs149135890		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55340859G>A	uc001cyc.1	-	3	648	c.519C>T	c.(517-519)atC>atT	p.I173I	DHCR24_uc010ooj.1_Silent_p.I35I|DHCR24_uc010ook.1_Silent_p.I132I	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	173	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						ATGATGACTCGATGCCTGTGC	0.587000														75			13		0	0	1	0	0
VTI1B	10490	broad.mit.edu	37	14	68120182	68120182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:68120182G>A	uc001xjt.3	-	4	970	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	VTI1B_uc010aqp.3_Missense_Mutation_p.R131W|VTI1B_uc001xju.3_Missense_Mutation_p.R151W	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1B (yeast) (VTI1B), mRNA.	192					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		AGAATCTTCCGACTTTTGCTC	0.328000														18			9		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56136651	56136651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56136651G>A	uc002xyn.4	+	1	347	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	62					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGATGGAGGAAGAGGGCAT	0.607000														98			15		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515325	26515325	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26515325C>T	uc001bln.4	+	19	1832	c.1774C>T	c.(1774-1776)Cta>Tta	p.L592L	CNKSR1_uc001blm.4_Silent_p.L585L|CNKSR1_uc009vsd.3_Silent_p.L327L|CNKSR1_uc009vse.3_Silent_p.L327L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	592					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTCCCTCCTAGGCCAGCC	0.642000														81			26		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219413	155219413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:155219413C>T	uc003inw.2	-	17	4688	c.4688G>A	c.(4687-4689)cGa>cAa	p.R1563Q		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1563	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTGGTGCTTCGTGAACCCTG	0.448000														21			6		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47589171	47589171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:47589171C>T	uc003gxk.1	+	21	4053	c.3889C>T	c.(3889-3891)Cca>Tca	p.P1297S	ATP10D_uc003gxl.1_Missense_Mutation_p.P545S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1297					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CATGCTGGATCCAGTATTCTA	0.398000														25			4		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277724	152277724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152277724G>A	uc001ezu.1	-	2	9674	c.9638C>T	c.(9637-9639)tCc>tTc	p.S3213F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3213	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)			GCTCACACTGGATCCCTGGCG	0.557000									Ichthyosis					135			14		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943605	9943605	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:9943605A>T	uc003gmc.3	-	5	807	c.746T>A	c.(745-747)cTt>cAt	p.L249H	SLC2A9_uc003gmd.3_Missense_Mutation_p.L220H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	249					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GAGAAAGGGAAGGCTCAGCAG	0.587000														54			5		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73717620	73717620	+	Silent	SNP	C	T	T	rs150041669		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73717620C>T	uc010ttx.2	+	5	634	c.471C>T	c.(469-471)gtC>gtT	p.V157V	PAPLN_uc001xnw.4_Silent_p.V157V|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.V157V	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	157						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CACAGGTTGTCGGCTGTGATC	0.657000														46			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744741	140744741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140744741C>T	uc003lju.2	+	0	844	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	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_uc011das.2_Missense_Mutation_p.R282C	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	282	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)			CTACTCTTTTCGCAATGAAGA	0.453000														43			4		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4834516	4834516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:4834516C>T	uc001alm.1	+	4	1574	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	AJAP1_uc001aln.3_Missense_Mutation_p.P398L	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	398	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATCTTATTCCTGTGGCCTTC	0.532000														99			13		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4952413	4952413	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4952413C>T	uc002cyd.1	-	3	522	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	144					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ATACCAGCTTCTCCTCCACCA	0.632000														72			7		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60987776	60987776	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60987776T>G	uc002ycw.2	-	12	1977	c.1780A>C	c.(1780-1782)Agc>Cgc	p.S594R		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	594										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			CCGGTCGTGCTCGTAGTGGCC	0.692000														86			4		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31752246	31752246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31752246G>A	uc003nxe.3	-	11	1924	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	501					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)	GGCACGGAGAGCAGGGTGCGA	0.597000														556			79		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3727484	3727484	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:3727484G>A	uc010ewt.3	+	4	359	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	85							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCCTCAGGCTGGGGATCCAAG	0.567000										HNSCC(21;0.051)				99			8		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37101641	37101641	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37101641C>T	uc002oek.3	+	3	342	c.229C>T	c.(229-231)Cta>Tta	p.L77L	ZNF382_uc010efa.3_Silent_p.L28L|ZNF382_uc010efb.3_Silent_p.L76L|ZNF382_uc002oel.3_Silent_p.L77L	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	77	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTACAGCTACCTAGGTGAGTC	0.373000														25			3		0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134392	71134392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:71134392C>T	uc001xmi.2	+	1	861	c.518C>T	c.(517-519)gCc>gTc	p.A173V		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	173							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCTGGTGTGGCCTTCTACCAC	0.473000														94			14		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680091	181680091	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181680091G>A	uc009wxt.3	+	8	1251	c.1056_splice	c.e8-1	p.G352_splice	CACNA1E_uc001gow.3_Splice_Site_p.G352_splice|CACNA1E_uc009wxs.3_Splice_Site_p.G352_splice	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	352					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						TGTCCACAGGGAATTTGCCAA	0.517000														26			9		0	0	1	0	0
GPSM3	63940	broad.mit.edu	37	6	32159677	32159677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32159677G>A	uc003oay.4	-	2	556	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Missense_Mutation_p.P52S	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	52					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						GCCGAGCGGGGTCCCAGGGCT	0.662000														174			20		0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	35284673	35284673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:35284673G>A	uc002ytl.3	-	2	209	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	DONSON_uc002ysn.1_5'UTR|DONSON_uc002ytm.1_Non-coding_Transcript	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	24					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GTGGCATAGCGACCTTCAATA	0.383000														58			4		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31573001	31573001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31573001G>A	uc002rnv.1	-	24	2799	c.2720C>T	c.(2719-2721)cCc>cTc	p.P907L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	907					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CGTGTTGGAGGGAAGGTTGGT	0.567000														105			35		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796883	210796883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:210796883C>T	uc010psr.2	+	9	1367	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	HHAT_uc009xcx.3_Missense_Mutation_p.S420F|HHAT_uc010psq.2_Missense_Mutation_p.S283F|HHAT_uc009xcy.3_Missense_Mutation_p.S355F|HHAT_uc010pss.2_Missense_Mutation_p.S375F|HHAT_uc010pst.2_Missense_Mutation_p.S357F|HHAT_uc001hhz.4_Missense_Mutation_p.S420F|HHAT_uc021pip.1_Missense_Mutation_p.S420F|HHAT_uc010psu.2_Missense_Mutation_p.S355F|HHAT_uc001hia.4_Missense_Mutation_p.S110F	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	420					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CGATACTTCTCCCCACAAGCT	0.527000														197			9		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82074833	82074833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:82074833C>T	uc003hmh.2	-	5	968	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.E319K	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	319					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTACTTCCTTCCTCGCCCTCT	0.343000														20			4		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39047471	39047471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39047471C>T	uc003ooj.4	+	10	1235	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	392					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCCTTCACCTCCTTCCAGGTG	0.552000														59			5		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769438	37769438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37769438G>A	uc003asq.4	-	2	2923	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	ELFN2_uc021wph.1_Missense_Mutation_p.P713S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	713						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TACAGGGCGGGAAAGCTGTGC	0.711000														12			3		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290769	57290769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:57290769C>T	uc002ixi.3	+	2	2627	c.2585C>T	c.(2584-2586)tCt>tTt	p.S862F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	862					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTCATGTGCTCTGGGCCTGAC	0.453000														118			18		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991351	112991351	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:112991351C>T	uc003dzx.3	+	6	1383	c.762C>T	c.(760-762)gcC>gcT	p.A254A	BOC_uc003dzy.3_Silent_p.A254A|BOC_uc003dzz.3_Silent_p.A254A|BOC_uc003eab.3_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	254	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGTGTGTGGCCAGTGGAATCC	0.612000														151			9		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25098952	25098952	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:25098952G>A	uc001mqs.3	+	11	1210	c.936_splice	c.e11+1	p.Q312_splice	LUZP2_uc009yif.3_Splice_Site_p.Q226_splice|LUZP2_uc009yig.3_Splice_Site_p.Q270_splice	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	312						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTATCCCACAGGTATGTGTTT	0.313000														81			5		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4905816	4905816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4905816C>T	uc002gan.2	+	6	844	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	163	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCCCAAGAGTCGGGGTTCTCT	0.537000														141			13		0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170591668	170591668	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170591668C>A	uc002ufh.2	+	3	519	c.144C>A	c.(142-144)ttC>ttA	p.F48L	KLHL23_uc002ufi.2_Missense_Mutation_p.F48L	NM_001199290	NP_001186219	Q8NBE8	KLH23_HUMAN	Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA.	48	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GCATAATTTTCCATTGTCACC	0.343000														90			11		5.50884e-06	5.57466e-06	1	1	0
MUC2	4583	broad.mit.edu	37	11	1097275	1097275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1097275G>A	uc001lsx.1	+	36	6706	c.6679G>A	c.(6679-6681)Gag>Aag	p.E2227K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4593						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACATCCCCGAGCTGGGTGT	0.607000														61			7		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72047482	72047482	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:72047482G>A	uc004ahh.2	-	11	2688	c.2412C>T	c.(2410-2412)atC>atT	p.I804I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	804	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.I804I(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAATGTGGACGATCTTCTCGT	0.622000														18			7		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616263	140616263	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140616263C>T	uc003ljc.1	+	0	2326	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGCGGTGCGGCTGTGCAGGAG	0.672000														156			8		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93773697	93773697	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:93773697T>A	uc001khr.3	+	31	4593	c.4495T>A	c.(4495-4497)Ttt>Att	p.F1499I		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1499					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTACTACCGTTTCTTTTGAG	0.348000														58			7		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149902314	149902314	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149902314G>A	uc001etl.4	-	14	1841	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.F458F|MTMR11_uc010pbm.1_3'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	530	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)			CAGGATTCTGGAATTGTAGTA	0.498000														128			22		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779424	159779424	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159779424G>A	uc001fud.4	+	4	879	c.837G>A	c.(835-837)gaG>gaA	p.E279E	FCRL6_uc001fuc.2_Silent_p.E286E|FCRL6_uc009wsz.1_Silent_p.E184E|FCRL6_uc009wta.3_Silent_p.E279E	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	279	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCGAGGCTGAGAACAGTGTCT	0.557000														45			5		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196076	131196076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131196076C>T	uc003vqw.4	-	1	475	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	PODXL_uc003vqx.4_Missense_Mutation_p.E73K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	73	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCCAAGATTTCGTTGGCCTTG	0.557000														78			6		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225378273	225378273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:225378273G>A	uc010fwy.1	-	4	693	c.640C>T	c.(640-642)Cct>Tct	p.P214S	CUL3_uc010zls.1_Missense_Mutation_p.P142S|CUL3_uc002vny.2_Missense_Mutation_p.P208S	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	208					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCAAAAAAGGAGCCTCAAAA	0.303000														28			10		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91773492	91773492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91773492C>T	uc010aty.3	-	17	3239	c.3085G>A	c.(3085-3087)Ggg>Agg	p.G1029R		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1029					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTGTCTTCCCCGCAGGGTGC	0.597000														43			6		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531700	92531700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92531700C>T	uc001pdj.4	+	8	5538	c.5521C>T	c.(5521-5523)Cat>Tat	p.H1841Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1841	Cadherin 16.				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)				CAACCTGGACCATGAAACCAT	0.468000										TCGA Ovarian(4;0.039)				101			5		0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817556	38817556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38817556G>A	uc002oic.3	+	1	753	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	KCNK6_uc002oid.3_Missense_Mutation_p.G82S	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	216						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GTCCACCATCGGCCTGGGCGA	0.627000														151			34		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063426	194063426	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194063426G>A	uc003fts.3	-	1	96	c.6C>T	c.(4-6)ctC>ctT	p.L2L	CPN2_uc021xix.1_Silent_p.L2L	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	2					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGGCTCCAGGGAGCATCTTCT	0.587000														47			6		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134227	27134227	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27134227G>A	uc003sye.3	-	1	934	c.840C>T	c.(838-840)cgC>cgT	p.R280R	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	280						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTCATTCGGCGGTTCTGGA	0.572000														62			21		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342188	65342188	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:65342188C>T	uc003dmn.3	-	22	4780	c.4254G>A	c.(4252-4254)agG>agA	p.R1418R	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1447					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTCTCTGTTCCTTTTGTCCA	0.657000														124			8		0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16339651	16339651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16339651C>T	uc002ndv.2	+	9	1168	c.995C>T	c.(994-996)gCc>gTc	p.A332V	AP1M1_uc002ndu.2_Missense_Mutation_p.A320V|AP1M1_uc010xpd.1_Intron	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	320	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCAATGATGCCGACTCACCC	0.602000														44			4		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24718641	24718642	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24718641_24718642CC>AT	uc001wod.3	-	14	2455_2456	c.2331_2332GG>AT	c.(2329-2334)caggtg>caATtg	p.V778L	TGM1_uc010tog.2_Missense_Mutation_p.V336L	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	778					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ACACCGTGCACCTGGGAGAGCT	0.609000														54			5		0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2838652	2838653	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2838652_2838653GG>AA	uc004cqy.3	-	3	528_529	c.428_429CC>TT	c.(427-429)acc>aTT	p.T143I	ARSD_uc004crb.4_Missense_Mutation_p.T143I	NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	143						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTATGAGGCCGGTTGCATAGCC	0.540000														27			13		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373637	62373637	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62373637G>A	uc010rly.1	-	12	1862	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EML3_uc001ntr.1_Silent_p.F490F|EML3_uc001nts.1_Silent_p.F490F|EML3_uc001ntt.1_Silent_p.F402F|EML3_uc001ntu.1_Silent_p.F518F|EML3_uc009yny.1_Silent_p.F301F			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	518						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						GACACAAGGCGAAGATAGAAC	0.637000														47			5		0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3981385	3981385	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3981385G>A	uc002lze.3	-	6	1046	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	321						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGTTTGATGTCCAGTT	0.512000														176			17		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75283383	75283383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75283383G>A	uc001juo.3	-	14	2337	c.2320C>T	c.(2320-2322)Cat>Tat	p.H774Y	USP54_uc010qkk.2_5'UTR|USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.H774Y	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	774					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)					CGGCTAGGATGAGGGTTAAAC	0.498000														183			19		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276742	42276742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42276742C>T	uc021sjp.1	-	18	2278	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	PLA2G4E_uc010udc.2_Missense_Mutation_p.E203K|PLA2G4E_uc001zov.2_Missense_Mutation_p.E384K	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	748	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTGAGATTTTCATTCTCATCT	0.498000														48			4		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201524	53201524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53201524C>T	uc001saz.3	-	6	1472	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	417						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ACGCAGCATTCGTGCCAGCTC	0.597000														62			8		0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	58999681	58999681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:58999681G>A	uc001cyy.3	-	4	1043	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.H319Y|OMA1_uc009vzz.3_Missense_Mutation_p.H319Y	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	319					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.H319D(2)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GAAAGTTGATGAATATCGGTT	0.338000														42			11		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332265	107332265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:107332265G>A	uc011lvo.2	+	0	817	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCAGGTAATGAAGACATCAT	0.453000														37			4		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777982	201777982	+	Missense_Mutation	SNP	C	T	T	rs142836716		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201777982C>T	uc021phi.1	+	19	4537	c.4190C>T	c.(4189-4191)cCc>cTc	p.P1397L	NAV1_uc001gwu.3_Missense_Mutation_p.P1394L|NAV1_uc001gwx.3_Missense_Mutation_p.P1003L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1397					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCTTCGGCCCCAGTCTTGCA	0.547000														77			9		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183472089	183472089	+	Silent	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:183472089T>G	uc003fly.2	+	10	1521	c.1326T>G	c.(1324-1326)gtT>gtG	p.V442V		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	442					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAAGTCAGGTTCCTAATCCTG	0.438000														50			4		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501130	195501130	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195501130G>A	uc021xjp.1	-	3	13146	c.12990C>T	c.(12988-12990)ttC>ttT	p.F4330F	MUC4_uc003fuz.3_Missense_Mutation_p.S10L|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.F71F|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.F71F|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.F94F|MUC4_uc003fvp.3_Silent_p.F43F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1087					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCTCCTGACGAACTCCAGGT	0.627000														42			8		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98576467	98576467	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98576467C>T	uc003upp.3	+	56	8762	c.8553C>T	c.(8551-8553)ctC>ctT	p.L2851L	TRRAP_uc011kis.2_Silent_p.L2833L|TRRAP_uc003upr.3_Silent_p.L2550L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2851	FAT.				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	p.A2850V(1)		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)			ACCCCTACCTCGTCCTGGAGT	0.627000														104			19		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22872493	22872493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:22872493C>T	uc001yuq.2	+	21	3152	c.3022C>T	c.(3022-3024)Ccc>Tcc	p.P1008S	TUBGCP5_uc001yur.4_Missense_Mutation_p.P1008S	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	1008					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGGATCCTTTCCCCATTGTGA	0.328000														65			10		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288250	45288251	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45288250_45288251GG>AA	uc010olf.2	-	21	3460_3461	c.3448_3449CC>TT	c.(3448-3450)ccc>TTc	p.P1150F	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Missense_Mutation_p.P848F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1150					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)					AAAGCTCTGGGGCAGGGAGGAG	0.629000									Basal Cell Nevus syndrome					131			8		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129278493	129278493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129278493G>A	uc003emx.2	-	31	5367	c.5267C>T	c.(5266-5268)cCc>cTc	p.P1756L	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.P424L	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1756					axon guidance	integral to membrane|intracellular|plasma membrane		p.P1756P(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAGGGTGTCGGGGTCGGAGAT	0.597000														112			7		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117339	7117339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7117339C>T	uc002mgd.1	-	21	3986	c.3877G>A	c.(3877-3879)Gac>Aac	p.D1293N	INSR_uc002mge.1_Missense_Mutation_p.D1281N	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1293	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity	p.D1293Y(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTGCAGGTCGTCCTTGAGC	0.562000														341			52		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468508	56468508	+	Silent	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56468508T>G	uc021wzo.1	-	0	668	c.528A>C	c.(526-528)ggA>ggC	p.G176G	ERC2_uc003dhr.1_Silent_p.G176G	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	176						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)		TCATGGAAGATCCCAATTTGC	0.483000														119			16		0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107102707	107102707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:107102707C>T	uc003prm.3	+	7	1068	c.952C>T	c.(952-954)Cct>Tct	p.P318S		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	318					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGTATCCCTTCCTCACACCAG	0.428000														49			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89156960	89156960	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:89156960C>T	uc021vkt.1	-	299		c.10769G>A			abParts_uc002sti.1_Non-coding_Transcript|abParts_uc002stj.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TTGTGTTTCTCGTAGTCTGCT	0.572000														35			4		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750002	30750002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30750002C>T	uc002dze.1	+	33	9026	c.8641C>T	c.(8641-8643)Ccc>Tcc	p.P2881S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2676S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2881	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGATGAGGCACCCTCATCCAC	0.582000														21			5		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42847676	42847676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42847676C>T	uc002otl.4	+	8	2196	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	MEGF8_uc002otm.4_Missense_Mutation_p.L62F	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	521						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGCTGCGGTGCTTGGTGGCAG	0.637000														57			7		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124663868	124663868	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:124663868G>A	uc003yqs.1	-	0	1323	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	433										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CAAAGAGATAGAGTCTTTGGT	0.532000														104			6		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242004955	242004955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242004955G>A	uc002wah.1	+	20	2954	c.2954G>A	c.(2953-2955)cGa>cAa	p.R985Q	SNED1_uc002wai.1_Missense_Mutation_p.R220Q|SNED1_uc002waj.1_Missense_Mutation_p.R72Q|SNED1_uc002wak.3_Missense_Mutation_p.R72Q	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	985	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAGTGAAGCGAAACAGTAAC	0.657000														41			4		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519721	58519721	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58519721C>T	uc003dkl.3	-	4	650	c.475_splice	c.e4+1	p.G159_splice		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	159					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		cctAGCTCACCATGTCCCAAC	0.522000														65			7		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6127746	6127746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6127746G>A	uc001qnn.1	-	27	5088	c.4838C>T	c.(4837-4839)tCt>tTt	p.S1613F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1613	VWFA 2.		S -> P (in VWD2).		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)	GATCTCATCAGAGGCAGGATT	0.607000														57			13		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284651	223284651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223284651C>T	uc021pjl.1	-	0	1723	c.1723G>A	c.(1723-1725)Gat>Aat	p.D575N	TLR5_uc001hnv.2_Missense_Mutation_p.D575N|TLR5_uc001hnw.2_Missense_Mutation_p.D575N	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	575			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGTTATATCCAAGACACTA	0.388000														17			8		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179170945	179170945	+	Missense_Mutation	SNP	C	T	T	rs77535912		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179170945C>T	uc002uly.3	+	2	578	c.34C>T	c.(34-36)Cat>Tat	p.H12Y	OSBPL6_uc002ulw.3_Missense_Mutation_p.H12Y|OSBPL6_uc002ulx.3_Missense_Mutation_p.H12Y|OSBPL6_uc010zfe.2_Missense_Mutation_p.H12Y|OSBPL6_uc002ulz.3_Missense_Mutation_p.H12Y	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	12					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCCCCTGCTCATAAAACATC	0.453000														45			5		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807457	20807457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:20807457G>A	uc002npb.1	-	3	1376	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	ZNF626_uc002npc.1_Missense_Mutation_p.S333F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAGGTTAGAGGAGTACTTAAA	0.398000														35			4		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100182978	100182978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100182978G>A	uc004egn.2	-	0	921	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	106						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGTCCCAAGAGGATTAGATGC	0.398000														38			9		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498897	31498897	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31498897G>A	uc002ecf.4	+	6	721	c.702G>A	c.(700-702)ctG>ctA	p.L234L	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	234					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						ACAAATACCTGGGAGCAGCGA	0.647000														81			9		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035947	36035947	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:36035947G>A	uc003jjz.2	-	6	1557	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	UGT3A2_uc011cos.2_Silent_p.V441V|UGT3A2_uc011cot.2_Silent_p.V173V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	475						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTGCTGAAAGACATAGGGCT	0.617000														25			4		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210236	100210236	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:100210236G>A	uc002taf.3	-	13	2106	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	AFF3_uc002tag.3_Silent_p.P629P|AFF3_uc010fiq.1_Silent_p.P629P|AFF3_uc010yvr.1_Silent_p.P782P|AFF3_uc002tah.1_Silent_p.P654P	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	629					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTTGCCACAGGGCCTGGTTT	0.721000														57			10		0	0	1	0	0
C2orf63	130162	broad.mit.edu	37	2	55408856	55408856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:55408856G>A	uc002ryi.2	-	9	1377	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.P222L	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	344							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			TAATGGAAGAGGCTTTCCTCT	0.348000														11			4		0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66793834	66793834	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:66793834G>A	uc002apv.3	-	5	620	c.555C>T	c.(553-555)gcC>gcT	p.A185A	RPL4_uc002apx.3_Silent_p.A91A|RPL4_uc010ujq.2_Silent_p.A185A|RPL4_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	185					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCGCTGAGAGGCATAGACCT	0.408000														47			27		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142487558	142487558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142487558C>T	uc003ywi.2	-	11	1471	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	464							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACAGAGTGTCCTGGGGCTCC	0.672000														57			7		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183694776	183694776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183694776G>A	uc003ivd.1	+	21	5119	c.5044G>A	c.(5044-5046)Gat>Aat	p.D1682N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1682					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)		GTCCTCGATCGATTCTTTCTA	0.463000														112			30		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134869	81134869	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81134869G>A	uc002fgh.1	-	44	7233	c.7233C>T	c.(7231-7233)atC>atT	p.I2411I	PKD1L2_uc002fgf.1_Silent_p.I213I|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2413	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAATCTACGATCTCCCCTT	0.493000														24			4		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613905	135613905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:135613905G>A	uc003yup.3	-	5	2243	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	ZFAT_uc003yun.3_Missense_Mutation_p.P674L|ZFAT_uc003yuo.3_Missense_Mutation_p.P674L|ZFAT_uc010meh.3_Missense_Mutation_p.P674L|ZFAT_uc010mej.3_Missense_Mutation_p.P624L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.P674L|ZFAT_uc003yur.3_Missense_Mutation_p.P674L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTACTGGAGGGAGGAGGTC	0.597000														51			8		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36223347	36223347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36223347C>T	uc021usv.1	+	27	5897	c.5897C>T	c.(5896-5898)tCt>tTt	p.S1966F	MLL2_uc021usu.1_Missense_Mutation_p.S780F	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	581					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCGGCCCCATCTCCACCACCC	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				22			5		0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905492	905492	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:905492G>A	uc010dkg.3	+	1	224	c.105G>A	c.(103-105)ggG>ggA	p.G35G	ADCYAP1_uc010dkh.3_Silent_p.G35G	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	35					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGTTCCCCGGGATCAGGTAGG	0.642000														35			9		0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70730013	70730013	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70730013C>T	uc001jov.1	+	7	1383	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	DDX21_uc001jow.1_Silent_p.I363I	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	431	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGATGTCATCCGAGTATATA	0.423000														36			4		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989665	73989665	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73989665C>T	uc021rwe.1	-	2	540	c.192G>A	c.(190-192)ttG>ttA	p.L64L	HEATR4_uc021rwf.1_Silent_p.L17L|HEATR4_uc010tub.1_Silent_p.L64L	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CAGCCATTTTCAAATATTGGC	0.507000														92			5		0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3548160	3548160	+	Silent	SNP	G	A	A	rs143201889		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3548160G>A	uc001ako.3	-	10	1218	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	WRAP73_uc001akn.3_Silent_p.L370L	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	370						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACAGCTGCTCGAGCACCGCGA	0.647000														46			4		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50049127	50049127	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50049127C>T	uc002xwd.3	-	8	2419	c.2199G>A	c.(2197-2199)acG>acA	p.T733T	NFATC2_uc002xwc.3_Silent_p.T733T|NFATC2_uc010zyv.2_Silent_p.T514T|NFATC2_uc010zyw.2_Silent_p.T514T|NFATC2_uc002xwe.3_Silent_p.T713T|NFATC2_uc010zyx.2_Silent_p.T713T|NFATC2_uc010zyy.2_Silent_p.T514T|NFATC2_uc010zyz.2_Silent_p.T514T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	733					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)					ATGAGAGCCCCGTGCGGAACT	0.682000														38			6		0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45182151	45182151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45182151C>T	uc002ozo.4	+	3	1082	c.602C>T	c.(601-603)tCt>tTt	p.S201F	CEACAM19_uc002ozp.4_Missense_Mutation_p.S201F	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	201						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ggccagggatctctgtccatc	0.483000														483			65		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802482	185802482	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:185802482C>T	uc002uph.3	+	3	2953	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	787						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						AAGTTTAAATCGACAGAATCA	0.368000														16			5		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64473926	64473926	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64473926C>T	uc001xgl.3	+	30	4793	c.4563C>T	c.(4561-4563)gcC>gcT	p.A1521A	SYNE2_uc001xgm.3_Silent_p.A1521A|SYNE2_uc021ruh.1_Silent_p.A1521A	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1521					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATACCAAAGCCTTGGTCACCG	0.373000														77			13		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691199	121691199	+	Silent	SNP	G	A	A	rs149343557		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:121691199G>A	uc001tzv.3	-	9	1813	c.984C>T	c.(982-984)atC>atT	p.I328I	CAMKK2_uc001tzt.3_Silent_p.I328I|CAMKK2_uc001tzu.3_Silent_p.I328I|CAMKK2_uc001tzw.3_Silent_p.I328I|CAMKK2_uc001tzx.3_Silent_p.I328I|CAMKK2_uc001tzy.3_Silent_p.I328I|CAMKK2_uc001tzz.1_Silent_p.I115I|CAMKK2_uc001uaa.1_Silent_p.I328I|CAMKK2_uc001uab.3_Silent_p.I328I|CAMKK2_uc001uac.3_Silent_p.I328I	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	328	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAAGTCAGCGATCTTGATGT	0.567000														457			37		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1075533	1075533	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:1075533G>A	uc003jbu.3	-	14	1986	c.1920C>T	c.(1918-1920)tcC>tcT	p.S640S		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	640					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCATGGCGGACAGCGCGT	0.657000														43			4		0	0	1	0	0
DEM1	64789	broad.mit.edu	37	1	40980366	40980366	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40980366C>T	uc001cfp.3	+	2	355	c.150C>T	c.(148-150)tcC>tcT	p.S50S	DEM1_uc001cfq.3_Silent_p.S50S|DEM1_uc001cfr.3_Silent_p.S50S|DEM1_uc021omb.1_Silent_p.S50S	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	50							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						CTTCTGAATCCCTTGGGAAGG	0.418000														62			22		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127334785	127334785	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127334785G>A	uc003ejp.3	+	8	1566	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	MCM2_uc011bkm.2_Silent_p.E373E|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.E456E	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	503	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCGGAGGGGAGCCCAAAAACC	0.527000														95			5		0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635639	200635639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200635639G>A	uc009wzk.3	-	1	473	c.230C>T	c.(229-231)cCc>cTc	p.P77L	DDX59_uc010ppl.1_Missense_Mutation_p.P77L	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	77			P -> T (in a breast cancer sample; somatic mutation).			intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding	p.P77T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACCCTGCTCGGGACTTACTGA	0.547000														69			13		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74808960	74808960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74808960C>T	uc002smy.3	-	4	727	c.610G>A	c.(610-612)Gga>Aga	p.G204R	C2orf65_uc010ysa.2_Missense_Mutation_p.G204R|C2orf65_uc002smz.2_Missense_Mutation_p.G204R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	204					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						ATGTCAGTTCCCAGAATAGAA	0.338000														42			10		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265030	39265030	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39265030C>T	uc001uwv.3	+	0	3858	c.3549C>T	c.(3547-3549)atC>atT	p.I1183I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1183					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCATTGTAATCATTCCCACCA	0.428000														83			20		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46406977	46406977	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46406977G>A	uc001nct.1	-	0	1131	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	377					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CGATGCTGGCGAACTTGCGGG	0.612000														121			12		0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119061433	119061433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:119061433C>T	uc010rze.2	-	5	680	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	156										lung(3)|stomach(1)	4						AAGATTTCCTCATACTTCGCC	0.607000														81			7		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898295	46898295	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46898295C>T	uc001ndn.4	-	24	3607	c.3364_splice	c.e24+1	p.G1122_splice		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1122					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAAGGCCCACCTGTGGTGATG	0.537000														103			11		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613141	51613141	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:51613141G>A	uc003pah.1	-	57	9549	c.9273C>T	c.(9271-9273)ctC>ctT	p.L3091L	PKHD1_uc010jzn.1_Silent_p.L1074L|PKHD1_uc003pai.3_Silent_p.L3091L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3091					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGTTGCCATGGAGGTTGATGT	0.502000														39			5		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50759401	50759401	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:50759401C>T	uc002egm.1	+	10	2988	c.2883_splice	c.e10-1	p.C961_splice	NOD2_uc010vgq.1_Splice_Site_p.C6_splice	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	961					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTCACCAGCCTGGAGGAGAA	0.413000														61			7		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416352	48416352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48416352C>T	uc001jfa.1	-	0	502	c.342G>A	c.(340-342)atG>atA	p.M114I		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	114					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCTACCTTCCATGCTGAAGC	0.602000														64			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725351	106725351	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106725351G>A	uc021ser.1	-	927		c.22161C>T								Parts of antibodies, mostly variable regions.																		TAATAGCTGAGACCCACTCCA	0.572000														127			9		0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14589289	14589290	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14589289_14589290GG>AT	uc002myt.3	-	8	1210_1211	c.940_941CC>AT	c.(940-942)cct>ATt	p.P314I	GIPC1_uc002myv.3_Missense_Mutation_p.P217I|GIPC1_uc002myu.3_Missense_Mutation_p.P314I|GIPC1_uc002myw.3_Missense_Mutation_p.P217I|GIPC1_uc002myx.3_Missense_Mutation_p.P314I|GIPC1_uc002myy.3_Missense_Mutation_p.P217I	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	314					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						GAACTCGTCAGGGAAGGCAAAG	0.644000														35			4		0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623830	2623830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:2623830G>A	uc003mtw.2	-	2	1212	c.227C>T	c.(226-228)tCt>tTt	p.S76F	C6orf195_uc021ykp.1_Missense_Mutation_p.S76F	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	76										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCAGTGGGGAGATGGGGCAGG	0.617000														85			6		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	27964478	27964478	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27964478G>A	uc001ity.4	-	5	1069	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	MKX_uc001itx.4_Silent_p.L282L	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	282					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCGTTTTCCAGAGTGTCTGTA	0.373000														9			4		0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151206841	151206841	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151206841T>G	uc001exj.3	+	7	1260	c.808T>G	c.(808-810)Tcc>Gcc	p.S270A	PIP5K1A_uc021oyo.1_Missense_Mutation_p.S258A|PIP5K1A_uc001exi.3_Missense_Mutation_p.S257A|PIP5K1A_uc010pcu.2_Missense_Mutation_p.S258A|PIP5K1A_uc001exk.3_Missense_Mutation_p.S257A|PIP5K1A_uc010pcv.2_Missense_Mutation_p.S27A	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	270	PIPK.				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGGCGGGCTTCCCAGAAAGA	0.428000														42			5		0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57246282	57246282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57246282C>T	uc002xzi.3	+	6	1475	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	STX16_uc021wfi.1_Missense_Mutation_p.R188C|STX16_uc002xzk.3_Missense_Mutation_p.R224C|STX16_uc010zzq.2_Missense_Mutation_p.R55C|STX16_uc002xzl.3_Missense_Mutation_p.R55C|STX16_uc002xzm.3_Missense_Mutation_p.R237C|STX16_uc002xzj.3_Missense_Mutation_p.R220C|STX16_uc021wfj.1_Missense_Mutation_p.R55C	NM_001001433	NP_001191797	O14662	STX16_HUMAN	Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA.	241	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane|microsome	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ACGAGAGATTCGCCAGATTGT	0.483000														67			20		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1041405	1041405	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1041405C>T	uc002lqw.4	+	1	276	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Silent_p.F15F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	15					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGAATTTCATGTATCGCC	0.632000														97			11		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102553616	102553616	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:102553616A>G	uc003vaq.2	-	10	1352	c.925T>C	c.(925-927)Ttc>Ctc	p.F309L	FBXL13_uc010liq.1_Missense_Mutation_p.F124L|FBXL13_uc010lir.1_Missense_Mutation_p.F309L|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.F309L|LRRC17_uc003vat.3_Intron|LRRC17_uc003vau.3_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	309										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTGTCTGTGAACCGTCTGCAA	0.438000														30			5		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102338148	102338148	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:102338148C>T	uc004eju.3	-	5	665	c.594G>A	c.(592-594)ctG>ctA	p.L198L	NXF3_uc010noi.1_Silent_p.L48L|NXF3_uc011mrw.1_Silent_p.L198L|NXF3_uc011mrx.1_Silent_p.L109L	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	198						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			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						TTTCTGACTTCAGCTCCCTGT	0.502000														35			7		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498640	19498640	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19498640C>T	uc002dgc.4	+	16	3314	c.2565C>T	c.(2563-2565)acC>acT	p.T855T	TMC5_uc010vaq.2_Silent_p.T803T|TMC5_uc002dgb.4_Silent_p.T855T|TMC5_uc010var.2_Silent_p.T855T|TMC5_uc002dgd.1_Silent_p.T609T|TMC5_uc002dge.4_Silent_p.T609T|TMC5_uc002dgf.4_Silent_p.T538T|TMC5_uc002dgg.4_Silent_p.T496T	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	855						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCCATCACCATCTGGAGGT	0.507000														28			4		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34049413	34049413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34049413C>T	uc001bxm.1	-	46	7246	c.7069G>A	c.(7069-7071)Gag>Aag	p.E2357K	CSMD2_uc001bxn.1_Missense_Mutation_p.E2359K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2359	CUB 14.					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)				GTCAGAAGCTCATTTGTTGGA	0.512000														57			11		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697039	169697040	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169697039_169697040GG>AA	uc001ggm.4	-	8	1465_1466	c.1308_1309CC>TT	c.(1306-1311)cccccg>ccTTcg	p.P437S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	437	Sushi 5.				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)					AAACCCTTCGGGGGCTGGTGGA	0.490000														36			4		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41548061	41548061	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41548061C>A	uc003xok.3	-	31	3999	c.3915G>T	c.(3913-3915)aaG>aaT	p.K1305N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.K621N|ANK1_uc003xoi.3_Missense_Mutation_p.K1305N|ANK1_uc003xoj.3_Missense_Mutation_p.K1305N|ANK1_uc003xol.3_Missense_Mutation_p.K1305N|ANK1_uc003xom.3_Missense_Mutation_p.K1346N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1305					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCAGCTTTCTTCACAGGCA	0.557000														102			6		0.0293803	0.029572	1	1	0
SNRK	54861	broad.mit.edu	37	3	43388920	43388920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:43388920C>T	uc003cms.4	+	6	1501	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	SNRK_uc003cmt.4_Missense_Mutation_p.S390F|SNRK_uc010hik.3_Missense_Mutation_p.S390F|SNRK_uc011azr.2_Missense_Mutation_p.S184F	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	390					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTCCCTCAGTCTCCTGCTCGG	0.557000														62			6		0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864557	4864557	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:4864557C>A	uc003gif.3	+	1	834	c.599C>A	c.(598-600)gCc>gAc	p.A200D		NM_002448	NP_002439	P28360	MSX1_HUMAN	Homo sapiens msh homeobox 1 (MSX1), mRNA.	194					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGTCCATCGCCGAGCGCGCG	0.622000														59			11		0.00136819	0.00138032	1	1	0
LRRC43	254050	broad.mit.edu	37	12	122685385	122685385	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122685385C>T	uc009zxm.3	+	9	1738	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	LRRC43_uc001ubw.4_Silent_p.I386I|LRRC43_uc009zxn.3_Silent_p.I332I|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	571										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCTGGTGATCCTGGAGCCCC	0.662000														63			6		0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160312	61160312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61160312C>T	uc002liz.4	+	4	693	c.551C>T	c.(550-552)cCt>cTt	p.P184L	SERPINB5_uc002liy.2_Missense_Mutation_p.P184L	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	184					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAAGAATGTCCTTTCAGAGTC	0.408000														52			5		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255385	70255385	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:70255385C>T	uc003tvw.4	+	18	3918	c.3183C>T	c.(3181-3183)ttC>ttT	p.F1061F	AUTS2_uc003tvx.4_Silent_p.F1037F|AUTS2_uc011keg.2_Silent_p.F513F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1061										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGAGCGCTTCCCGTACCCTT	0.622000														20			4		0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15060078	15060078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15060078C>T	uc003gnk.2	+	8	2495	c.2495C>T	c.(2494-2496)tCa>tTa	p.S832L	CPEB2_uc003gnl.2_Missense_Mutation_p.S805L|CPEB2_uc003gnm.2_Missense_Mutation_p.S802L|CPEB2_uc003gni.2_Missense_Mutation_p.S824L|CPEB2_uc003gnn.2_Missense_Mutation_p.S797L|CPEB2_uc003gnj.2_Missense_Mutation_p.S794L	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	387					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAAGAGAGCTCAGTTCAGGCA	0.378000														16			4		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760447	54760447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54760447G>A	uc010yer.1	-	2	371	c.260C>T	c.(259-261)tCc>tTc	p.S87F	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.S87F|LILRB5_uc002qez.3_Missense_Mutation_p.S87F|LILRB5_uc002qex.3_Missense_Mutation_p.S87F|LILRB5_uc002qfa.1_Missense_Mutation_p.S77F|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	87	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.S87F(6)|p.S87S(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATACACCGTGGATGGAATGTG	0.607000														203			23		0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70519861	70519861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70519861C>T	uc004dzo.3	+	12	2061	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.P451S|NONO_uc004dzp.3_Missense_Mutation_p.P451S|NONO_uc011mpv.2_Missense_Mutation_p.P362S|NONO_uc004dzq.3_Missense_Mutation_p.P320S|ITGB1BP2_uc004dzr.1_5'Flank|ITGB1BP2_uc004dzs.1_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	451					DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGGTGGAACTCCTCCTGCATT	0.463000			T	TFE3	papillary renal cancer									40			6		0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39223219	39223219	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39223219G>A	uc001rls.1	-	5	453	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	123								p.?(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTGAACCAACGATCTCTCCCA	0.328000														67			7		0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42448644	42448644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42448644C>T	uc003cle.3	-	1	349	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	34					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCCAGGCCTCCATCGTGGAGT	0.547000														42			6		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160165264	160165264	+	Silent	SNP	C	T	T	rs141157148	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160165264C>T	uc010pja.2	+	4	848	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	197						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAAAGCCTTCGAGGATGCAG	0.557000														74			12		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755687	91755687	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91755687C>T	uc010aty.3	-	25	4357	c.4203_splice	c.e25-1	p.K1401_splice		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1401					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGTGGTTCTTCCTGGTTAGAA	0.527000														181			33		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575245	136575245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136575245G>A	uc002tuu.1	-	5	1384	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	458	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGATCCGGGACCAGGAGAT	0.627000														69			7		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461501	11461501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11461501C>T	uc001qzf.1	-	2	450	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PRB4_uc001qzt.3_Missense_Mutation_p.G139E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	202	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.602000										HNSCC(22;0.051)				165			19		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64641554	64641554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64641554G>A	uc002jfo.1	+	5	559	c.67G>A	c.(67-69)Gga>Aga	p.G23R	PRKCA_uc002jfp.1_Missense_Mutation_p.G152R			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	152					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAGCCTCTGCGGAATGGATCA	0.522000														35			9		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302627	15302627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15302627C>T	uc002nan.3	-	4	807	c.731G>A	c.(730-732)cGa>cAa	p.R244Q	NOTCH3_uc002nao.1_Missense_Mutation_p.R244Q	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	244	EGF-like 6; calcium-binding (Potential).		Missing (in CADASIL).		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)			ATTGAGACATCGGTGTCCTGG	0.617000														66			6		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866224	131866224	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131866224G>A	uc003vra.4	-	17	3637	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1136	IPT/TIG 3.					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						GATAGTAGGTGAAGTTGGTCT	0.572000														125			11		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541018	187541018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187541018G>A	uc003izf.3	-	9	6910	c.6722C>T	c.(6721-6723)cCt>cTt	p.P2241L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2241	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAAGTCCAGAGGAGCTATGAC	0.493000										HNSCC(5;0.00058)				135			7		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273157	28273157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28273157C>T	uc009xky.3	-	4	736	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.G213E|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	213							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTCCTTTTCCTGAGAAACG	0.308000														27			7		0	0	1	0	0
ZC3H8	84524	broad.mit.edu	37	2	112996074	112996074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112996074G>A	uc021vmw.1	-	2	294	c.188C>T	c.(187-189)tCg>tTg	p.S63L		NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN	Homo sapiens zinc finger CCCH-type containing 8 (ZC3H8), mRNA.	63					T cell homeostasis|apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						TCTATGCAGCGAACTTTTTGG	0.318000														68			5		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178811	223178811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223178811C>T	uc001hnu.2	+	9	4398	c.4072C>T	c.(4072-4074)Cac>Tac	p.H1358Y		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1358					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTTTTCCTCCACCCAGTGCA	0.512000														293			21		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73746258	73746258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73746258G>A	uc002jpg.3	+	27	3570	c.3383G>A	c.(3382-3384)gGc>gAc	p.G1128D	ITGB4_uc002jph.3_Missense_Mutation_p.G1128D|ITGB4_uc002jpi.4_Missense_Mutation_p.G1128D|ITGB4_uc002jpj.3_Missense_Mutation_p.G1128D	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1128	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGACCTGGGCGCCCCGCAG	0.617000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			12		0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29706143	29706143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29706143C>T	uc002dto.3	+	1	250	c.172C>T	c.(172-174)Cct>Tct	p.P58S	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Intron	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	58					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)	GGCAGGGCAGCCTTTCTTCGA	0.647000														113			8		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907695	103907695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:103907695C>T	uc001phr.2	+	0	388	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	49	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCAGATCATCCACATGGAGCG	0.562000														89			8		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159367	123159367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123159367C>T	uc003ieh.3	+	25	3740	c.3695C>T	c.(3694-3696)tCc>tTc	p.S1232F	KIAA1109_uc003iei.1_Missense_Mutation_p.S985F|KIAA1109_uc010ins.1_Missense_Mutation_p.S575F|KIAA1109_uc003iek.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1232	Poly-Ser.				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						TCATCCTCTTCCTCAGAAGAG	0.413000														37			7		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881473	33881473	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33881473C>T	uc003jia.1	-	1	403	c.240G>A	c.(238-240)agG>agA	p.R80R	ADAMTS12_uc010iuq.1_Silent_p.R80R|ADAMTS12_uc003jib.1_Silent_p.R80R	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	80					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AATCTCTCTTCCTCCTGCTGC	0.488000										HNSCC(64;0.19)				60			12		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484986	43484986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:43484986G>A	uc003tid.1	+	10	2820	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	HECW1_uc011kbi.1_Missense_Mutation_p.E739K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	739					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E718*(1)|p.E739*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAGACGACGAGGAGGAGGA	0.642000														94			14		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161157941	161157941	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161157941G>A	uc003qtm.4	+	13	1816	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	568					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)	TTGATTGTGGGAAGCCTCAAG	0.507000														23			4		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397703	10397703	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10397703C>T	uc002mnr.2	+	0	61	c.15C>T	c.(13-15)ttC>ttT	p.F5F	ICAM4_uc002mns.2_Silent_p.F5F|ICAM4_uc002mnt.2_Silent_p.F5F|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	5					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGTCTCTGTTCCCTCTGTCGC	0.672000														20			4		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1054255	1054255	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1054255G>T	uc002lqw.4	+	26	3872	c.3641G>T	c.(3640-3642)tGg>tTg	p.W1214L	ABCA7_uc010dsb.1_Missense_Mutation_p.W1076L|ABCA7_uc002lqy.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1214					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACAGGGCTGGGCACTGACC	0.692000														29			5		0.000602214	0.000607816	1	1	0
FAM123C	205147	broad.mit.edu	37	2	131520713	131520713	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:131520713G>A	uc021voy.1	+	0	1068	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	FAM123C_uc002trw.2_Silent_p.R356R|FAM123C_uc010fmv.2_Silent_p.R356R|FAM123C_uc010fms.1_Silent_p.R356R|FAM123C_uc010fmt.1_Silent_p.R356R|FAM123C_uc010fmu.1_Silent_p.R356R	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	356										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCCCTGCAGGGACCCTCGCA	0.657000														42			6		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745392	27745392	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27745392G>A	uc002rky.3	+	17	1704	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q	GCKR_uc010ezd.3_Silent_p.Q544Q|GCKR_uc010ylu.2_Silent_p.Q356Q	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	546					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACTTTCCCCAGCCACTGTCAG	0.532000														116			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22764309	22764309	+	RNA	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22764309C>T	uc021wml.1	+	63		c.6911C>T								Parts of antibodies, mostly variable regions.																		TTCCAGGGTCCTGGGCCCAGT	0.617000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		160			12		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58437563	58437563	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58437563G>A	uc002qqs.1	-	3	2278	c.1986C>T	c.(1984-1986)ctC>ctT	p.L662L	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.L577L	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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;0.0158)		GATGTCGAAGGAGAGAAGAGC	0.413000														53			6		0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40746990	40746990	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40746990A>T	uc003jma.3	-	1	279	c.131T>A	c.(130-132)aTt>aAt	p.I44N	TTC33_uc011cpm.2_5'UTR|TTC33_uc010ivg.3_Missense_Mutation_p.I44N	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	Homo sapiens tetratricopeptide repeat domain 33 (TTC33), mRNA.	44							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTACGTTTAATGGCATGAAG	0.428000														24			5		0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55888983	55888983	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55888983C>T	uc002qkt.1	+	2	135	c.117C>T	c.(115-117)gaC>gaT	p.D39D		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	39	P-type.					integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATATGGGACCGGGAGAGCT	0.632000														161			10		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473933	6473933	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6473933C>T	uc003gjc.3	-	0	241	c.24G>A	c.(22-24)cgG>cgA	p.R8R	PPP2R2C_uc011bwd.2_Intron|PPP2R2C_uc011bwe.2_Intron	NM_001206996	NP_001193925	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 5, mRNA.	8					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GGTTAATTTTCCGCGTGTCCG	0.667000														160			10		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603750	95603750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:95603750G>A	uc001tdp.4	-	1	1534	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	437					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAGCAAGCGACATACTAGA	0.393000														51			9		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4534978	4534978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4534978C>T	uc002fyh.3	-	13	1931	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	ALOX15_uc010vsd.2_Missense_Mutation_p.E597K|ALOX15_uc010vse.2_Missense_Mutation_p.E658K	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	636	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.K635K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ATCTCAATTTCCTTATCCAGG	0.577000														132			8		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490098	65490098	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65490098G>A	uc002aon.2	-	8	2707	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	842					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATTTGGGTTGAATTTAGGAG	0.527000														88			9		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247634	164247634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164247634G>A	uc003iqm.2	-	1	538	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	NPY1R_uc021xtv.1_Missense_Mutation_p.L25F|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	25					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAGCCAGAAGCTGGGCATTC	0.373000														26			8		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642846	156642846	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156642846G>A	uc001fpq.3	-	3	1267	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	378	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACGGGCCTGGAGGAATTCTT	0.597000														218			10		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928468	56928468	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56928468C>T	uc002ekd.4	+	21	2603	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	SLC12A3_uc010ccm.3_Silent_p.L849L|SLC12A3_uc010ccn.3_Silent_p.L857L	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	849					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCCTATCTCCTTGGCCGCA	0.557000														29			6		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644652	169644652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169644652C>T	uc003fgd.3	+	5	869	c.602C>T	c.(601-603)tCc>tTc	p.S201F	SAMD7_uc003fge.3_Missense_Mutation_p.S201F|SAMD7_uc011bpo.2_Missense_Mutation_p.S102F	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	201										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCTGAGAGTTCCAAAAGTCAA	0.463000														30			4		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238772	3238772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3238772G>A	uc004crg.4	-	4	5111	c.4954C>T	c.(4954-4956)Cct>Tct	p.P1652S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1652						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)				GCCCCAGAAGGATATGTAGTT	0.453000														95			9		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138926	42138927	+	Missense_Mutation	DNP	CT	AC	AC			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42138926_42138927CT>AC	uc001zoo.4	+	22	2573_2574	c.2533_2534CT>AC	c.(2533-2535)ctg>ACg	p.L845T	JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.L845T|JMJD7-PLA2G4B_uc001zoq.4_Missense_Mutation_p.L315T|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.L614T	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	614					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCTGTGCCTGCTGGATGTTGGC	0.599000														107			15		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742769	10742769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10742769C>T	uc002mpf.3	+	9	899	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SLC44A2_uc002mpe.4_Missense_Mutation_p.R252C|SLC44A2_uc002mpg.1_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	254					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CATCCTGCTTCGCTTCCTGGC	0.547000														204			45		0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30659890	30659890	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30659890C>T	uc003ahb.3	-	2	782	c.741G>A	c.(739-741)agG>agA	p.R247R		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	247					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCAGCTGTCCCCTGGTCATGA	0.657000														139			8		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774621	121774621	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:121774621G>A	uc003idn.3	-	2	502	c.252C>T	c.(250-252)ttC>ttT	p.F84F	PRDM5_uc003ido.3_Silent_p.F84F|PRDM5_uc010ine.3_Silent_p.F84F|PRDM5_uc010inf.3_Silent_p.F84F|PRDM5_uc003idp.1_Silent_p.F84F	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	84	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCATGAACGAAGCGAAGCC	0.468000														139			18		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18961014	18961014	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:18961014C>T	uc001bay.3	+	1	901	c.303C>T	c.(301-303)atC>atT	p.I101I	PAX7_uc001baz.3_Silent_p.I101I|PAX7_uc010oct.2_Silent_p.I101I	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	101	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGGGCCATCGGCGGCAGCA	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma									37			20		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307487	37307487	+	Silent	SNP	G	A	A	rs140524228		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37307487G>A	uc001caz.2	-	9	1515	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	GRIK3_uc001cba.1_Silent_p.D460D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	460					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCGAACCGGTCATTCCCGT	0.577000														138			27		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35339031	35339031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:35339031C>T	uc001mwd.3	-	1	642	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	SLC1A2_uc021qfx.1_Missense_Mutation_p.R8Q|SLC1A2_uc001mwe.3_Missense_Mutation_p.R8Q|SLC1A2_uc010rev.1_Missense_Mutation_p.R17Q|SLC1A2_uc021qfy.1_Missense_Mutation_p.R62Q	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTCGTGCATTCGCACTTCCAC	0.567000														226			12		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824203	54824203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:54824203C>T	uc002xxb.2	+	0	416	c.304C>T	c.(304-306)Cac>Tac	p.H102Y		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGCCATCGTCCACAGCGACTA	0.557000														34			8		0	0	1	0	0
RAB4B	53916	broad.mit.edu	37	19	41285941	41285941	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41285941C>T	uc002opd.2	+	1	191	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	RAB4B_uc010xvt.1_Non-coding_Transcript|RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Silent_p.L38L	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	12					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTTCAAATTCCTGGTGATTGG	0.473000														80			15		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578779	44578779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44578779C>T	uc003tlb.3	-	1	1273	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	NPC1L1_uc011kbw.2_Missense_Mutation_p.R406Q|NPC1L1_uc003tlc.3_Missense_Mutation_p.R406Q|NPC1L1_uc003tld.3_Missense_Mutation_p.R406Q	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	406					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGGTTGGTTCGGAAGAAGGG	0.592000														135			6		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132021797C>T	uc002tsn.2	+	14	2821	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.F523F|POTEE_uc002tsl.2_Silent_p.F505F|POTEE_uc010fmy.1_Silent_p.F387F	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	923	Actin-like.						ATP binding										CCCTGGACTTCGAGCAGGAGA	0.597000														179			16		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845250	50845250	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50845250C>T	uc003blb.2	+	4	782	c.360C>T	c.(358-360)ctC>ctT	p.L120L	PPP6R2_uc003blc.3_Silent_p.L120L|PPP6R2_uc003bky.2_Silent_p.L120L|PPP6R2_uc003bla.2_Silent_p.L120L|PPP6R2_uc003bkz.2_Silent_p.L120L	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	120						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.L120L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ATCCTCTGCTCGCCAGTTTTT	0.557000														360			27		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110592132	110592132	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110592132C>T	uc010mcp.3	-	5	992	c.630G>A	c.(628-630)agG>agA	p.R210R	SYBU_uc003yni.4_Silent_p.R207R|SYBU_uc003ynk.4_Silent_p.R91R|SYBU_uc003ynj.4_Silent_p.R210R|SYBU_uc010mco.3_Silent_p.R209R|SYBU_uc003ynl.4_Silent_p.R209R|SYBU_uc010mcq.3_Silent_p.R210R|SYBU_uc003yno.4_Silent_p.R91R|SYBU_uc010mcr.3_Silent_p.R210R|SYBU_uc003ynm.4_Silent_p.R209R|SYBU_uc003ynn.4_Silent_p.R209R|SYBU_uc010mcs.3_Silent_p.R91R|SYBU_uc010mct.3_Silent_p.R210R|SYBU_uc010mcu.3_Silent_p.R209R|SYBU_uc003ynp.4_Silent_p.R142R|SYBU_uc010mcv.3_Silent_p.R210R|SYBU_uc003ynh.4_Silent_p.R4R|SYBU_uc011lhw.2_Silent_p.R80R	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	210	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane		p.L210L(1)		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						TCAGCTGATTCCTGCACAGCA	0.557000														111			8		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022636	18022636	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:18022636C>T	uc021trm.1	+	0	741	c.522C>T	c.(520-522)ttC>ttT	p.F174F	MYO15A_uc021trl.1_Silent_p.F174F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	174	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AACTCCCCTTCCCGTCGGGTG	0.711000														38			9		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73415021	73415021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:73415021C>T	uc002avm.4	+	2	796	c.604C>T	c.(604-606)Cca>Tca	p.P202S	NEO1_uc010ukx.2_Missense_Mutation_p.P202S|NEO1_uc010uky.2_Missense_Mutation_p.P202S|NEO1_uc002avn.4_Missense_Mutation_p.P202S|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TATCAAACTTCCAAGTGGAAT	0.448000														25			4		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350803	134350803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:134350803C>T	uc003qem.1	-	1	331	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	54						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCATAACCCACCAGGAGGCCA	0.522000														31			4		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47770613	47770613	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47770613A>G	uc001crd.1	-	2	255	c.100T>C	c.(100-102)Tgg>Cgg	p.W34R	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.W34R|STIL_uc010omo.1_Missense_Mutation_p.W34R|STIL_uc001crc.1_Missense_Mutation_p.W34R|STIL_uc001cre.1_Missense_Mutation_p.W34R|STIL_uc001crg.1_Missense_Mutation_p.W34R	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	34					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTTGGGTTCCAAAGTGCACAT	0.358000														22			8		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285122	44285122	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:44285122G>A	uc010qfe.1	-	0	744	c.714C>T	c.(712-714)ggC>ggT	p.G238G						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		ttccatcacggccaaaattac	0.522000														46			10		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57951298	57951298	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57951298G>A	uc002emt.2	-	20	2105	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	CNGB1_uc010cdh.2_Silent_p.F674F	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	680					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCTGGTAGGGGAAGGCCCAGC	0.562000														103			7		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81558908	81558908	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:81558908C>T	uc001xvd.1	+	5	657	c.501C>T	c.(499-501)atC>atT	p.I167I	TSHR_uc001xvb.1_Silent_p.I167I|TSHR_uc001xvc.3_Silent_p.I167I|TSHR_uc010tvs.2_Silent_p.I167I	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	167			I -> N (in CHNG1).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGACGTCAATCCCTGTGAATG	0.408000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							25			3		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961201	5961201	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5961201G>A	uc003git.2	-	6		c.2030C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTGGGCTCAGGAGCTCAGAGG	0.522000														64			6		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49949581	49949581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49949581G>A	uc001ruh.1	+	11	2575	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q	KCNH3_uc010smj.1_Missense_Mutation_p.R712Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	772					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R771H(2)		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						TCCCCACGTCGAACAGCACCC	0.692000														36			5		0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11541767	11541767	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11541767G>A	uc002mrs.3	-	1	461	c.318C>T	c.(316-318)ctC>ctT	p.L106L	CCDC151_uc002mrr.3_Silent_p.L41L|CCDC151_uc010dxz.3_Silent_p.L106L	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	106										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCTCCTTGCGGAGCTGACTGA	0.572000														171			11		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76063328	76063328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76063328C>T	uc010kbe.3	-	4	1095	c.565G>A	c.(565-567)Gag>Aag	p.E189K	FILIP1_uc003phy.1_Missense_Mutation_p.E186K|FILIP1_uc003phz.3_Missense_Mutation_p.E87K|FILIP1_uc003pia.3_Missense_Mutation_p.E186K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	186								p.E186K(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTATGCTTCTCGTTCTCTAAC	0.517000														88			11		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37555367	37555367	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37555367C>T	uc003chd.3	+	8	1064	c.1011C>T	c.(1009-1011)gtC>gtT	p.V337V	ITGA9_uc003chc.3_Silent_p.V337V	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	337					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGGGACAGGTCACTGTCTACA	0.582000														81			7		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891227	29891227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29891227G>A	uc010vec.2	-	8	1776	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.P441S|SEZ6L2_uc002dur.4_Missense_Mutation_p.P441S|SEZ6L2_uc002duq.4_Missense_Mutation_p.P511S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P467S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P397S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	511	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTTCTGTGGGATCCACACAT	0.627000														164			30		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766084	57766084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57766084C>T	uc002yan.3	+	0	10	c.10C>T	c.(10-12)Cca>Tca	p.P4S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	4	Pro-rich.					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)					AATGGAGGTTCCAGAACCCAC	0.617000														58			9		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48773927	48773927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:48773927C>T	uc001zwx.2	-	31	4284	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1297	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCGTGTTTTCACAGGTCCCA	0.373000														32			4		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6230620	6230620	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6230620G>A	uc002mek.3	-	3	545	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	127					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.P127P(2)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACTCCGTGGTGGGGTTGTTGA	0.667000			T	MLL	AL									144			20		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705123	2705123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2705123C>T	uc009zdu.1	+	19	3060	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S916F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S916F|CACNA1C_uc001qke.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S916F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S916F|CACNA1C_uc001qko.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S916F|CACNA1C_uc001qku.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S916F|CACNA1C_uc001qks.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S913F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S916F|CACNA1C_uc001qka.1_Missense_Mutation_p.S451F|CACNA1C_uc001qki.1_Missense_Mutation_p.S652F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	916					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	p.S915P(1)		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)	AGCAGCATTTCCCTGGCTGCT	0.582000														38			5		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215514	208215514	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:208215514G>A	uc001hgz.3	-	21	4973	c.4215C>T	c.(4213-4215)ctC>ctT	p.L1405L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1405					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCAGCTGCTTGAGGACATCAG	0.612000														53			6		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76809475	76809475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76809475G>A	uc003hix.3	-	5	781	c.424C>T	c.(424-426)Cat>Tat	p.H142Y	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.H142Y	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	142	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAGCGAGCATGGAGCTGCTAC	0.473000														52			10		0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796202	11796202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11796202G>A	uc021upi.1	+	2	818	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	ZNF833P_uc002msl.4_Non-coding_Transcript					Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.									p.S48R(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						AGTTCCATTCGAAAACATGCA	0.353000														9			8		0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113532692	113532692	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113532692C>T	uc002tig.3	-	6	1728	c.768G>A	c.(766-768)ggG>ggA	p.G256G		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	256					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						AGGGTGGCCCCCCTGCCAAGC	0.478000														47			7		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16059904	16059904	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16059904C>T	uc010xov.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCATCTTGTTCCTGCTGTACC	0.483000														76			18		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730924	57730924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57730924G>A	uc010bfw.3	+	2	920	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CGNL1_uc002aeg.3_Missense_Mutation_p.E243K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	243	Head.					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)		CTGCACCAAGGAGAGGGTGGG	0.547000														100			6		0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80919828	80919828	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:80919828C>T	uc004ala.3	+	3	437	c.369C>T	c.(367-369)atC>atT	p.I123I	PSAT1_uc004alb.3_Silent_p.I123I	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	123					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTATAAATATCGTTCACCCTA	0.502000														35			6		0	0	1	0	0
DLX1	1745	broad.mit.edu	37	2	172952913	172952913	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:172952913C>T	uc002uhl.3	+	2	894	c.696C>T	c.(694-696)tcC>tcT	p.S232S	DLX1_uc002uhm.3_3'UTR	NM_178120	NP_835221	P56177	DLX1_HUMAN	Homo sapiens distal-less homeobox 1 (DLX1), transcript variant 1, mRNA.	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ACGCGGGCTCCTATATCCCCA	0.617000														108			6		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35753777	35753777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35753777G>A	uc003jjo.3	+	23	3493	c.3382G>A	c.(3382-3384)Gag>Aag	p.E1128K	SPEF2_uc003jjp.1_Missense_Mutation_p.E614K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1128					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAGGCGGAGCAGGAGCG	0.498000														72			21		0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40710373	40710373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40710373C>T	uc001zls.3	+	11	1526	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	IVD_uc001zlq.2_Nonsense_Mutation_p.R368*|IVD_uc001zlr.2_Nonsense_Mutation_p.R101*	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	395					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CCGCTTTCTTCGAGATGCCAA	0.527000														71			6		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180153184	180153184	+	Splice_Site	SNP	C	T	T	rs146785605	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180153184C>T	uc001gnz.3	+	7	962	c.887_splice	c.e7+1	p.R296_splice	QSOX1_uc001gny.3_Splice_Site_p.R296_splice	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	296					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTGGCAGATCGGTAAGGCTA	0.542000														102			23		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109768430	109768430	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:109768430G>A	uc011eaq.2	-	16	2421	c.2130C>T	c.(2128-2130)gcC>gcT	p.A710A	MICAL1_uc003ptj.3_Silent_p.A691A|MICAL1_uc003ptk.3_Silent_p.A691A|MICAL1_uc010kdr.3_Silent_p.A605A	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	691	LIM zinc-binding.				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)		CCCCAGCACCGGCCTGCGTGG	0.642000														68			5		0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31510727	31510727	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31510727G>A	uc002eci.2	-	5	507	c.495_splice	c.e5-1	p.R165_splice	C16orf58_uc010vfq.1_Splice_Site_p.R23_splice	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	165						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TCCGCAAAAAGCCTGGGGAGG	0.547000														57			7		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50951489	50951489	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50951489G>A	uc002psf.2	+	12	1365	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	438	Ig-like C2-type 4.				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)		CAGAGAAACAGCTGGAGGTCC	0.557000														20			5		0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6415775	6415775	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:6415775C>T	uc001mcw.3	+	5	2019	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	SMPD1_uc021qcz.1_3'UTR|SMPD1_uc001mcv.2_Non-coding_Transcript|SMPD1_uc009yew.3_Silent_p.L611L|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	610					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTGCCGCCACCTGATGCCAGA	0.647000														58			9		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24505192	24505192	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:24505192C>T	uc003nef.3	+	3	733	c.705C>T	c.(703-705)ttC>ttT	p.F235F	ALDH5A1_uc003neg.3_Silent_p.F235F	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	235					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	ACACGCCCTTCTCCGCCCTGG	0.567000														92			5		0	0	1	0	0
RELL1	768211	broad.mit.edu	37	4	37651040	37651040	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:37651040T>A	uc003gsz.2	-	1	261	c.171A>T	c.(169-171)gaA>gaT	p.E57D	RELL1_uc010ifc.3_Missense_Mutation_p.E57D	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	57						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						ATGCAATATATTCTGGGTGTC	0.498000														119			15		0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88909200	88909200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:88909200G>A	uc010cid.3	-	2	417	c.176C>T	c.(175-177)tCc>tTc	p.S59F	GALNS_uc002fly.4_Missense_Mutation_p.S53F|GALNS_uc002flz.4_Intron			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	53						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGTCTCTCTGGAGGGCTCTCC	0.602000														26			5		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262956	248262956	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248262956C>T	uc001ids.3	+	2	616	c.279C>T	c.(277-279)ttC>ttT	p.F93F	OR2L13_uc021pmc.1_Silent_p.F93F	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			GCATCTCCTTCCTGGGATGTG	0.542000														120			7		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170068592	170068592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170068592G>A	uc002ues.3	-	36	6379	c.6166C>T	c.(6166-6168)Cgg>Tgg	p.R2056W		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2056	EGF-like 8.				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)	GAGCAGGACCGATTATCAGGA	0.448000														29			5		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35801017	35801017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35801017G>A	uc002nyy.2	+	7	1670	c.1472G>A	c.(1471-1473)aGg>aAg	p.R491K	MAG_uc002nyx.2_Missense_Mutation_p.R491K|MAG_uc010eds.2_Missense_Mutation_p.R466K|MAG_uc002nyz.2_Missense_Mutation_p.R491K	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	491	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGCACCGCGAGGAACCTCTAT	0.697000														62			6		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141920	54141920	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:54141920G>A	uc003xrh.1	-	2	1455	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	OPRK1_uc022aup.1_Silent_p.V240V|OPRK1_uc003xri.1_Silent_p.V360V|OPRK1_uc010lyc.1_Silent_p.V271V	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	360					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)	CTGTATTTCGGACTCTGCTAG	0.483000														29			6		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107241	123107241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123107241C>T	uc003ieh.3	+	4	454	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	137					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						CTTTGAATTTCATGTCTATAA	0.353000														15			7		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068517	5068517	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5068517C>T	uc010qyv.2	+	0	762	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I254I(2)|p.P255T(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTTCTATATCCCTTCAGTCT	0.453000														15			3		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683577	100683577	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100683577C>T	uc003uxp.1	+	2	8933	c.8880C>T	c.(8878-8880)acC>acT	p.T2960T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2960	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2960N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTCACCACTTCTGCTG	0.488000														146			32		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117484384	117484384	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117484384C>T	uc001egv.1	+	1	234	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	33	Ig-like C2-type 1.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACCCTGGTTCGAGTGGTGGG	0.537000														110			7		0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174820667	174820667	+	Silent	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:174820667A>G	uc002uig.3	-	3	1104	c.573T>C	c.(571-573)tcT>tcC	p.S191S	SP3_uc002uie.3_Silent_p.S123S|SP3_uc002uif.3_Silent_p.S138S|SP3_uc010zel.2_Silent_p.S188S	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	191	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CATTATCTGAAGAGCCTGTGA	0.423000														137			29		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142004878	142004878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:142004878C>T	uc002tvj.1	-	4	1481	c.509G>A	c.(508-510)aGa>aAa	p.R170K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	170	EGF-like 2; calcium-binding (Potential).				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)		ATGTGTGTTTCTGCAGGTCTG	0.403000										TSP Lung(27;0.18)				9			4		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161157928	161157928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161157928C>T	uc003qtm.4	+	13	1803	c.1691C>T	c.(1690-1692)tCa>tTa	p.S564L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	564					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)	GCGGCCCCTTCATTTGATTGT	0.507000														26			4		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205814602	205814603	+	Missense_Mutation	DNP	CC	TT	TT	rs138877289		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205814602_205814603CC>TT	uc001hdj.3	-	2	415_416	c.339_340GG>AA	c.(337-342)tcggac>tcAAac	p.D114N	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	114						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AAGCTGGGGTCCGAGCCTTGGA	0.550000														83			7		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90794019	90794019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90794019C>T	uc002bpd.1	+	1	445	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	53					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAATGGGGTTCCCTCACCCAT	0.473000														105			7		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613675	18613675	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:18613675C>T	uc002znw.1	+	3	1491	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	TUBA8_uc002znv.2_Silent_p.A374A|TUBA8_uc021wkt.1_Silent_p.A308A	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	374					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGCAGCGGGCCGTCTGCATGC	0.642000														63			6		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851302	51851302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51851302C>T	uc001rys.1	+	5	920	c.742C>T	c.(742-744)Cct>Tct	p.P248S	SLC4A8_uc010sni.2_Missense_Mutation_p.P195S|SLC4A8_uc001rym.3_Missense_Mutation_p.P195S|SLC4A8_uc001ryn.3_Missense_Mutation_p.P195S|SLC4A8_uc001ryo.2_Missense_Mutation_p.P195S|SLC4A8_uc001ryp.1_Missense_Mutation_p.P195S|SLC4A8_uc010snj.2_Missense_Mutation_p.P275S|SLC4A8_uc001ryq.4_Missense_Mutation_p.P248S|SLC4A8_uc001ryr.3_Missense_Mutation_p.P248S|SLC4A8_uc010snk.2_Missense_Mutation_p.P195S	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	248					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCAGTCTGATCCTCATTTGAT	0.393000														36			4		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628097	33628097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:33628097C>T	uc001uus.3	+	1	1021	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	KL_uc001uur.1_Missense_Mutation_p.P31L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	338	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.Y337S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGTGACTATCCCGAGAGCATG	0.393000														56			16		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032080	46032080	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46032080C>T	uc002zfo.1	+	0	85	c.63C>T	c.(61-63)tcC>tcT	p.S21S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	21						keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGTCTGCTCCAGTGACGTGG	0.622000														90			28		0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14990383	14990383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:14990383G>A	uc001mlv.1	-	3	439	c.388C>T	c.(388-390)Cat>Tat	p.H130Y	CALCA_uc001mlt.2_Intron|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.H130Y	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	TGAGGGCGATGGTCTCTCTCC	0.488000														104			8		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030176	95030176	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95030176G>A	uc010avd.3	+	1	742	c.468G>A	c.(466-468)agG>agA	p.R156R	SERPINA4_uc001ydk.3_Silent_p.R119R|SERPINA4_uc001ydl.3_Silent_p.R119R	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	119					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATGTCCATAGGGGCTTCCAGC	0.617000														68			6		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109069	58109069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58109069G>A	uc003djj.2	+	20	3541	c.3376G>A	c.(3376-3378)Gac>Aac	p.D1126N	FLNB_uc010hne.2_Missense_Mutation_p.D1126N|FLNB_uc003djk.2_Missense_Mutation_p.D1126N|FLNB_uc010hnf.2_Missense_Mutation_p.D1126N|FLNB_uc003djl.2_Missense_Mutation_p.D957N|FLNB_uc003djm.2_Missense_Mutation_p.D957N	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1126					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTTCAAAGCTGACATTGAAAT	0.557000														124			13		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130910937	130910937	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:130910937G>A	uc002tqq.2	-	17	3246	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	SMPD4_uc002tqo.2_Silent_p.I231I|SMPD4_uc002tqp.2_Silent_p.I438I|SMPD4_uc010yzy.2_Silent_p.I448I|SMPD4_uc010yzz.2_Silent_p.I363I|SMPD4_uc002tqs.2_Silent_p.I567I|SMPD4_uc002tqr.2_Silent_p.I670I|SMPD4_uc010zaa.2_Silent_p.I557I|SMPD4_uc010zab.2_Silent_p.I597I|SMPD4_uc002tqt.2_Silent_p.I548I|SMPD4_uc010zac.2_Silent_p.I440I|SMPD4_uc010zad.2_Silent_p.I335I	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	660					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCTCACCCACGATGCAGTCGG	0.627000														40			12		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940231	218940231	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218940231G>A	uc010fvl.2	+	8	1534	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	RUFY4_uc002vgw.3_Nonsense_Mutation_p.W166*	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	339							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGCAGAGTGGAGTCACGTC	0.607000														25			4		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824491	74824491	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74824491C>T	uc021rwl.1	+	0	1005	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	VRTN_uc001xpw.4_Silent_p.F335F	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	335					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TTCAGCAGTTCCTCCAGCGGT	0.662000														67			11		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226570804	226570804	+	Silent	SNP	G	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226570804G>T	uc001hqd.4	-	7	1263	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	364					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGCCGCCACGGAGGCGCTGG	0.512000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						248			9		6.40141e-05	6.4713e-05	1	1	0
NKAPL	222698	broad.mit.edu	37	6	28227232	28227232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:28227232C>T	uc003nkt.3	+	0	135	c.83C>T	c.(82-84)cCa>cTa	p.P28L	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	28										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGGAGCCCACCATCCCCGCAG	0.662000														50			5		0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64363779	64363779	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:64363779C>T	uc003tto.3	+	0	160	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ZNF273_uc003ttl.3_Intron|ZNF273_uc003ttm.1_Non-coding_Transcript|ZNF273_uc003ttn.3_5'UTR|ZNF273_uc003ttp.1_Intron	NM_021148	NP_066971	Q14593	ZN273_HUMAN	Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CGCCAGGACTCCCTGGAAGCC	0.597000														80			4		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754727	49754727	+	Silent	SNP	T	C	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:49754727T>C	uc003ozu.3	-	0	327	c.174A>G	c.(172-174)gtA>gtG	p.V58V		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	58					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCATAAGAACTACTGCCTTGG	0.478000														29			5		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487731	108487731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:108487731G>A	uc010ywk.2	+	19	3353	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	RGPD4_uc002tdu.3_Missense_Mutation_p.E278K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1091	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTCAAAAACGAGGTCAATGG	0.408000														126			10		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47226197	47226197	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47226197G>A	uc002pfm.3	-	13	1830	c.1797C>T	c.(1795-1797)gtC>gtT	p.V599V	STRN4_uc002pfl.3_Silent_p.V592V|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	592						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGAGGTGGGGACCCCGTGCT	0.667000														56			5		0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66040613	66040613	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66040613C>T	uc002jgk.3	+	8	1473	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	KPNA2_uc002jgl.3_Silent_p.I447I	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	447					DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCAAATATCTTTCAGGTAA	0.378000														336			19		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125025752	125025752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:125025752G>A	uc003yqw.3	+	14	2109	c.1903G>A	c.(1903-1905)Gac>Aac	p.D635N	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	635						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)			AGTGCTCAGTGACTTCATCAG	0.463000														8			4		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55984888	55984888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55984888C>T	uc003has.3	-	2	543	c.241G>A	c.(241-243)Gat>Aat	p.D81N	KDR_uc003hat.1_Missense_Mutation_p.D81N|KDR_uc011bzx.2_Missense_Mutation_p.D81N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	81	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAGAGGCCATCGCTGCACTCA	0.498000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				34			5		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43446795	43446795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:43446795G>A	uc002lbm.3	-	37	6689	c.6589C>T	c.(6589-6591)Ctt>Ttt	p.L2197F	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.L751F|EPG5_uc002lbn.2_Missense_Mutation_p.L1072F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2197					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGAATAGAAAGGCCCGCAGAC	0.438000														98			8		0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36882459	36882459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36882459C>T	uc003omw.3	+	4	869	c.706C>T	c.(706-708)Cct>Tct	p.P236S	C6orf89_uc003omv.3_Missense_Mutation_p.P123S|C6orf89_uc003omx.3_Missense_Mutation_p.P229S|C6orf89_uc011dtr.2_Missense_Mutation_p.P123S	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	229						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTTCCCATTTCCTTATCCATG	0.557000														115			9		0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156084789	156084789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156084789C>T	uc001fni.2	+	0	329	c.80C>T	c.(79-81)aCc>aTc	p.T27I	LMNA_uc001fnf.1_Missense_Mutation_p.T27I|LMNA_uc001fng.2_Missense_Mutation_p.T27I|LMNA_uc001fnh.2_Missense_Mutation_p.T27I|LMNA_uc009wro.1_Missense_Mutation_p.T27I	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	27	Head.|Interaction with MLIP.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ACCCGCATCACCCGGCTGCAG	0.701000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					213			10		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68852754	68852754	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68852754G>A	uc001oos.2	+	20	1954	c.1838_splice	c.e20+1	p.S613_splice	TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Intron	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	613					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)			GGAAACAGCAGGTGAGGTGGG	0.612000														73			7		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623452	137623452	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:137623452C>T	uc004cfe.3	+	7	1657	c.1275C>T	c.(1273-1275)agC>agT	p.S425S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	425	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		accccACCAGCTCCCCGTCGG	0.632000														107			11		0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90141871	90141871	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:90141871G>A	uc010cje.3	-	1	101	c.81C>T	c.(79-81)gcC>gcT	p.A27A	PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	27	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTCTTTGAAGGCATCTTTGA	0.433000														180			25		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24674032	24674032	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24674032C>T	uc021oiw.1	+	13	1848	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L	GRHL3_uc001bix.3_Silent_p.L540L|GRHL3_uc021oix.1_Silent_p.L494L|GRHL3_uc001biy.3_Silent_p.L545L|GRHL3_uc001biz.3_Silent_p.L447L	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	540					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTGAAGGGGCTGAGGAATGC	0.597000														116			7		0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89760502	89760502	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89760502C>T	uc002bnl.3	-	4	575	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	65					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TCTCCTGCAGCTCTCGCACTG	0.637000														83			9		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070922	53070922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53070922C>T	uc001sau.1	-	5	1234	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	KRT1_uc001sav.1_Missense_Mutation_p.R392K	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	392	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.R392I(2)|p.R392*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTTTGAATTTCTCACACTATC	0.423000														63			11		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222596	27222596	+	Silent	SNP	G	A	A	rs141944192		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27222596G>A	uc003nja.3	+	9	1290	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.T168T|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	425					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.T425T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGCTCAGACGAACTCCTACT	0.567000														77			9		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38568006	38568006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38568006G>A	uc002huq.3	-	7	1013	c.854C>T	c.(853-855)tCc>tTc	p.S285F	TOP2A_uc002hur.1_5'Flank	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	285					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACTTTCAAGGAGTTACCAGT	0.358000														29			10		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57062238	57062239	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57062238_57062239CC>TT	uc021tiu.1	+	6	2311_2312	c.2184_2185CC>TT	c.(2182-2187)gcccga>gcTTga	p.R729*	NLRC5_uc021tit.1_Nonsense_Mutation_p.R729*|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Nonsense_Mutation_p.R534*|NLRC5_uc021tiw.1_Nonsense_Mutation_p.R534*|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	729					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAATCACTGCCCGAGGCATCAG	0.550000														76			10		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690903	38690903	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38690903C>T	uc021yzh.1	+	1	427	c.318C>T	c.(316-318)tcC>tcT	p.S106S	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCGTCTTCCCGGAGGTCCT	0.493000														33			4		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9074744	9074744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9074744G>A	uc001mhi.2	-	11	1424	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	450						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACACTTGTGGGCAGGAGCCC	0.522000														40			4		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509945	41509945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41509945G>A	uc002opr.1	+	1	218	c.211G>A	c.(211-213)Gga>Aga	p.G71R	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.G31R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	71					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGTACACCTGGGACCGAGGCC	0.557000														56			4		0	0	1	0	0
ARL9	132946	broad.mit.edu	37	4	57377506	57377506	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:57377506C>T	uc003hby.1	+	1	457	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	67							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					AGATGGAGTTCCTGGAGAGTA	0.443000														63			4		0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36057669	36057669	+	Silent	SNP	C	A	A	rs149080200		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36057669C>A	uc001mwk.1	+	1	100	c.63C>A	c.(61-63)ccC>ccA	p.P21P	LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	21						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				AGCTGCTCCCCGGGAACAACT	0.592000														48			13		0.000151284	0.000152869	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56089462	56089462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:56089462G>A	uc010qhy.1	-	7	1009	c.614C>T	c.(613-615)tCc>tTc	p.S205F	PCDH15_uc010qhq.2_Missense_Mutation_p.S205F|PCDH15_uc010qhr.2_Missense_Mutation_p.S200F|PCDH15_uc021pqv.1_Missense_Mutation_p.S200F|PCDH15_uc021pqw.1_Missense_Mutation_p.S205F|PCDH15_uc010qht.2_Missense_Mutation_p.S200F|PCDH15_uc021pqx.1_Missense_Mutation_p.S200F|PCDH15_uc001jjv.1_Missense_Mutation_p.S178F|PCDH15_uc021pqy.1_Missense_Mutation_p.S200F|PCDH15_uc021pqz.1_Missense_Mutation_p.S178F|PCDH15_uc010qhv.1_Missense_Mutation_p.S200F|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Missense_Mutation_p.S200F|PCDH15_uc010qhz.1_Missense_Mutation_p.S200F|PCDH15_uc010qia.1_Missense_Mutation_p.S178F|PCDH15_uc001jju.1_Missense_Mutation_p.S200F|PCDH15_uc010qib.1_Missense_Mutation_p.S178F|PCDH15_uc001jjw.3_Missense_Mutation_p.S200F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	200	Cadherin 2.				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)				GGTGTCATTGGATGTCTGCAA	0.323000										HNSCC(58;0.16)				9			3		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071631	240071631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240071631G>A	uc021plc.1	+	0	880	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	CHRM3_uc001hyp.3_Missense_Mutation_p.E294K	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	294					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CAGCAGTTACGAACTTCAACA	0.547000														27			7		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107683	168107683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168107683G>A	uc002udx.3	+	8	9870	c.9781G>A	c.(9781-9783)Gaa>Aaa	p.E3261K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E3086K|XIRP2_uc010fpq.3_Missense_Mutation_p.E3039K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3086					actin cytoskeleton organization	cell junction	actin binding	p.E3260G(1)|p.E3260E(1)|p.E3260*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGCTCAAGAGGAAATCAGGAA	0.423000														8			3		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017662	36017662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36017662C>T	uc002oad.2	-	0	1592	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SBSN_uc002oae.2_Missense_Mutation_p.E165K|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	165						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCCACTTCCTTTCCAGCC	0.597000														86			7		0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111874685	111874685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:111874685G>A	uc004epp.3	-	2	768	c.695C>T	c.(694-696)tCt>tTt	p.S232F	LHFPL1_uc004epq.3_Missense_Mutation_p.S209F|LHFPL1_uc010nqa.3_Non-coding_Transcript|LHFPL1_uc010nqb.3_Missense_Mutation_p.S176F	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	209						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CATAGCATAAGAATTGGTATT	0.493000														27			5		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193505	28193505	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:28193505G>A	uc003adj.3	-	0	3982	c.3027C>T	c.(3025-3027)tcC>tcT	p.S1009S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1009							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCTTCCCCCAGGATGGCGACG	0.697000			T	ETV6	"""AML, meningioma"""									46			5		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014372	168014372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168014372C>T	uc001gew.3	+	13	2287	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	DCAF6_uc001gex.3_Missense_Mutation_p.S722F|DCAF6_uc010plk.2_Missense_Mutation_p.S691F|DCAF6_uc001gev.3_Missense_Mutation_p.S665F|DCAF6_uc001gey.3_Missense_Mutation_p.S518F|DCAF6_uc001gez.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	645					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAAGAAACATCCACCAGGGAC	0.502000														16			5		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48414338	48414338	+	Silent	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48414338G>A	uc003csr.3	+	1	267	c.81G>A	c.(79-81)caG>caA	p.Q27Q	FBXW12_uc010hjv.3_Intron|FBXW12_uc003css.3_Silent_p.Q27Q|FBXW12_uc010hjw.3_Intron	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	27	F-box.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGTTTCCCAGGTGAACAAGG	0.542000														75			14		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807986	18807986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:18807986G>A	uc001bax.3	+	0	563	c.511G>A	c.(511-513)Gga>Aga	p.G171R	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	171						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCAGCTGGACTCATTGC	0.617000														52			5		0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120182982	120182982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:120182982C>T	uc003ics.4	+	10	2001	c.935C>T	c.(934-936)tCc>tTc	p.S312F	USP53_uc003icr.4_Missense_Mutation_p.S312F|USP53_uc003icu.4_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	312					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACCAAAAGTTCCAAATGGGTA	0.313000														33			4		0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266579	113266579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:113266579C>T	uc001ecu.3	+	3	347	c.278C>T	c.(277-279)gCt>gTt	p.A93V	FAM19A3_uc001ecv.3_Intron|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Intron	NM_001004440	NP_001004440	Q7Z5A8	F19A3_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA.	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		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)		CTGCTCTTGGCTGCCCACTGT	0.607000														61			5		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465858	110465858	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110465858C>T	uc001dyu.2	+	5	1028	c.615C>T	c.(613-615)gtC>gtT	p.V205V	CSF1_uc001dyt.2_Silent_p.V205V|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Silent_p.V205V|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	205					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGCCTCTGTCTCCCCTCATC	0.607000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			14		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109971273	109971273	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109971273C>T	uc001top.3	+	26	3528	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	UBE3B_uc001toq.3_Silent_p.F975F|UBE3B_uc001tos.3_Silent_p.F402F|UBE3B_uc001tot.3_Silent_p.F93F|UBE3B_uc010sxp.1_Silent_p.F93F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	975	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTTGCAGTTCGTGACCAGCT	0.617000														112			8		0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139847361	139847361	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139847361C>T	uc004ckc.3	+	1	140	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LCN12_uc022bpx.1_Silent_p.F44F|LCN12_uc004ckb.3_Silent_p.F44F			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	44					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGAATGGTTCGTCCTGGGCC	0.672000														172			21		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47612360	47612360	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47612360C>T	uc002xtx.4	+	22	3314	c.3162C>T	c.(3160-3162)gcC>gcT	p.A1054A	ARFGEF2_uc010zyf.2_Silent_p.A347A	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1054					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)			GACAGATGGCCAGCTTCCAAG	0.438000														119			11		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122206628	122206628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:122206628G>A	uc002tnc.3	-	16	1982	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	CLASP1_uc002tna.3_5'UTR|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.S531F|CLASP1_uc010yza.2_Missense_Mutation_p.S531F|CLASP1_uc021vnl.1_Missense_Mutation_p.S531F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.S531F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	531	Ser-rich.				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)					TTTCTGGTAGGAGGACTCCAA	0.493000														23			4		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026072	32026072	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32026072C>G	uc003nzl.2	-	21	7790	c.7588G>C	c.(7588-7590)Gtg>Ctg	p.V2530L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2590	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GATCCTGTCACTGTCAGCTCC	0.662000														336			26		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114358414	114358414	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:114358414A>G	uc009zwi.2	-	19	2529	c.2385_splice	c.e19+1	p.Q795_splice	RBM19_uc001tvn.4_Splice_Site_p.Q795_splice|RBM19_uc001tvm.3_Splice_Site_p.Q795_splice	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	795	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					tcTTCACTTTACCTGGAGCTG	0.522000														269			20		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676576	11676576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11676576C>T	uc021zzo.1	-	1	455	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	THSD7A_uc021zzn.1_Missense_Mutation_p.R68Q	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	68	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCCATACATCGGCCCCATGG	0.453000										HNSCC(18;0.044)				48			8		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74709642	74709642	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74709642C>T	uc002fdb.2	-	7	1500	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	353	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTGTGTTTTCCTCAACTCAA	0.423000														51			4		0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582732	90582732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90582732G>A	uc001kfj.4	-	5	910	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	181								p.S181F(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCAATCTGGGAAAATTTTAA	0.393000														84			9		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102030466	102030466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:102030466G>A	uc001tii.3	+	7	690	c.550G>A	c.(550-552)Gat>Aat	p.D184N	MYBPC1_uc001tif.2_Missense_Mutation_p.D197N|MYBPC1_uc001tig.3_Missense_Mutation_p.D209N|MYBPC1_uc010svr.2_Missense_Mutation_p.D184N|MYBPC1_uc010svs.2_Missense_Mutation_p.D184N|MYBPC1_uc001tij.3_Missense_Mutation_p.D184N|MYBPC1_uc010svt.2_Missense_Mutation_p.D172N|MYBPC1_uc010svu.2_Intron|MYBPC1_uc001tik.3_Missense_Mutation_p.D158N|MYBPC1_uc001tih.3_Missense_Mutation_p.D209N|MYBPC1_uc010svq.2_Missense_Mutation_p.D171N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	184					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGTCAAGAGGATGCAGGAGA	0.438000														20			3		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886836	227886836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227886836G>A	uc021vxr.1	-	42	4245	c.4144C>T	c.(4144-4146)Cct>Tct	p.P1382S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1379S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1382	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCGCCCCAGGAAGGCCTGGG	0.567000														173			35		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910093	35910093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35910093C>T	uc003jjt.1	-	3	495	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CAPSL_uc003jju.1_Missense_Mutation_p.E134K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	134	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CGAAGGTCTTCGATTGTTATA	0.383000														56			10		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45448544	45448544	+	RNA	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45448544G>A	uc002pah.3	+	2		c.406G>A			APOC4_uc021uvn.1_5'Flank	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TTGTCTGTGGGGACAAGGACC	0.567000														292			59		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059777	40059777	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40059777C>T	uc003ayc.3	+	18	3528	c.3528C>T	c.(3526-3528)gtC>gtT	p.V1176V	CACNA1I_uc003ayd.3_Silent_p.V1141V|CACNA1I_uc003aye.3_Silent_p.V1091V|CACNA1I_uc003ayf.3_Silent_p.V1056V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1176					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACTACGTCGTCCTGGCCTTCA	0.632000														143			12		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804610	27804610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27804610G>A	uc002rkz.4	+	0	5222	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1724	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCGCTCGGAGGAGCCATCGC	0.562000														176			14		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659832	179659832	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179659832G>A	uc010pnp.2	+	18	3379	c.2861_splice	c.e18-1	p.V954_splice	TDRD5_uc021pfm.1_Splice_Site_p.V900_splice|TDRD5_uc001gnf.2_Splice_Site_p.V900_splice|TDRD5_uc021pfn.1_Splice_Site_p.V954_splice|TDRD5_uc001gnh.2_Splice_Site_p.V455_splice	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	900					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTTTTCCAGTGGAAAGCTCAC	0.403000														34			5		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122742083	122742083	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122742083C>T	uc001pyj.3	+	9	1158	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	CRTAM_uc001pyk.3_Silent_p.I187I	NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	386					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAAAGCACATCCAAGTACCAG	0.443000														33			4		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259970	215259970	+	Silent	SNP	C	T	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:215259970C>T	uc001hkq.3	+	1	475	c.306C>T	c.(304-306)ttC>ttT	p.F102F	KCNK2_uc001hko.3_Silent_p.F98F|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.F87F	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	102							outward rectifier potassium channel activity	p.F87L(1)|p.F102L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	AGCAAACATTCATATCCCAAC	0.463000														77			8		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43647265	43647265	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43647265delC	uc021omk.1	+	2	364	c.218delC	c.(217-219)gctfs	p.A73fs	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Frame_Shift_Del_p.A62fs|WDR65_uc001ciq.2_Frame_Shift_Del_p.A73fs|WDR65_uc001cip.2_Frame_Shift_Del_p.A73fs	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	73										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGTACCTCGCTATCTCTGAG	0.458													---	51	---	---	15	---					
MLH1	4292	broad.mit.edu	37	3	37081681	37081681	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37081681delC	uc003cgl.3	+	13	1761	c.1563delC	c.(1561-1563)ctcfs	p.L521fs	MLH1_uc011aye.2_Frame_Shift_Del_p.L280fs|MLH1_uc011ayb.2_Frame_Shift_Del_p.L280fs|MLH1_uc010hge.3_Frame_Shift_Del_p.L521fs|MLH1_uc011ayc.2_Frame_Shift_Del_p.L423fs|MLH1_uc011ayd.2_Frame_Shift_Del_p.L280fs|MLH1_uc003cgo.3_Frame_Shift_Del_p.L280fs|MLH1_uc003cgn.4_Frame_Shift_Del_p.L280fs|MLH1_uc010hgj.1_Frame_Shift_Del_p.L163fs|MLH1_uc010hgk.3_Frame_Shift_Del_p.L163fs|MLH1_uc010hgl.1_Frame_Shift_Del_p.L96fs|MLH1_uc010hgn.3_Frame_Shift_Del_p.L163fs|MLH1_uc010hgm.3_Intron|MLH1_uc010hgo.3_Intron|MLH1_uc010hgp.3_5'Flank|MLH1_uc010hgq.3_5'Flank	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	521	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTGCAGTTCTCCGGGAGATGT	0.458		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				---	37	---	---	8	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	-	-	rs113070757	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:2039777_2039779delCAG	uc003zhc.3	+	3	766_768	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_uc003zhd.3_In_Frame_Del_p.Q238del|SMARCA2_uc010mha.3_In_Frame_Del_p.Q229del	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													---	8	---	---	5	---					
STAM	8027	broad.mit.edu	37	10	17737055	17737058	+	Frame_Shift_Del	DEL	GTTG	-	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:17737055_17737058delGTTG	uc001ipj.2	+	6	758_761	c.543_546delGTTG	c.(541-546)gagttgfs	p.E181fs	STAM_uc010qcf.2_Frame_Shift_Del_p.E70fs|STAM_uc009xjw.2_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	181					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TAGCCATTGAGTTGTCTCTCAAGG	0.382													---	51	---	---	10	---					
ERAL1	26284	broad.mit.edu	37	17	27185807	27185807	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27185807delT	uc002hcy.1	+	6	935	c.925delT	c.(925-927)tcafs	p.S309fs	ERAL1_uc002hcz.1_Intron|ERAL1_uc002hda.1_Frame_Shift_Del_p.S116fs|MIR451B_uc021ttw.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	309					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)			CTTCATGTTGTCAGCCCTAAG	0.507													---	218	---	---	32	---					
SGSH	6448	broad.mit.edu	37	17	78188470	78188473	+	Frame_Shift_Del	DEL	CCGC	-	-	rs104894638		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78188470_78188473delCCGC	uc002jxz.4	-	3	534_537	c.447_450delGCGG	c.(445-450)gggcggfs	p.G149fs	SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Frame_Shift_Del_p.G149fs|SGSH_uc010wue.1_Frame_Shift_Del_p.G161fs	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	149					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TAGTGATGTTCCGCCCCACCTGGA	0.627													---	44	---	---	8	---					
ZNF419	79744	broad.mit.edu	37	19	58004884	58004884	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58004884delG	uc010ety.1	+	4	1202	c.962delG	c.(961-963)tgtfs	p.C321fs	ZNF419_uc002qov.2_Frame_Shift_Del_p.C320fs|ZNF419_uc010etz.1_Frame_Shift_Del_p.C308fs|ZNF419_uc002qow.2_Frame_Shift_Del_p.C288fs|ZNF419_uc010eua.1_Frame_Shift_Del_p.C307fs|ZNF419_uc010eub.1_Frame_Shift_Del_p.C275fs|ZNF419_uc010euc.1_Frame_Shift_Del_p.C274fs	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGCAGTGAATGTGGAAAATTG	0.393													---	51	---	---	10	---					
